Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Akatsu H, Yamagata H, Wake A et al. The first autopsy case report of familial Alzheime... Alzheimer's & Dementia 4 Supp 2: T578, 2008

Mutations

PSEN1: (Gly266Ser)

ID: 556

Alberici A, Bonato C, Borroni B et al. Dementia, delusions and seizures: storage disease... European Journal of Neurology 14: 1057-1059, 2007 (PubMed ID: 17718701)

Mutations

PSEN1: (Pro117Leu)

ID: 462

Aldudo J, Bullido MJ, Valdivieso F. DGGE method for the mutational analysis of the cod... Human Mutation 14: 433-439, 1999 (PubMed ID: 10533070)

Mutations

PSEN1: (Met233Leu) (Leu282Arg) (Ala409Thr)

ID: 66

Aldudo J, Bullido MJ, Frank A et al. Missense mutation E318G of the presenilin-1 gene a... Annals of Neurology 44: 985-986, 1998 (PubMed ID: 9851450)

Mutations

PSEN1: (Glu318Gly)

ID: 161

Aldudo J, Bullido MJ, Arbizu T et al. Identification of a novel mutation (Leu282Arg) of... Neuroscience Letters 240: 174-176, 1998 (PubMed ID: 9502232)

Mutations

PSEN1: (Leu282Arg)

ID: 32

Almeida MR, Baldeiras I, Ribeiro MH et al. Progranulin peripheral levels as a screening tool... Neurodegenerative Diseases 13: 214-223, 2014 (PubMed ID: 24022032)

Mutations

GRN: (Pro34Ser) (Gln257fs) (Ser301fs) (Trp304fs) (Ala394fs)

ID: 730

AlzForum Mutation Database. AlzForum Mutation Database. http://www.alzforum.org/mutation/psen2-p334a : , 2016

Mutations

PSEN2: (Pro334Ala)

ID: 738

AlzForum Mutation Database. AlzForum Mutation Database. http://www.alzforum.org/mutation/psen2-a377v : , 2016

Mutations

PSEN2: (Ala377Val)

ID: 739

Amtul Z, Lewis PA, Piper S et al. A presenilin 1 mutation associated with familial f... Neurobiology of Disease 9: 269-273, 2002 (PubMed ID: 11895378)

Mutations

PSEN1: (InsR352)

ID: 141

Ancolio K, Dumanchin C, Barelli H et al. Unusual phenotypic alteration of beta amyloid prec... Proceedings of the National Academy of Sciences USA 96: 4119-4124, 1999 (PubMed ID: 10097173)

Mutations

APP: (Val715Met; French APP)

ID: 62

Andreoli V, Trecroci F, La Russa A et al. Gene symbol: PSEN2. Disease: Alzheimer disease. Human Genetics 124: 304, 2008 (PubMed ID: 18846634)

Mutations

PSEN2: (Met174Val)

ID: 569

Anfossi M, Bernardi L, Gallo M et al. Tau V363I mutation: pathogenic or not?. Alzheimer's & Dementia 4 Supp 2: T603, 2008

Mutations

MAPT: (Val363Ile)

ID: 588

Anheim M, Hannequin D, Boulay C et al. Ataxic variant of Alzheimer's disease caused by Pr... Journal of Neurology, Neurosurgery and Psychiatry 78: 1414-1415, 2007 (PubMed ID: 18024701)

Mutations

PSEN1: (Pro117Ala)

ID: 522

Antonell A, Balasa M, Oliva R et al. A novel PSEN1 gene mutation (L235R) associated wit... Neuroscience Letters 496: 40-42, 2011 (PubMed ID: 21501661)

Mutations

PSEN1: (Leu235Arg)

ID: 722

Aoki M, Abe K, Oda N et al. A presenilin-1 mutation in a Japanese family with... Neurology 48: 1118-1120, 1997 (PubMed ID: 9109915)

Mutations

PSEN1: (Ala285Val)

ID: 83

Arai N, Kishino A, Takahashi Y et al. Familial cases presenting very early onset autosom... Neurogenetics 9: 65-67, 2008 (PubMed ID: 17968601)

Mutations

PSEN1: (Ile143Thr)

ID: 537

Arango D, Cruts M, Torres O et al. Systematic genetic study of Alzheimer disease in L... American Journal of Medical Genetics 103: 138-143, 2001 (PubMed ID: 11568920)

Mutations

APP: (Gly708)
PSEN1: (Val94Met) (Ile143Thr) (Glu280Ala)

ID: 119

Arima K, Kowalska A, Hasegawa M et al. Two brothers with frontotemporal dementia and park... Neurology 54: 1787-1795, 2000 (PubMed ID: 10802785)

Mutations

MAPT: (Asn279Lys)

ID: 207

Armstrong J, Boada M, Rey MJ et al. Familial Alzheimer disease associated with A713T m... Neuroscience Letters 370: 241-243, 2004 (PubMed ID: 15488330)

Mutations

APP: (Ala713Thr)

ID: 343

Assini A, Terreni L, Borghi R et al. Pure spastic paraparesis associated with a novel p... neurology 60: 150-151, 2003 (PubMed ID: 12525746)

Mutations

PSEN1: (Arg278Lys)

ID: 155

Aswathy PM, Jairani PS, Raghavan SK et al. Progranulin mutation analysis: Identification of o... Neurobiology of Aging 39: 218.e1-3, 2016 (PubMed ID: 26724960)

Mutations

GRN: (Gln503X)

ID: 747

Ataka S, Tomiyama T, Takuma H et al. A novel presenilin-1 mutation (Leu85Pro) in early-... Archives of Neurology 61: 1773-1776, 2004 (PubMed ID: 15534188)

Mutations

PSEN1: (Leu85Pro)

ID: 346

Athan ES, Williamson J, Ciappa A et al. A founder mutation in presenilin 1 causing early-o... Journal of the American Medical Association 286: 2256-2263, 2001 (PubMed ID: 11710891)

Mutations

PSEN1: (Gly206Ala)

ID: 122

Axelman K, Basun H, Lannfelt L. Wide range of disease onset in a family with Alzhe... Archives of Neurology 55: 698-702, 1998 (PubMed ID: 9605727)

Mutations

PSEN1: (His163Tyr)

ID: 82

Baker M, Mackenzie IR, Pickering-Brown SM et al. Mutations in progranulin cause tau-negative fronto... Nature 442: 916-919, 2006 (PubMed ID: 16862116)

Mutations

GRN: (Met1) (Cys31fs) (Gln125X) (Gln130fs) (Val279fs) (Thr382fs) (Trp386X) (Arg418X) (Gln468X)

ID: 381

Baker M, Litvan I, Houlden H et al. Association of an extended haplotype in the tau ge... Human Molecular Genetics 8: 711-715, 1999 (PubMed ID: 10072441)

Mutations

MAPT: (Ala227) (Asn255)

ID: 313

Baker M, Kwok JB, Kucera S et al. Localization of frontotemporal dementia with parki... Annals of Neurology 42: 794-798, 1997 (PubMed ID: 9392579)

Mutations

MAPT: (IVS10+16C>T)

ID: 275

Balbín M, Abrahamson M, Gustafson L et al. A novel mutation in the beta-protein coding region... Human Genetics 89: 580-582, 1992 (PubMed ID: 1634237)

Mutations

APP: (Gly708)

ID: 609

Batelli S, Albani D, Prato F et al. Early-onset Alzheimer disease in an Italian family... Alzheimer Disease and Associated Disorders 22: 184-187, 2008 (PubMed ID: 18525293)

Mutations

PSEN1: (Glu318Gly) (Gly394Val)

ID: 544

Bäumer D, Parkinson N, Talbot K. TARDBP in amyotrophic lateral sclerosis: identific... Journal of Neurology, Neurosurgery and Psychiatry 80: 1283-1285, 2009 (PubMed ID: 19864663)

Mutations

TARDBP: (Ala66) (Ala315) (Ala321Gly)

ID: 663

Beck J, Rohrer JD, Campbell T et al. A distinct clinical, neuropsychological and radiol... Brain 131: 706-720, 2008 (PubMed ID: 18234697)

Mutations

GRN: (Cys31fs) (Gln130fs) (Ala199Val) (Ser203fs) (Gln300X) (Ala324Thr) (Arg433Trp) (Leu469Phe) (Glu498fs)

ID: 517

Beck JA, Poulter M, Campbell TA et al. Somatic and germline mosaicism in sporadic early-o... Human Molecular Genetics 13: 1219-1224, 2004 (PubMed ID: 15115757)

Mutations

PSEN1: (Pro436Gln)

ID: 339

Behrens MI, Mukherjee O, Tu PH et al. Neuropathologic heterogeneity in HDDD1: a familial... Alzheimer Disease and Associated Disorders 21: 1-7, 2007 (PubMed ID: 17334266)

Mutations

GRN: (Ala237fs)

ID: 445

Belzil VV, Valdmanis PN, Dion PA et al. Mutations in FUS cause FALS and SALS in French and... Neurology 73: 1176-1179, 2009 (PubMed ID: 19741216)

Mutations

FUS: (Pro21His) (Gly49) (Gly51) (Ser57del) (Asn63Ser) (Gly228_Gly230delGGG) (Gly230_Tys231insG) (Arg521Cys) (Arg521His)

ID: 631

Benajiba L, Le Ber I, Camuzat A et al. TARDBP mutations in motoneuron disease with fronto... Annals of Neurology 65: 470-473, 2009 (PubMed ID: 19350673)

Mutations

TARDBP: (Gly295Ser) (Ala315)

ID: 589

Benussi L, Ghidoni R, Pegoiani E et al. Progranulin Leu271LeufsX10 is one of the most comm... Neurobiology of Disease 33: 379-385, 2008 (PubMed ID: 19101631)

Mutations

GRN: (IVS7-3C>G) (Thr272fs) (His340fs) (Gln341X)

ID: 581

Benussi L, Binetti G, Sina E et al. A novel deletion in progranulin gene is associated... Neurobiology of Aging 29: 427-435, 2008 (PubMed ID: 17157414)

Mutations

GRN: (Thr272fs)

ID: 420

Benussi L, Ghidoni R, Paterlini A et al. Interaction between tau and alpha-synuclein protei... Experimental Cell Research 308: 78-84, 2005 (PubMed ID: 15904919)

Mutations

MAPT: (Pro301Leu)

ID: 359

Bermingham N, Cowie TF, Paine M et al. Frontotemporal dementia and Parkinsonism linked to... Neuropathology and Applied Neurobiology 34: 366-370, 2008 (PubMed ID: 18067537)

Mutations

MAPT: (Gly389Arg)

ID: 512

Bernardi L, Tomaino C, Anfossi M et al. Novel PSEN1 and PGRN mutations in early-onset fami... Neurobiology of Aging 30: 1825-1833, 2009 (PubMed ID: 18314228)

Mutations

GRN: (Cys139Arg)
PSEN1: (Val412Ile)

ID: 507

Bernardi L, Geracitano S, Colao R et al. AbetaPP A713T mutation in late onset Alzheimer's d... Journal of Alzheimer's Disease 17: 383-389, 2009 (PubMed ID: 19363265)

Mutations

APP: (Ala713Thr)

ID: 643

Bernardi L, Tomaino C, Anfossi M et al. Late onset familial Alzheimer's disease: novel pre... Journal of Neurology 255: 604-606, 2008 (PubMed ID: 18350357)

Mutations

PSEN1: (Glu318Gly)
PSEN2: (Val139Met)

ID: 514

Bersano A, Del Bo R, Lamperti C et al. Inclusion body myopathy and frontotemporal dementi... Neurobiology of Aging 30: 752-758, 2009 (PubMed ID: 17889967)

Mutations

VCP: (Arg159Cys)

ID: 488

Bertoli Avella AM, Marcheco Teruel B, Llibre Rodriguez JJ et al. A novel presenilin 1 mutation (L174 M) in a large... Neurogenetics 4: 97-104, 2002 (PubMed ID: 12484344)

Mutations

PSEN1: (Leu174Met)

ID: 304

Bertoli-Avella AM, Teruel BM, LLibre-Rodriguez JJ et al. A novel presenilin1 mutation (L174M) in a large Cu... Neurobiology of Aging 23 (1S): S315, 2002

Mutations

PSEN1: (Leu174Met)

ID: 129

Besançon R, Lorenzi A, Cruts M et al. Missense mutation in exon 11 (Codon 378) of the pr... Human Mutation 11: 481, 1998 (PubMed ID: 10200054)

Mutations

PSEN1: (Gly378Glu)

ID: 34

Beyer K, Lao JI, Fernandández-Novoa L et al. Identification of a novel mutation (V148I) in the... Neurobiology of Aging 19 Supp4: S87, 1998

Mutations

PSEN2: (Val148Ile)

ID: 36

Binetti G, Signorini S, Squitti R et al. Atypical dementia associated with a novel presenil... Annals of Neurology 54: 832-836, 2003 (PubMed ID: 14681895)

Mutations

PSEN2: (Thr122Arg)

ID: 421

Binetti G, Nicosia F, Benussi L et al. Prevalence of TAU mutations in an Italian clinical... Neuroscience Letters 338: 85-87, 2003 (PubMed ID: 12565146)

Mutations

MAPT: (Pro301Leu)

ID: 248

Bird T. . Personal Communication : , 2005

Mutations

MAPT: (Leu315)

ID: 352

Bird TD (Seattle). . Personal Communication : , 2004

Mutations

PSEN1: (Tyr115Asp)

ID: 322

Bird TD, Nochlin D, Poorkaj P et al. A clinical pathological comparison of three famili... Brain 122: 741-756, 1999 (PubMed ID: 10219785)

Mutations

MAPT: (Pro301Leu)

ID: 249

Blair IP, Williams KL, Warraich ST et al. FUS mutations in amyotrophic lateral sclerosis: cl... Journal of Neurology, Neurosurgery and Psychiatry 81: 639-645, 2010 (PubMed ID: 19965854)

Mutations

FUS: (Arg521Cys)

ID: 680

Blauwendraat C, Wilke C, Jansen IE et al. Pilot whole-exome sequencing of a German early-ons... Neurobiology of Aging 37: 208.e11-7, 2016 (PubMed ID: 26522186)

Mutations

APP: (Ile716Met)
CHMP2B: (Ala181Thr)
PSEN1: (Δ9)
PSEN2: (Thr18Met) (Asn141Ile; Volga-German) (Leu238Pro) (Pro348Leu)

ID: 752

Boeve BF, Tremont-Lukats IW, Waclawik AJ et al. Longitudinal characterization of two siblings with... Brain 128: 752-772, 2005 (PubMed ID: 15615814)

Mutations

MAPT: (Ser305Asn)

ID: 334

Boeve BF, Baker M, Dickson DW et al. Frontotemporal dementia and parkinsonism associate... Brain 129: 3103-3114, 2006 (PubMed ID: 17030535)

Mutations

GRN: (IVS2+1G>A)

ID: 415

Borroni B, Pilotto A, Bonvicini C et al. Atypical presentation of a novel Presenilin 1 R377... Neurological Sciences 33: 375-378, 2012 (PubMed ID: 21822699)

Mutations

PSEN1: (Arg377Trp)

ID: 716

Borroni B, Bonvicini C, Alberici A et al. Mutation within TARDBP leads to Frontotemporal Dem... Human Mutation 30: E974-E983, 2009 (PubMed ID: 19655382)

Mutations

TARDBP: (Asn267Ser)

ID: 620

Borroni B, Archetti S, Alberici A et al. Progranulin genetic variations in frontotemporal l... Neurogenetics 9: 197-205, 2008 (PubMed ID: 18392865)

Mutations

GRN: (Thr272fs)

ID: 523

Boteva K, Vitek M, Mitsuda H et al. Mutation analysis of presenillin 1 gene in Alzheim... The Lancet 347: 130-131, 1996 (PubMed ID: 8538334)

Mutations

PSEN1: (Met139Val) (Met139Ile) (His163Arg)

ID: 11

Brice A. . Personal Communication : , 2005

Mutations

MAPT: (Gln424Lys)

ID: 363

Bronner IF, Rizzu P, Seelaar H et al. Progranulin mutations in Dutch familial frontotemp... European Journal of Human Genetics 15: 369-374, 2007 (PubMed ID: 17228326)

Mutations

GRN: (Ser82fs) (Gly93) (Gln125X) (Thr182Met) (Pro233Gln) (Val411fs) (Gly414Val) (Arg418Gln) (His447) (Trp541Cys)

ID: 430

Bronner IF, Ter Meulen BC, Azmani A et al. Hereditary Pick's disease with the G272V tau mutat... Brain 128: 2645-2653, 2005 (PubMed ID: 16014652)

Mutations

MAPT: (Gly272Val)

ID: 355

Brooks WS, Kwok JB, Kril JJ et al. Alzheimer's disease with spastic paraparesis and '... Brain 126: 783-791, 2003 (PubMed ID: 12615638)

Mutations

PSEN1: (Δ9) (Δ9)

ID: 169

Brooks WS, Martins RN, De Voecht J et al. A mutation in codon 717 of the amyloid precursor p... Neuroscience Letters 199: 183-186, 1995 (PubMed ID: 8577393)

Mutations

APP: (Val717Ile; London APP)

ID: 48

Brouwers N, Sleegers K, Engelborghs S et al. Genetic variability in progranulin contributes to... Neurology 71: 656-664, 2008 (PubMed ID: 18565828)

Mutations

GRN: (Asp33Glu) (Cys139Arg) (Arg212Gln) (Leu261Ile) (Ala324Thr) (Arg433Trp) (Pro451Leu) (Val514Met) (Gly515Ala) (Arg564Cys)

ID: 530

Brouwers N, Sleegers K, Van Broeckhoven C. Molecular genetics of Alzheimer's disease: an upda... Annals of Medicine 40: 562-583, 2008 (PubMed ID: 18608129)

Mutations

APP: (Glu682Lys; Leuven APP)
PSEN2: (Arg62Cys) (Arg71Trp)

ID: 578

Brouwers N, Nuytemans K, van der Zee J et al. Alzheimer and Parkinson diagnoses in progranulin n... Archives of Neurology 64: 1436-1446, 2007 (PubMed ID: 17923627)

Mutations

GRN: (IVS1+5G>C) (Arg535X)

ID: 498

Brouwers N, Sleegers K, Engelborghs S et al. Genetic risk and transcriptional variability of am... Brain 129: 2984-2991, 2006 (PubMed ID: 16931535)

Mutations

APP: (Val717Ile; London APP)

ID: 528

Brouwers N, Sleegers K, Theuns J et al. Contribution of dementia genes to Alzheimer's dise... Alzheimer's & Dementia 2 Supp 1: S191, 2006

Mutations

MAPT: (IVS10+29G>A)
PSEN1: (Cys263Phe)

ID: 542

Brown J, Lantos PL, Roques P et al. Familial dementia with swollen achromatic neurons... Journal of the Neurological Sciences 135: 21-30, 1996 (PubMed ID: 8926492)

Mutations

MAPT: (Asn296) (IVS10+16C>T)

ID: 212

Bruni AC, Bernardi L, Colao R et al. Worldwide distribution of PSEN1 Met146Leu mutation... Neurology 74: 798-806, 2010 (PubMed ID: 20164095)

Mutations

PSEN1: (Met146Leu)

ID: 670

Bruni AC, Momeni P, Bernardi L et al. Heterogeneity within a large kindred with frontote... Neurology 69: 140-147, 2007 (PubMed ID: 17620546)

Mutations

GRN: (Thr382fs)

ID: 453

Bugiani O. FTDP-17: phenotypical heterogeneity within P301S. Annals of Neurology 48: 126, 2000 (PubMed ID: 10894228)

Mutations

MAPT: (Pro301Ser)

ID: 219

Bugiani O, Murrell JR, Giaccone G et al. Frontotemporal dementia and corticobasal degenerat... Journal of Neuropathology and Experimental Neurology 58: 667-677, 1999 (PubMed ID: 10374757)

Mutations

MAPT: (Pro301Ser)

ID: 220

Cairns NJ, Perrin RJ, Schmidt RE et al. TDP-43 proteinopathy in familial motor neurone dis... Neuropathology and Applied Neurobiology 36: 673-679, 2010 (PubMed ID: 20819167)

Mutations

TARDBP: (Ala315Thr)

ID: 699

Campion D, Dumanchin C, Hannequin D et al. Early-onset autosomal dominant Alzheimer disease:... American Journal of Human Genetics 65: 664-670, 1999 (PubMed ID: 10441572)

Mutations

APP: (Val715Met; French APP) (Val717Ile; London APP)
PSEN1: (Val82Leu) (Tyr115His) (Glu120Asp) (Met139Thr) (Met146Leu) (Thr147Ile) (His163Arg) (Trp165Cys) (Leu173Trp) (Ala231Thr) (Met233Thr) (Leu235Pro) (Pro264Leu) (Ser390Ile) (Leu392Val) (Cys410Tyr)

ID: 78

Campion D, Brice A, Hannequin D et al. No founder effect in three novel Alzheimer's disea... Journal of Medical Genetics 33: 661-664, 1996 (PubMed ID: 8863158)

Mutations

APP: (Val717Ile; London APP)

ID: 46

Campion D, Brice A, Dumanchin C et al. A novel presenilin 1 mutation resulting in familia... Neuroreport 7: 1582-1584, 1996 (PubMed ID: 8904759)

Mutations

PSEN1: (Leu235Pro)

ID: 26

Campion D, Flaman JM, Brice A et al. Mutations of the presenilin I gene in families wit... Human Molecular Genetics 4: 2373-2377, 1995 (PubMed ID: 8634712)

Mutations

PSEN1: (Val82Leu) (Tyr115His) (Met139Thr) (His163Arg) (Ala231Thr) (Pro264Leu) (Leu392Val) (Cys410Tyr)

ID: 3

Campion D, Brice A, Hannequin D et al. A large pedigree with early-onset Alzheimer's dise... Neurology 45: 80-85, 1995 (PubMed ID: 7824141)

Mutations

PSEN1: (Leu392Val)

ID: 105

Cannon A, Baker M, Boeve B et al. CHMP2B mutations are not a common cause of frontot... Neuroscience Letters 398: 83-84, 2006 (PubMed ID: 16431024)

Mutations

CHMP2B: (Ile29Val) (Thr104) (Thr124)

ID: 468

Carecchio M, Fenoglio C, De Riz M et al. Progranulin plasma levels as potential biomarker f... Journal of the Neurological Sciences 287: 291-293, 2009 (PubMed ID: 19683260)

Mutations

GRN: (Gln130fs) (Thr272fs)

ID: 619

Carter DA, Desmarais E, Bellis M et al. More missense in amyloid gene. Nature Genetics 2: 255-256, 1992 (PubMed ID: 1303275)

Mutations

APP: (Ala713Thr)

ID: 153

Caviness JN, Tsuboi Y, Wszolek ZK. Clinical-electrophysiological correlation of tremo... Parkinsonism and Related Disorders 9: 151-157, 2003 (PubMed ID: 12573870)

Mutations

MAPT: (Asn279Lys)

ID: 194

Cervenakova L, Brown P, Sandoval F et al. Identification of presenilin-1 gene point mutation... American Journal of Human Genetics 59 Supp: A252, 1996

Mutations

PSEN1: (Met146Val) (Met146Ile) (His163Arg) (Cys410Tyr)

ID: 16

Chartier-Harlin MC, Crawford F, Houlden H et al. Early-onset Alzheimer's disease caused by mutation... Nature 353: 844-846, 1991 (PubMed ID: 1944558)

Mutations

APP: (Val717Gly)

ID: 40

Cheshire WP, Tsuboi Y, Wszolek ZK. Physiologic assessment of autonomic dysfunction in... Autonomic Neuroscience 102: 71-77, 2002 (PubMed ID: 12492138)

Mutations

MAPT: (Asn279Lys)

ID: 195

Chiang HH, Rosvall L, Brohede J et al. Progranulin mutation causes frontotemporal dementi... Alzheimer's & Dementia 4: 414-420, 2008 (PubMed ID: 19012866)

Mutations

GRN: (Asp33) (Gly35fs)

ID: 566

Chiò A, Borghero G, Pugliatti M et al. Large proportion of amyotrophic lateral sclerosis... Archives of Neurology 68: 594-598, 2011 (PubMed ID: 21220647)

Mutations

TARDBP: (Ala382Thr)

ID: 697

Church A, Prescott J, Lillis S et al. A novel presenilin 1 mutation, I202F occurring at... Neurobiology of Aging 32: 556.e1-2, 2011 (PubMed ID: 21144619)

Mutations

PSEN1: (Ile202Phe)

ID: 715

Clarimón J, Guerreiro R, Lleó A et al. Genetic screening in a large cohort of early-onset... Alzheimer's & Dementia 4 Supp 2: T583, 2008

Mutations

APP: (Ile716Phe)
PSEN1: (His214Asp) (Leu248Arg) (Ser365Ala)
PSEN2: (Met174Val)

ID: 539

Clark LN, Poorkaj P, Wszolek Z et al. Pathogenic implications of mutations in the tau ge... Proceedings of the National Academy of Sciences USA 95: 13103-13107, 1998 (PubMed ID: 9789048)

Mutations

MAPT: (Asn279Lys) (Pro301Leu) (IVS10+14C>T)

ID: 196

Clark RF, Hutton M, Fuldner RA et al. The structure of the presenilin 1 (S182) gene and... Nature Genetics 11: 219-222, 1995 (PubMed ID: 7550356)

Mutations

PSEN1: (Met139Val) (Met146Leu) (Met146Val) (His163Tyr) (Pro267Ser) (Glu280Ala) (Glu280Gly)

ID: 13

Colacicco AM, Panza F, Basile AM et al. F175S change and a novel polymorphism in presenili... European Neurology 47: 209-213, 2002 (PubMed ID: 12037434)

Mutations

PSEN1: (Phe175Ser)

ID: 156

Coleman P, Kurlan R, Crook R et al. A new presenilin Alzheimer's disease case confirms... Neuroscience Letters 364: 139-140, 2004 (PubMed ID: 15196662)

Mutations

PSEN1: (Leu226Arg)

ID: 319

Colombo R, Tavian D, Baker MC et al. Recent origin and spread of a common Welsh MAPT sp... Neurogenetics 10: 313-318, 2009 (PubMed ID: 19365643)

Mutations

MAPT: (IVS10+16C>T)

ID: 583

Coppola G, Karydas A, Rademakers R et al. Gene expression study on peripheral blood identifi... Annals of Neurology 64: 92-96, 2008 (PubMed ID: 18551524)

Mutations

GRN: (Ser226fs;) (Val279fs;IVS8-1G>C)

ID: 536

Corrado L, Del Bo R, Castellotti B et al. Mutations of FUS gene in sporadic amyotrophic late... Journal of Medical Genetics 47: 190-194, 2010 (PubMed ID: 19861302)

Mutations

FUS: (Gly172_Gly175del) (Gly174_Gly175del; delGG) (Gly191Ser) (Arg216Cys) (Gly225Val) (Gly226Ser) (Gly229_Gly230delGG) (Gly228_Gly230delGGG) (Gly227_Gly230delGGGG) (Gly229_Gly230delGG) (Gly230delG) (Gly230_Tys231insG) (Gly230_Tys231insGG) (Gly229_Gly230delGG) (Gly230Cys) (Arg234Cys) (Gly507Asp) (Arg521Cys)

ID: 658

Corrado L, Ratti A, Gellera C et al. High frequency of TARDBP gene mutations in Italian... Human Mutation 30: 688-694, 2009 (PubMed ID: 19224587)

Mutations

TARDBP: (Ser29) (Ala66) (Asn267Ser) (Gly287Ser) (Gly294Val) (Gly295Ser) (Gly295Arg) (Ala315) (Ser332Asn) (Gly335Asp) (Met337Val) (Ser379Pro) (Ser379Cys) (Ala382Thr) (Ser393Leu)

ID: 600

Cortini F, Fenoglio C, Guidi I et al. Novel exon 1 progranulin gene variant in Alzheimer... European Journal of Neurology 15: 1111-1117, 2008 (PubMed ID: 18752597)

Mutations

GRN: (Asp33) (Gly35Arg)

ID: 540

Cox LE, Ferraiuolo L, Goodall EF et al. Mutations in CHMP2B in lower motor neuron predomin... PLoS One 5: e9872, 2010 (PubMed ID: 20352044)

Mutations

CHMP2B: (Ile29Val) (Thr104Asn) (Gln206His)

ID: 661

Crawford F, Freeman M, Town T et al. No genetic association between polymorphisms in th... Neuroscience Letters 266: 193-196, 1999 (PubMed ID: 10465706)

Mutations

MAPT: (EX6 His47Tyr) (EX6 Ser53Pro)

ID: 311

Crook R, Verkkoniemi A, Perez-Tur J et al. A variant of Alzheimer's disease with spastic para... Nature Medicine 4: 452-455, 1998 (PubMed ID: 9546792)

Mutations

PSEN1: (Δ9Finn)

ID: 56

Crook R, Ellis R, Shanks M et al. Early-onset Alzheimer's disease with a presenilin-... Annals of Neurology 42: 124-128, 1997 (PubMed ID: 9225696)

Mutations

PSEN1: (Asn135Asp)

ID: 10

Cruchaga C, Fernández-Seara MA, Seijo-Martínez M et al. Cortical Atrophy and Language Network Reorganizati... Cerebral Cortex 19: 1751-1760, 2009 (PubMed ID: 19020205)

Mutations

GRN: (Cys521Tyr)

ID: 577

Cruts M, Gijselinck I, van der Zee J et al. Null mutations in progranulin cause ubiquitin-posi... Nature 442: 920-924, 2006 (PubMed ID: 16862115)

Mutations

GRN: (IVS1+5G>C) (Met1) (Gln125X) (Pro127fs) (Ala237fs)

ID: 378

Cruts M, Dermaut B, Rademakers R et al. Novel APP mutation V715A associated with presenile... Journal of Neurology 250: 1374-1375, 2003 (PubMed ID: 14648157)

Mutations

APP: (Val715Ala; German APP)

ID: 405

Cruts M, Dermaut B, Kumar-Singh S et al. Novel German APP V715A mutation associated with pr... Neurobiology of Aging 23 (1S): S327, 2002

Mutations

APP: (Val715Ala; German APP)

ID: 127

Cruts M, van Duijn CM, Backhovens H et al. Estimation of the genetic contribution of presenil... Human Molecular Genetics 7: 43-51, 1998 (PubMed ID: 9384602)

Mutations

PSEN1: (Ala79Val) (Tyr115Cys) (Ala231Val) (Glu318Gly)
PSEN2: (Arg62His)

ID: 2

Cruts M, Backhovens H, Wang SY et al. Molecular genetic analysis of familial early-onset... Human Molecular Genetics 4: 2363-2372, 1995 (PubMed ID: 8634711)

Mutations

PSEN1: (Ile143Thr) (Gly384Ala)

ID: 1

Daoud H, Valdmanis PN, Kabashi E et al. Contribution of TARDBP mutations to sporadic amyot... Journal of Medical Genetics 46: 112-114, 2009 (PubMed ID: 18931000)

Mutations

TARDBP: (Ala66) (Gly348Cys) (Pro363Ala) (Tyr374X) (Ala382Pro)

ID: 598

Dark F. A family with autosomal dominant, non-Alzheimer's... The Australian and New Zealand Journal of Psychiatry 31: 139-144, 1997 (PubMed ID: 9088499)

Mutations

MAPT: (IVS10+16C>T)

ID: 276

Davion S, Johnson N, Weintraub S et al. Clinicopathologic correlation in PGRN mutations. Neurology 69: 1113-1121, 2007 (PubMed ID: 17522386)

Mutations

GRN: (Ser226fs;) (Ala237fs) (Arg493X)

ID: 473

De Jonghe C, Esselens C, Kumar-Singh S et al. Pathogenic APP mutations near the gamma-secretase... Human Molecular Genetics 10: 1665-1671, 2001 (PubMed ID: 11487570)

Mutations

APP: (Thr714Ile, Austrian APP) (Val715Met; French APP) (Val715Ala; German APP) (Ile716Val; Florida APP) (Val717Ile; London APP) (Val717Leu;Indiana-2)

ID: 128

De Jonghe C, Kumar-Singh S, Cruts M et al. Unusual Aβ amyloid deposition in Alzheimer's... Neurobiology of Aging 21 Supp1: S200, 2000

Mutations

APP: (Thr714Ile, Austrian APP)

ID: 98

De Jonghe C, Cruts M, Rogaeva EA et al. Aberrant splicing in the presenilin-1 intron 4 mut... Human Molecular Genetics 8: 1539-1540, 1999 (PubMed ID: 10401002)

Mutations

PSEN1: (Intron4; InsTAC)

ID: 63

DeJesus-Hernandez M, Mackenzie IR, Boeve BF et al. Expanded GGGGCC hexanucleotide repeat in noncoding... Neuron 72: 245-256, 2011 (PubMed ID: 21944778)

Mutations

C9orf72: (G4C2 hexanucleotide repeat expansion)

ID: 694

DeJesus-Hernandez M, Kocerha J, Finch N et al. De novo truncating FUS gene mutation as a cause of... Human Mutation 31: E1377-1389, 2010 (PubMed ID: 20232451)

Mutations

FUS: (Ser402_Pro411delinsGGGG) (Gly466ValfsX15)

ID: 672

Del Bo R, Corti S, Santoro D et al. No major progranulin genetic variability contribut... Neurobiology of Aging 32: 1157-1158, 2011 (PubMed ID: 19632744)

Mutations

GRN: (Arg19Trp) (Asp33) (Ser120Tyr) (Asp128) (Asp518)

ID: 615

Del Bo R, Ghezzi S, Corti S et al. TARDBP (TDP-43) sequence analysis in patients with... European Journal of Neurology 16: 727-732, 2009 (PubMed ID: 19236453)

Mutations

TARDBP: (Ala66) (Gly294Val) (Gly295Ser) (Gly348Cys) (Ala382Thr)

ID: 596

Delisle MB, Murrell JR, Richardson R et al. A mutation at codon 279 (N279K) in exon 10 of the... Acta Neuropathologica 98: 62-77, 1999 (PubMed ID: 10412802)

Mutations

MAPT: (Asn279Lys)

ID: 204

Dermaut B, Kumar-Singh S, Engelborghs S et al. A novel presenilin 1 mutation associated with Pick... Annals of Neurology 55: 617-626, 2004 (PubMed ID: 15122701)

Mutations

PSEN1: (Gly183Val)

ID: 316

Dermaut B, Kumar-Singh S, De Jonghe C et al. Cerebral amyloid angiopathy is a pathogenic lesion... Brain 124: 2383-2392, 2001 (PubMed ID: 11701593)

Mutations

PSEN1: (Leu282Val)

ID: 115

Dermaut B, Cruts M, Slooter AJ et al. The Glu318Gly substitution in presenilin 1 is not... American Journal of Human Genetics 64: 290-292, 1999 (PubMed ID: 9915968)

Mutations

PSEN1: (Glu318Gly)

ID: 163

Devi G, Fotiou A, Jyrinji D et al. Novel presenilin 1 mutations associated with early... Archives of Neurology 57: 1454-1457, 2000 (PubMed ID: 11030797)

Mutations

PSEN1: (Ala434Cys)

ID: 110

Dickson DW. Neurodegenerative diseases with cytoskeletal patho... Annals of Neurology 42: 541-544, 1997

Mutations

MAPT: (Arg406Trp)

ID: 246

Djamshidian A, Schaefer J, Haubenberger D et al. A novel mutation in the VCP gene (G157R) in a germ... Muscle & Nerve 39: 389-391, 2009 (PubMed ID: 19208399)

Mutations

VCP: (Gly157Arg)

ID: 580

Dobricic V, Stefanova E, Jankovic M et al. Genetic testing in familial and young-onset Alzhei... Neurobiology of Aging 33: 1481.e7-12, 2012 (PubMed ID: 22221884)

Mutations

APP: (Leu723Pro; Australian APP)
PSEN1: (Arg108Gln) (Gly206Asp)
PSEN2: (Arg62His) (Pro69Ala)

ID: 711

Dolzhanskaya N, Gonzalez MA, Sperziani F et al. A novel p.Leu(381)Phe mutation in presenilin 1 is... Journal of Alzheimer's Disease 39: 23-27, 2014 (PubMed ID: 24121961)

Mutations

PSEN1: (Leu381Phe)

ID: 705

Doran M, du Plessis DG, Ghadiali EJ et al. Familial early-onset dementia with tau intron 10 +... Archives of Neurology 64: 1535-1539, 2007 (PubMed ID: 17923640)

Mutations

MAPT: (IVS10+16C>T)

ID: 476

Doran M et al. Familial Alzheimer's disease due to presenilin-1 Y... Journal of Neurology 253 Suppl 2: ii91, 2006 (PubMed ID: 16710641)

Mutations

PSEN1: (Tyr115Cys)

ID: 408

Doran M et al. Prominent behavioural and psychiatric symptoms in... European Archives of Psychiatry and Clinical Neuroscience 254: 187-189, 2004 (PubMed ID: 15205973)

Mutations

PSEN1: (Arg269Gly)

ID: 353

Dowjat K, Kuchna I, Wisniewski K et al. Another highly pathogenic Alzheimer presenilin-1 m... Neurobiology of Aging 23 (1S): S219, 2002

Mutations

PSEN1: (Pro117Ser)

ID: 133

Dowjat WK, Kuchna I, Wisniewski T et al. A novel highly pathogenic Alzheimer presenilin-1 m... Journal of Alzheimer's Disease 6: 31-43, 2004 (PubMed ID: 15004326)

Mutations

PSEN1: (Pro117Ser) (Pro117Leu)

ID: 366

Drepper C, Herrmann T, Wessig C et al. C-terminal FUS/TLS mutations in familial and spora... Neurobiology of Aging 32: 548.e1-548.e4, 2011 (PubMed ID: 20018407)

Mutations

FUS: (Arg521Cys) (Arg522)

ID: 632

D'Souza I, Poorkaj P, Hong M et al. Missense and silent tau gene mutations cause front... Proceedings of the National Academy of Sciences USA 96: 5598-5603, 1999 (PubMed ID: 10318930)

Mutations

MAPT: (Leu284) (IVS10+29G>A)

ID: 211

Dumanchin C, Tournier I, Martin C et al. Biological effects of four PSEN1 gene mutations ca... Human Mutation 27: 1063, 2006 (PubMed ID: 16941492)

Mutations

PSEN1: (Pro264Leu) (Glu280Gly) (869-22_869-23ins18) (Thr291Pro)

ID: 412

Dumanchin C, Camuzat A, Campion D et al. Segregation of a missense mutation in the microtub... Human Molecular Genetics 7: 1825-1829, 1998 (PubMed ID: 9736786)

Mutations

MAPT: (Pro301Leu)

ID: 250

Dumanchin C, Brice A, Campion D et al. De novo presenilin 1 mutations are rare in clinica... Journal of Medical Genetics 35: 672-673, 1998 (PubMed ID: 9719376)

Mutations

PSEN1: (Met139Lys)

ID: 74

Dunø M, Lindquist S, Puschmann A et al. . Personal Communication : , 2009

Mutations

PSEN2: (Arg163His)

ID: 576

Eckman CB, Mehta ND, Crook R et al. A new pathogenic mutation in the APP gene (I716V)... Human Molecular Genetics 6: 2087-2089, 1997 (PubMed ID: 9328472)

Mutations

APP: (Ile716Val; Florida APP)

ID: 39

Edwards-Lee T, Wen J, Bell J et al. A presenilin-1 mutation (T245P) in transmembrane d... Neuroscience Letters 398: 251-252, 2006 (PubMed ID: 16469444)

Mutations

PSEN1: (Thr245Pro)

ID: 386

Edwards-Lee T, Ringman JM, Chung J et al. An African American family with early-onset Alzhei... Neurology 64: 377-379, 2005 (PubMed ID: 15668448)

Mutations

APP: (Thr714Ile, Austrian APP)

ID: 370

Ertekin-Taner N, Younkin LH, Yager DM et al. Plasma amyloid beta protein is elevated in late-on... Neurology 70: 596-606, 2008 (PubMed ID: 17914065)

Mutations

PSEN2: (Arg62Cys) (Arg62His)

ID: 684

Ezquerra M, Lleo A, Castellvi M et al. A novel mutation in the PSEN2 gene (T430M) associa... Archives of Neurology 60: 1149-1151, 2003 (PubMed ID: 12925374)

Mutations

PSEN2: (Thr430Met)

ID: 303

Ezquerra M, Carnero C, Blesa R et al. A novel presenilin 1 mutation (Leu166Arg) associat... Archives of Neurology 57: 485-488, 2000 (PubMed ID: 10768621)

Mutations

PSEN1: (Leu166Arg)

ID: 84

Ezquerra M, Carnero C, Blesa R et al. A presenilin 1 mutation (Ser169Pro) associated wit... Neurology 52: 566-570, 1999 (PubMed ID: 10025789)

Mutations

PSEN1: (Ser169Pro)

ID: 70

Fang B, Jia L, Jia J. Chinese Presenilin-1 V97L mutation enhanced Abeta4... Neuroscience Letters 406: 33-37, 2006 (PubMed ID: 16916581)

Mutations

PSEN1: (Val97Leu)

ID: 388

Fang BY et al. The effect of two newly Chinese presenilin-1 mutat... Zhonghua Yi Xue Za Zhi 87: 336-340, 2007 (PubMed ID: 17456364)

Mutations

PSEN1: (Val97Leu) (Ala136Gly)

ID: 575

Farlow MR, Murrell J,Unverzagt FW et al. Familial Alzheimer's disease with spastic parapare... Alzheimer's disease: advances in etiology, pathogenesis and therapeutics Chapter 6: 53-60, 2001

Mutations

PSEN1: (Val261Phe)

ID: 565

Farlow MR, Murrell JR, Hulette CM et al. Hereditary lateral sclerosis and Alzheimer disease... Neurobiology of Aging 21 Supp1: S62, 2000

Mutations

PSEN1: (Val261Phe)

ID: 92

Ferman TJ, McRae CA, Arvanitakis Z et al. Early and pre-symptomatic neuropsychological dysfu... Parkinsonism and Related Disorders 9: 265-270, 2003 (PubMed ID: 12781592)

Mutations

MAPT: (Asn279Lys)

ID: 197

Fernandez-Madrid I, Levy E, Marder K et al. Codon 618 variant of Alzheimer amyloid gene associ... Annals of Neurology 30: 730-733, 1991 (PubMed ID: 1763898)

Mutations

APP: (Glu693Gln; Dutch APP)

ID: 138

Ferrer I, Pastor P, Rey MJ et al. Tau phosphorylation and kinase activation in famil... Neuropathology and Applied Neurobiology 29: 23-34, 2003 (PubMed ID: 12581337)

Mutations

MAPT: (ΔN296)

ID: 213

Fidani L, Rooke K, Chartier-Harlin MC et al. Screening for mutations in the open reading frame... Human Molecular Genetics 1: 165-168, 1992 (PubMed ID: 1303172)

Mutations

APP: (Val717Ile; London APP)

ID: 44

Finch N, Baker M, Crook R et al. Plasma progranulin levels predict progranulin muta... Brain 132: 583-591, 2009 (PubMed ID: 19158106)

Mutations

GRN: (Gln130fs) (Cys139Arg) (Arg198fs) (Ala324Thr) (Arg433Trp) (His447) (IVS11-15_EX12+177del; Δ12; A472fs) (Pro578)

ID: 610

Finckh U, Kuschel C, Anagnostouli M et al. Novel mutations and repeated findings of mutations... Neurogenetics 6: 85-89, 2005 (PubMed ID: 15776278)

Mutations

APP: (Val717Ile; London APP) (Val717Leu;Indiana-2) (Val717Phe;Indiana)
PSEN1: (Leu113Gln) (Tyr115His) (Asn135Ser) (Met146Leu) (Leu235Pro) (Gly378Glu)
PSEN2: (Thr122Pro) (Asn141Ile; Volga-German)

ID: 354

Finckh U, Alberici A, Antoniazzi M et al. Variable expression of familial Alzheimer disease... Neurology 54: 2006-2008, 2000 (PubMed ID: 10822446)

Mutations

PSEN2: (Met239Ile)

ID: 85

Finckh U, Muller-Thomsen T, Mann U et al. High Prevalence of Pathogenic Mutations in Patient... American Journal of human Genetics 66: 110-117, 2000 (PubMed ID: 10631141)

Mutations

APP: (Val717Ile; London APP)
PSEN1: (Ala79Val) (Phe105Leu) (Met139Val)
PSEN2: (Thr122Pro) (Met239Ile)

ID: 68

Forsell C, Froelich S, Axelman K et al. A novel pathogenic mutation (Leu262Phe) found in t... Neuroscience Letters 234: 3-6, 1997 (PubMed ID: 9347932)

Mutations

PSEN1: (Leu262Phe)

ID: 28

Forsell C et al. Amyloid precursor protein mutation at codon 713 (A... Neuroscience Letters 184: 90-93, 1995 (PubMed ID: 7724053)

Mutations

APP: (Ala713Val)

ID: 160

Fox NC, Kennedy AM, Harvey RJ et al. Clinicopathological features of familial Alzheimer... Brain 120: 491-501, 1997 (PubMed ID: 9126060)

Mutations

PSEN1: (Met139Val)

ID: 81

Frangipane F, Colao R, Mirabelli M et al. A novel progranulin mutation in a large frontotemp... Alzheimer's & Dementia 4 Supp 2: T604, 2008

Mutations

GRN: (Thr382fs)

ID: 606

Fray S, Ali NB, Rassas AA et al. Early psychiatrics symptoms in familial Alzheimer'... Journal of Neural Transmission 123: 451-453, 2016 (PubMed ID: 26695639)

Mutations

PSEN1: (Ile83Thr)

ID: 749

Freischmidt A, Wieland T, Richter B et al. Haploinsufficiency of TBK1 causes familial ALS and... Nature Neuroscience 18: 631-636, 2015 (PubMed ID: 25803835)

Mutations

TBK1: (Arg47His) (Tyr105Cys) (Thr77fs) (Tyr185X) (Ile305Thr) (Arg308Gln) (Thr320fs) (Arg357Gln) (Arg440X) (Ala417X) (Ile450fs) (Val479fs) (Met559Arg) (Ala571Val) (Met598Val) (Glu643del) (Glu696Lys) (Met690_Arg713del)

ID: 723

Furuya H, Yasuda M, Terasawa K et al. A novel mutation (L250V) in the presenilin 1 gene... Journal of the Neurological Sciences 209: 75-77, 2003 (PubMed ID: 12686406)

Mutations

PSEN1: (Leu250Val)

ID: 167

Galimberti D, Fenoglio C, Cortini F et al. Progranulin gene mutation scanning in Alzheimer’s... Alzheimer's & Dementia 4 Supp 2: T585, 2008

Mutations

GRN: (Gly35Arg)

ID: 550

Gallo M, Marcello N, Curcio SA et al. A novel pathogenic PSEN1 mutation in a family with... Journal of Alzheimer's Disease 25: 425-431, 2011 (PubMed ID: 21422519)

Mutations

PSEN1: (Ile143Val)

ID: 689

Gallo M, Tomaino C, Puccio G et al. Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in... Neurological Sciences 31: 65-70, 2009 (PubMed ID: 19768372)

Mutations

MAPT: (Val75Ala)
PSEN2: (Arg62His)

ID: 662

Gallo M, Tomaino C, Bernardi L et al. PS1 polymporphism and a novel PS2 mutation in a pa... Alzheimer's & Dementia 4 Supp 2: T585, 2008

Mutations

PSEN1: (Glu318Gly)
PSEN2: (Val139Met)

ID: 607

Gass J, Cannon A, Mackenzie IR et al. Mutations in progranulin are a major cause of ubiq... Human Molecular Genetics 15: 2988-3001, 2006 (PubMed ID: 16950801)

Mutations

GRN: (Met1) (Ala9Asp) (Arg19Trp) (Asp22fs) (Cys31fs) (Asp33) (Gly35fs) (IVS2+1G>A) (Thr52fs) (Gly79fs) (Glu88) (Cys105Arg) (Asp128) (Gln130fs) (Ala155fs) (Ser226fs;) (Asn236) (Val200fs) (Cys253X) (Val279fs;IVS8-1G>C) (Glu287Asp) (Ser301) (Trp304fs) (Trp304X) (Val279fs) (Ala324Thr) (Gly333fs) (Thr382fs) (Trp386X) (Arg418X) (Arg418Gln) (Arg433Trp) (Cys466fs) (Cys474) (Arg493X) (Gly515Ala)

ID: 407

Geschwind D, Karrim J, Nelson SF et al. The apolipoprotein E epsilon4 allele is not a sign... Annals of Neurology 44: 134-138, 1998 (PubMed ID: 9667603)

Mutations

MAPT: (Pro301Leu)

ID: 251

Ghetti B, Hake AM, Murrell JR et al. Familial Alzheimer disease associated with the V71... Alzheimer's & Dementia 4 Supp 2: T585, 2008

Mutations

APP: (Val717Leu;Indiana-2)

ID: 549

Ghetti B, Spina S, Murrell JR et al. In vivo and postmortem clinicoanatomical correlati... Neurodegenerative Diseases 5: 215-217, 2008 (PubMed ID: 18322394)

Mutations

GRN: (Ala9Asp) (Ala237fs) (Arg493X)
MAPT: (IVS10+3G>A) (Gly335Ser)

ID: 506

Ghetti B, Murrell JR, Zolo P et al. Progress in hereditary tauopathies: a mutation in... Proceedings of the National Academy of Sciences USA 920: 52-62, 2000 (PubMed ID: 11193177)

Mutations

MAPT: (Gly389Arg)

ID: 241

Giaccone G, Rossi G, Farina L et al. Familial frontotemporal dementia associated with t... Journal of Neurology 252: 1543-1545, 2005 (PubMed ID: 15940384)

Mutations

MAPT: (Thr427Met)

ID: 356

Giaccone G, Rossi G, Di Fede G et al. Familial Frontotemporal dementia is associated wit... Neurobiology of Aging 25 (S2): 449-450, 2004

Mutations

MAPT: (Thr427Met)

ID: 331

Giaccone G, Rossi G, Morbin M et al. A713T mutation of the APP gene in an Italian famil... Neurobiology of Aging 23 Supp 1: 320, 2002

Mutations

APP: (Ala713Thr)

ID: 564

Gidaro T, Modoni A, Sabatelli M et al. An Italian family with inclusion-body myopathy and... Muscle & Nerve 37: 111-114, 2008 (PubMed ID: 17763460)

Mutations

VCP: (Arg155Cys)

ID: 487

Gijselinck I, Van Mossevelde S, van der Zee J et al. Loss of TBK1 is a frequent cause of frontotemporal... Neurology 85: 2116-2125, 2015 (PubMed ID: 26581300)

Mutations

TBK1: (Gln2X) (Asp167del) (Arg271Leu) (Lys291Glu) (His322Tyr) (Gly272_Thr331del) (Ser398fs) (Ile515Thr) (Ser518fs) (Ala535Thr) (Glu643del)

ID: 744

Gijselinck I, Van Langenhove T, van der Zee J et al. A C9orf72 promoter repeat expansion in a Flanders-... The Lancet Neurology 11: 54-65, 2012 (PubMed ID: 22154785)

Mutations

C9orf72: (G4C2 hexanucleotide repeat expansion)

ID: 692

Gijselinck I, Sleegers K, Engelborghs S et al. Neuronal inclusion protein TDP-43 has no primary g... Neurobiology of Aging 30: 1329-1331, 2009 (PubMed ID: 18068872)

Mutations

TARDBP: (Ala66) (Tyr214)

ID: 605

Gijselinck I, Van Broeckhoven C, Cruts M. Granulin mutations associated with frontotemporal... Human Mutation 29: 1373-1386, 2008 (PubMed ID: 18543312)

Mutations

GRN: (Phe86fs) (Ala89fs;IVS3+2T>C) (Asn118fs) (Ala303fs)

ID: 543

Gijselinck I, van der Zee J, Engelborghs S et al. Progranulin locus deletion in frontotemporal demen... Human Mutation 29: 53-58, 2008 (PubMed ID: 18157829)

Mutations

GRN: (delGRN[DR184])

ID: 499

Giliberto L, Assubu A, Borghi R et al. Pure spastic paraparesis associated with a novol p... Neurobiology of Aging 23 (1S): S315-S316, 2002

Mutations

PSEN1: (Arg278Lys)

ID: 134

Gitcho MA, Baloh RH, Chakraverty S et al. TDP-43 A315T mutation in familial motor neuron dis... Alzheimer's & Dementia 4 Supp 2: T606, 2008

Mutations

TARDBP: (Ala315Thr)

ID: 594

Gitcho MA, Baloh RH, Chakraverty S et al. TDP-43 A315T mutation in familial motor neuron dis... Annals of Neurology 63: 535-538, 2008 (PubMed ID: 18288693)

Mutations

TARDBP: (Ala66) (Ala315Thr)

ID: 590

Gliebus G, Rosso A, Lippa CF. Progranulin and beta-amyloid distribution: a case... American Journal of Alzheimer's Disease & Other Dementias 24: 456-460, 2009 (PubMed ID: 19776335)

Mutations

PSEN1: (Ala246Glu)

ID: 665

Goate A, Chartier-Harlin MC, Mullan M et al. Segregation of a missense mutation in the amyloid... Nature 349: 704-706, 1991 (PubMed ID: 1671712)

Mutations

APP: (Val717Ile; London APP)

ID: 41

Godbolt AK, Beck JA, Collinge JC et al. A second family with familial AD and the V717L APP... Neurology 66: 611-612, 2006 (PubMed ID: 16505331)

Mutations

APP: (Val717Leu;Indiana-2)

ID: 434

Godbolt AK, Beck JA, Collinge J et al. A presenilin 1 R278I mutation presenting with lang... Neurology 63: 1702-1704, 2004 (PubMed ID: 15534260)

Mutations

PSEN1: (Arg278Ile)

ID: 340

Goedert M, Spillantini MG, Crowther RA et al. Tau gene mutation in familial progressive subcorti... Nature Medicine 5: 454-457, 1999 (PubMed ID: 10202939)

Mutations

MAPT: (IVS10+16C>T)

ID: 277

Golan M, Lipczynska-Lojkowska W, Krzysko KA et al. Two novel mutations in presenilin 1 (PSEN1) gene c... Alzheimer's and Parkinson's Diseases: Insights, Progress and Perspectives. 7th International Conference AD/PD 2005 Book of Abstracts : 24, 2005

Mutations

PSEN1: (Leu226Phe) (Leu424His)

ID: 459

Golan MP, Styczynska M, Józwiak K et al. Early-onset Alzheimer's disease with a de novo mut... Experimental Neurology 208: 264-268, 2007 (PubMed ID: 17931627)

Mutations

PSEN1: (Ser170Phe)

ID: 475

Golan MP, Styczynska M, Pniewski J et al. The patient with de novo S170F presenilin 1 gene m... Neurodegenerative Diseases 4 Supp 1: 28, 2007

Mutations

PSEN1: (Ser170Phe)

ID: 457

Goldman JS, Johnson JK, McElligott K et al. Presenilin 1 Glu318Gly polymorphism: interpret wit... Archives of Neurology 62: 1624-1627, 2005 (PubMed ID: 16216949)

Mutations

PSEN1: (Glu318Gly)

ID: 573

Goldman JS, Reed B, Gearhart R et al. Very early-onset familial Alzheimer's disease: a n... International Journal of Geriatric Psychiatry 17: 649-651, 2002 (PubMed ID: 12112163)

Mutations

PSEN1: (Gly206Val)

ID: 166

Gomez-Isla T, Wasco W, Pettingell WP et al. A novel presenilin-1 mutation: increased beta-amyl... Annals of Neurology 41: 809-813, 1997 (PubMed ID: 9189043)

Mutations

PSEN1: (Arg269His)

ID: 31

Gómez-Tortosa E, Barquero S, Barón M et al. Clinical-genetic correlations in familial Alzheime... Journal of Alzheimer's Disease 19: 873-884, 2010 (PubMed ID: 20157243)

Mutations

PSEN1: (Phe105Val) (Pro117Arg) (Glu120Gly) (His163Arg) (Leu226Phe) (Val261Leu) (Val272Ala) (Leu282Arg) (Ile439Ser)

ID: 657

Gómez-Tortosa E, Manzano S, Muñoz DG et al. Clinical phenotype of familial Alzheimer’s disease... Alzheimer's & Dementia 4 Supp 2: T586, 2008

Mutations

PSEN1: (His163Arg)

ID: 548

Grabowski TJ, Cho HS, Vonsattel JP et al. Novel amyloid precursor protein mutation in an Iow... Annals of Neurology 49: 697-705, 2001 (PubMed ID: 11409420)

Mutations

APP: (Asp694Asn; Iowa APP)

ID: 111

Greenberg SM, Shin Y, Grabowski TJ et al. Hemorrhagic stroke associated with the Iowa amyloi... Neurology 60: 1020-1022, 2003 (PubMed ID: 12654973)

Mutations

APP: (Asp694Asn; Iowa APP)

ID: 347

Groen EJ, van Es MA, van Vught PW et al. FUS mutations in familial amyotrophic lateral scle... Archives of Neurology 67: 224-230, 2010 (PubMed ID: 20142531)

Mutations

FUS: (Gln210His) (Ser462Phe) (Arg521Cys) (Arg521His)

ID: 644

Groen JJ et al. Hereditary Pick's disease: second re-examination o... Brain 105: 443-459, 1982 (PubMed ID: 7104662)

Mutations

MAPT: (Gly272Val)

ID: 185

Grover A, England E, Baker M et al. A novel tau mutation in exon 9 (1260V) causes a fo... Experimental Neurology 184: 131-140, 2003 (PubMed ID: 14637086)

Mutations

MAPT: (Ile260Val)

ID: 181

Guardia-Laguarta C, Pera M, Clarimón J et al. Clinical, neuropathologic, and biochemical profile... Journal of Neuropathology and Experimental Neurology 69: 53-59, 2010 (PubMed ID: 20010303)

Mutations

APP: (Ile716Phe)

ID: 679

Guerreiro RJ, Baquero M, Blesa R et al. Genetic screening of Alzheimer's disease genes in... Neurobiology of Aging 31: 725-731, 2010 (PubMed ID: 18667258)

Mutations

APP: (Ile716Phe) (His733Pro)
PSEN1: (Arg35Gln) (Thr116Asn) (Val191Ala) (His214Asp) (Met233Thr) (Leu248Arg) (Ala260Val) (Val272Ala) (Ser365Ala)
PSEN2: (Arg29His) (Arg62His) (Arg71Trp) (Leu143His) (Met174Val) (Ala252Thr)

ID: 538

Guerreiro RJ, Washecka N, Hardy J et al. A thorough assessment of benign genetic variabilit... Human Mutation 31: E1126-E1140, 2010 (PubMed ID: 20020531)

Mutations

GRN: (Leu14) (Arg19Trp) (Asp33) (Arg55Trp) (Ala69Thr) (Thr76) (Ala89) (Asp108) (Asn119del) (Ser120Tyr) (Asp128) (Pro134) (Ala169) (Thr182Met) (Thr182) (Cys221Ser) (Ser262) (Asp376Asn) (Ser398Leu) (Thr409) (Arg433Gln) (Ala505) (Gly515Ala) (Asp518) (Arg564His) (Cys565)
MAPT: (His14) (Thr17Met) (Tyr18) (Thr30Ala) (Pro200) (Ala227) (Asn255) (Leu266) (Pro270) (Val300Ile)

ID: 641

Guerreiro RJ, Schymick JC, Crews C et al. TDP-43 is not a common cause of sporadic amyotroph... PLoS One 3: e2450, 2009 (PubMed ID: 18545701)

Mutations

TARDBP: (Ala66) (Ala90Val) (Ala315) (Asn352)

ID: 604

Guerreiro RJ, Santana I, Bras JM et al. Novel progranulin mutation: Screening for PGRN mut... Movement Disorders 23: 1269-1273, 2008 (PubMed ID: 18464284)

Mutations

GRN: (Leu14) (Asp128) (Thr182Met) (Ser301fs)

ID: 526

Guo J, Wei J, Liao S et al. A novel presenilin 1 mutation (Ser169del) in a Chi... Neuroscience Letters 468: 34-37, 2010 (PubMed ID: 19853643)

Mutations

PSEN1: (Ser169del;ΔS169;ΔS170)

ID: 664

Gustafson L, Brun A, Englund E et al. A 50-year perspective of a family with chromosome-... Human Genetics 102: 253-257, 1998 (PubMed ID: 9544835)

Mutations

PSEN1: (Met146Ile)

ID: 72

Guyant-Marechal I, Berger E, Laquerrière A et al. Intrafamilial diversity of phenotype associated wi... Neurology 71: 1925-1926, 2008 (PubMed ID: 19047566)

Mutations

APP: (dupAPP)

ID: 585

Guyant-Maréchal L, Laquerrière A, Duyckaerts C et al. Valosin-containing protein gene mutations: clinica... Neurology 67: 644-651, 2006 (PubMed ID: 16790606)

Mutations

VCP: (Arg93Cys) (Arg155Cys)

ID: 482

Halliday GM, Song YJ, Lepar G et al. Pick bodies in a family with presenilin-1 Alzheime... Annals of Neurology 57: 139-143, 2005 (PubMed ID: 15622541)

Mutations

PSEN1: (Met146Leu) (Δ9) (Δ9)

ID: 385

Hamaguchi T, Morinaga A, Tsukie T et al. A novel presenilin 1 mutation (L282F) in familial... Journal of Neurology 256: 1575-1577, 2009 (PubMed ID: 19430857)

Mutations

PSEN1: (Leu282Phe)

ID: 608

Hardy J, Mullan M, Chartier-Harlin M-C et al. Molecular classification of Alzheimer's disease. The Lancet 337: 1342-1343, 1991 (PubMed ID: 1674311)

Mutations

APP: (Val717Ile; London APP)

ID: 45

Harvey RJ, Ellison D, Hardy J et al. Chromosome 14 familial Alzheimer's disease: the cl... Journal of Neurology, Neurosurgery and Psychiatry 64: 44-49, 1998 (PubMed ID: 9436726)

Mutations

PSEN1: (Leu250Ser)

ID: 80

Hattori S, Sakuma K, Wakutani Y et al. A novel presenilin 1 mutation (Y154N) in a patient... Neuroscience Letters 368: 319-322, 2004 (PubMed ID: 15364419)

Mutations

PSEN1: (Tyr154Asn)

ID: 332

Haubenberger D, Bittner RE, Rauch-Shorny S et al. Inclusion body myopathy and Paget disease is linke... Neurology 65: 1304-1305, 2005 (PubMed ID: 16247064)

Mutations

VCP: (Arg159His)

ID: 479

Hayashi S, Toyoshima Y, Hasegawa M et al. Late-onset frontotemporal dementia with a novel ex... Annals of Neurology 51: 525-530, 2002 (PubMed ID: 11921059)

Mutations

MAPT: (Arg5His)

ID: 177

Heckmann J, de Viliers C, Rutherfoord S et al. Novel presenilin 1 mutation with profound neurofib... Neurobiology of Aging 23 (1S): S321, 2002

Mutations

PSEN1: (Ile143Met)

ID: 130

Helisalmi S, Hiltunen M, Mannermaa A et al. Is the presenilin-1 E318G missense mutation a risk... Neuroscience Letters 278: 65-68, 2000 (PubMed ID: 10643802)

Mutations

PSEN1: (Glu318Gly)

ID: 164

Hendriks L, van Duijn CM, Cras P et al. Presenile dementia and cerebral haemorrhage linked... Nature Genetics 1: 218-221, 1992 (PubMed ID: 1303239)

Mutations

APP: (Ala692Gly; Flemish APP)

ID: 38

Heutink P, Stevens M, Rizzu P et al. Hereditary frontotemporal dementia is linked to ch... Annals of neurology 41: 150-159, 1997 (PubMed ID: 9029063)

Mutations

MAPT: (Gly272Val)

ID: 186

Hewitt C, Kirby J, Highley JR et al. Novel FUS/TLS mutations and pathology in familial... Archives of Neurology 67: 455-461, 2010 (PubMed ID: 20385912)

Mutations

FUS: (Gly174_Gly175del; delGG) (Gly228_Gly230delGGG) (Gly507Asp) (Arg524Trp)

ID: 675

Higgins JJ, Golbe LI, De Biase A et al. An extended 5'-tau susceptibility haplotype in pro... Neurology 55: 1364-1367, 2000 (PubMed ID: 11087782)

Mutations

MAPT: (Asp285Asn) (Val289Ala) (EX8 Thr2)

ID: 310

Higgins JJ, Adler RL, Loveless JM. Mutational analysis of the tau gene in progressive... Neurology 53: 1421-1424, 1999 (PubMed ID: 10534245)

Mutations

MAPT: (Asp285Asn) (Val289Ala) (EX8 Thr2)

ID: 308

Higuchi S, Yoshino A, Matsui T et al. A novel PS1 Mutation (W165G) in a Japanese family... Alzheimer's Reports 3: 227-231, 2000

Mutations

PSEN1: (Trp165Gly)

ID: 102

Hiltunen M, Helisalmi S, Mannermaa A et al. Identification of a novel 4.6-kb genomic deletion... European Journal of Human Genetics 8: 259-266, 2000 (PubMed ID: 10854108)

Mutations

PSEN1: (Δ9Finn)

ID: 90

Hogg M, Grujic ZM, Baker M et al. The L266V tau mutation is associated with frontote... Acta Neuropathologica 106: 323-336, 2003 (PubMed ID: 12883828)

Mutations

MAPT: (Leu266Val)

ID: 184

Hooli BV, Mohapatra G, Mattheisen M et al. Role of common and rare APP DNA sequence variants... Neurology 78: 1250-1257, 2012 (PubMed ID: 22491860)

Mutations

APP: (dupAPP[VI]) (dupAPP[BRB]) (Val717Leu;Indiana-2)

ID: 703

Houlden H, Crook R, Dolan RJ et al. A novel presenilin mutation (M233V) causing very e... Neuroscience Letters 313: 93-95, 2001 (PubMed ID: 11684347)

Mutations

PSEN1: (Met233Val)

ID: 114

Houlden H, Baker M, McGowan E et al. Variant Alzheimer's disease with spastic parapares... Annals of Neurology 48: 806-808, 2000 (PubMed ID: 11079548)

Mutations

PSEN1: (ΔI83/M84) (Δ9Finn) (Pro436Gln)

ID: 168

Houlden H, Baker M, Adamson J et al. Frequency of tau mutations in three series of non-... Annals of Neurology 46: 243-248, 1999 (PubMed ID: 10443890)

Mutations

MAPT: (Tyr18) (Thr39) (Ala178Thr) (Ala227) (Asn255) (Pro270) (Pro301Leu) (IVS10+13A>G) (IVS10+16C>T)

ID: 253

Hübbers CU, Clemen CS, Kesper K et al. Pathological consequences of VCP mutations on huma... Brain 130: 381-393, 2007 (PubMed ID: 16984901)

Mutations

VCP: (Arg93Cys) (Arg155Cys) (Arg155His)

ID: 649

Huey ED, Grafman J, Wassermann EM et al. Characteristics of frontotemporal dementia patient... Annals of Neurology 60: 374-380, 2006 (PubMed ID: 16983677)

Mutations

GRN: (Arg493X)
MAPT: (Pro301Ser)

ID: 414

Hulette CM, Pericak-Vance MA, Roses AD et al. Neuropathological features of frontotemporal demen... Journal of Neuropathology and Experimental Neurology 58: 859-866, 1999 (PubMed ID: 10446810)

Mutations

MAPT: (IVS10+16C>T)

ID: 278

Hüll M, Fiebich BL, Dykierek P et al. Early-onset Alzheimer's disease due to mutations o... European Archives of Psychiatry and Clinical Neuroscience 248: 123-129, 1998 (PubMed ID: 9728730)

Mutations

PSEN1: (Met139Val)

ID: 73

Hutton M. "Missing" tau mutation identified. Annals of Neurology 47: 417-418, 2000 (PubMed ID: 10762149)

Mutations

MAPT: (IVS10+12C>T)

ID: 270

Hutton M, Lendon CL, Rizzu P et al. Association of missense and 5'-splice-site mutatio... Nature 393: 702-705, 1998 (PubMed ID: 9641683)

Mutations

MAPT: (Gly272Val) (Pro301Leu) (IVS10+13A>G) (IVS10+14C>T) (IVS10+16C>T) (Arg406Trp)

ID: 187

Hutton M, Busfield F, Wragg M et al. Complete analysis of the presenilin 1 gene in earl... Neuroreport 7: 801-805, 1996 (PubMed ID: 8733749)

Mutations

PSEN1: (Glu120Lys) (Met139Val) (Leu250Ser) (Pro267Ser) (Glu280Gly) (Δ9)

ID: 9

Iijima M, Tabira T, Poorkaj P et al. A distinct familial presenile dementia with a nove... Neuroreport 10: 497-501, 1999 (PubMed ID: 10208578)

Mutations

MAPT: (Ser305Asn)

ID: 228

Ikeda M, Yonemura K, Kakuda S et al. Cerebrospinal fluid levels of phosphorylated tau a... Amyloid 20: 107-112, 2013 (PubMed ID: 23638752)

Mutations

PSEN1: (Thr99Ala) (His131Arg) (His163Arg) (Leu219Arg) (Met233Leu) (Val272Ala)

ID: 707

Ikeda M, Sharma V, Sumi SM et al. The clinical phenotype of two missense mutations i... Annals of Neurology 40: 912-917, 1996 (PubMed ID: 9007097)

Mutations

PSEN1: (Ala260Val) (Ala285Val)

ID: 449

Ikeuchi T, Kaneko H, Miyashita A et al. Mutational analysis in early-onset familial dement... Dementia and geriatric cognitive disorders 26: 43-49, 2008 (PubMed ID: 18587238)

Mutations

MAPT: (Arg406Trp)
PSEN1: (Leu286Val) (Gly378Glu) (Leu381Val) (Leu392Val)

ID: 545

Ingelson M, Fabre SF, Lilius L et al. Increased risk for frontotemporal dementia through... Neuroreport 12: 905-909, 2001 (PubMed ID: 11303757)

Mutations

MAPT: (Pro202Leu) (Asp285Asn) (Val289Ala) (Arg370Trp) (EX6 Ser53Pro) (EX8 Thr2) (Ala227) (Asn255)

ID: 309

Iseki E, Matsumura T, Marui W et al. Familial frontotemporal dementia and parkinsonism... Acta Neuropathologica 102: 285-292, 2001 (PubMed ID: 11585254)

Mutations

MAPT: (Asn296His)

ID: 215

Ishikawa A, Piao YS, Miyashita A et al. A mutant PSEN1 causes dementia with Lewy bodies an... Annals of Neurology 57: 429-434, 2005 (PubMed ID: 15732120)

Mutations

PSEN1: (ΔT440)

ID: 371

Jacquemont ML, Campion D, Hahn V et al. Spastic paraparesis and atypical dementia caused b... Journal of Medical Genetics 39: E2, 2002 (PubMed ID: 11836371)

Mutations

PSEN1: (Pro264Leu)

ID: 121

Jacquier M, Arango D, Torres O et al. Presenilin mutations in a Colombian familial and s... Neurobiology of Aging 21 Supp1: S176, 2000

Mutations

PSEN1: (Val94Met) (Glu280Ala)

ID: 96

Janssen JC, Beck JA, Campbell TA et al. Early onset familial Alzheimer's disease: Mutation... Neurology 60: 235-239, 2003 (PubMed ID: 12552037)

Mutations

APP: (His677Arg; H6R;English APP) (Val715Ala; German APP) (Val717Ile; London APP)
PSEN1: (Intron4; InsTAC) (Tyr115Cys) (Met146Ile) (Leu153Val) (Tyr154Cys) (ΔI167;ΔI168) (Leu171Pro) (Glu184Asp) (Ile229Phe) (Leu235Val) (Phe237Leu) (Ala260Val) (Cys263Phe) (Arg269His) (Arg377Met) (Gly378Val)

ID: 149

Janssen JC, Beck JA, Campbell TA et al. Early onset familial Alzheimer's disease: mutation... Neurobiology of Aging 23 (1S): S311, 2002

Mutations

APP: (Val715Ala; German APP) (Val717Ile; London APP)
PSEN1: (Intron4; InsTAC) (Tyr115Cys) (Met146Ile) (Leu153Val) (Tyr154Cys) (ΔI167;ΔI168) (Leu171Pro) (Glu184Asp) (Ile229Phe) (Leu235Val) (Phe237Leu) (Ala260Val) (Cys263Phe) (Arg269His) (Arg377Met) (Gly378Val)

ID: 132

Janssen JC, Warrington EK, Morris HR et al. Clinical features of frontotemporal dementia due t... Neurology 58: 1161-1168, 2002 (PubMed ID: 11971081)

Mutations

MAPT: (IVS10+16C>T)

ID: 279

Janssen JC, Lantos PL, Fox NC et al. Autopsy-confirmed familial early-onset Alzheimer d... Archives of Neurology 58: 953-958, 2001 (PubMed ID: 11405810)

Mutations

PSEN1: (Leu153Val)

ID: 120

Jia J, Xu E, Shao Y et al. One novel presenilin-1 gene mutation in a Chinese... Journal of Alzheimer's Disease 7: 119-124, 2005 (PubMed ID: 15851849)

Mutations

PSEN1: (Val97Leu)

ID: 387

Jiang HY, Li GD, Dai SX et al. Identification of PSEN1 mutations p.M233L and p.R3... Neurobiology of Aging 36: 1602.e3-6, 2015 (PubMed ID: 25595498)

Mutations

PSEN1: (Met233Leu) (Arg352Cys)

ID: 710

Jiao B, Tang B, Liu X et al. Mutational analysis in early-onset familial Alzhei... Neurobiology of Aging 35: 1957.e1-6, 2014 (PubMed ID: 24650794)

Mutations

APP: (Val717Ile; London APP)
PSEN1: (Phe105Cys) (ΔI167;ΔI168) (Leu248Pro) (Ala434Thr)

ID: 709

Jiménez Caballero PE, de Diego Boguna C, Martin Correa E et al. A novel presenilin 1 mutation (V261L) associated w... European Journal of Neurology 15: 991-994, 2008 (PubMed ID: 18637955)

Mutations

PSEN1: (Val261Leu)

ID: 535

Jimenez-Escrig A, Rabano A, Guerrero C et al. New V272A presenilin 1 mutation with very early on... European Journal of Neurology 11: 663-669, 2004 (PubMed ID: 15469450)

Mutations

PSEN1: (Val272Ala)

ID: 337

Jimenez-Escrig A. . Personal Communication : , 2002

Mutations

PSEN1: (Val272Ala)

ID: 144

Jimenez-Escrig A, Rabano A, Guerrero C et al. Clinicopathological report of a new (V272A) presen... Neurobiology of Aging 23 (1S): S343, 2002

Mutations

PSEN1: (Val272Ala)

ID: 131

Jin SC, Pastor P, Cooper B et al. Pooled-DNA sequencing identifies novel causative v... Alzheimer's Research & Therapy 4: 34, 2012 (PubMed ID: 22906081)

Mutations

GRN: (Gln257fs)
MAPT: (Gly213Arg) (Val224Gly) (Gln230Arg) (Ala297Val) (Ser318Leu) (Ala152Thr) (Val287Ile)
PSEN1: (Met139Thr) (Leu173Phe) (Leu392Val)

ID: 725

Jones CT, Morris S, Yates CM et al. Mutation in codon 713 of the beta amyloid precurso... Nature Genetics 1: 306-309, 1992 (PubMed ID: 1307241)

Mutations

APP: (Ala713Val)

ID: 159

Jorgensen P, Bus C, Pallisgaard N et al. Familial Alzheimer's disease co-segregates with a... Clinical Genetics 50: 281-286, 1996 (PubMed ID: 9007311)

Mutations

PSEN1: (Met146Ile)

ID: 15

Ju X, Liu W, Li X et al. wo distinct clinical features and cognitive impair... Neurobiology of Aging 38: 216.e1-6, 2016 (PubMed ID: 26639158)

Mutations

TARDBP: (Met337Val) (Ser393Leu)

ID: 743

Kabashi E, Valdmanis PN, Dion P et al. TARDBP mutations in individuals with sporadic and... Nature Genetics 40: 572-574, 2008 (PubMed ID: 18372902)

Mutations

TARDBP: (Ala66) (Ala90Val) (Asp169Gly) (Gly287Ser) (Ala315Thr) (Ala315) (Gly348Cys) (Arg361Ser) (Ala382Thr) (Asn390Asp) (Asn390Ser)

ID: 599

Kaivorinne AL, Krüger J, Udd B et al. Mutations in CHMP2B are not a cause of frontotempo... European Journal of Neurology 17: 1393-1395, 2010 (PubMed ID: 20412296)

Mutations

CHMP2B: (Thr9) (Thr104) (Thr124)

ID: 674

Kaleem M, Zhao A, Hamshere M et al. Identification of a novel valosin-containing prote... Neurodegenerative Diseases 4: 376-381, 2007 (PubMed ID: 17622780)

Mutations

VCP: (Arg95His)

ID: 489

Kamada M, Maruyama H, Tanaka E et al. Screening for TARDBP mutations in Japanese familia... Journal of the Neurological Sciences 284: 69-71, 2009 (PubMed ID: 19411082)

Mutations

TARDBP: (Asn352Ser) (Ala366)

ID: 597

Kamimura K, Tanahashi H, Yamanaka H et al. Familial Alzheimer's disease genes in Japanese. Journal of the Neurological Sciences 160: 76-81, 1998 (PubMed ID: 9804121)

Mutations

PSEN1: (His163Arg) (Arg269His) (Glu273Ala) (Gly384Ala)

ID: 58

Kamino K, Sato S, Sakaki Y et al. Three different mutations of presenilin 1 gene in... Neuroscience Letters 208: 195-198, 1996 (PubMed ID: 8733303)

Mutations

PSEN1: (Val96Phe) (His163Arg) (Ile213Thr)

ID: 4

Kamino K, Orr HT, Payami H et al. Linkage and mutational analysis of familial Alzhei... American Journal of Human Genetics 51: 998-1014, 1992 (PubMed ID: 1415269)

Mutations

APP: (Glu693Gly; Arctic APP)

ID: 101

Karch CM, Ezerskiy L, Redaelli V et al. Missense mutations in progranulin gene associated... Neurobiology of Aging 35: 215.e1-15.e12, 2016 (PubMed ID: 26652843)

Mutations

GRN: (Cys105Tyr) (Ala199Val) (Arg298His)

ID: 742

Kasuga K, Shimohata T, Nishimura A et al. Identification of independent APP locus duplicatio... Journal of Neurology, Neurosurgery and Psychiatry 80: 1050-1052, 2009 (PubMed ID: 19684239)

Mutations

APP: (dupAPP[PED3281]) (dupAPP[PED2945])

ID: 708

Kasuga K, Ohno T, Ishihara T et al. Depression and psychiatric symptoms preceding onse... Journal of Neurology 256: 1351-1353, 2009 (PubMed ID: 19280102)

Mutations

PSEN1: (Leu173Phe)

ID: 586

Kauwe JS, Wang J, Chakraverty S et al. Novel presenilin 1 variant (P117A) causing Alzheim... Neuroscience Letters 438: 257-259, 2008 (PubMed ID: 18479822)

Mutations

PSEN1: (Pro117Ala)

ID: 521

Kauwe JS, Jacquart S, Chakraverty S et al. Extreme cerebrospinal fluid amyloid beta levels id... Annals of Neurology 61: 446-453, 2007 (PubMed ID: 17366635)

Mutations

PSEN1: (Ala79Val)

ID: 531

Kawai J, Sasahara M, Hazama F et al. Pallidonigroluysian degeneration with iron deposit... Acta Neuropathologica 86: 609-616, 1993 (PubMed ID: 8310816)

Mutations

MAPT: (Asn279Lys)

ID: 202

Kelley BJ, Haidar W, Boeve BF et al. Alzheimer disease-like phenotype associated with t... Archives of Neurology 67: 171-177, 2010 (PubMed ID: 20142525)

Mutations

GRN: (Thr52fs)

ID: 673

Kelley BJ, Haidar W, Boeve BF et al. Prominent phenotypic variability associated with m... Neurobiology of Aging 30: 739-751, 2009 (PubMed ID: 17949857)

Mutations

GRN: (Ala9Asp) (IVS2+1G>A) (Thr52fs) (Trp304fs) (Gly333fs) (Thr382fs) (Cys466fs) (Arg493X)

ID: 504

Kerchner GA et al. Novel presenilin-1 Y159F sequence variant associat... Neuroscience Letters 531: 142-144, 2012 (PubMed ID: 23123781)

Mutations

PSEN1: (Tyr159Phe)

ID: 714

Kim EJ, Park YE, Kim DS et al. Inclusion body myopathy with Paget disease of bone... Archives of Neurology 68: 787-796, 2011 (PubMed ID: 21320982)

Mutations

VCP: (Arg155Cys)

ID: 700

Kim G, Ahmadian SS, Peterson M et al. Asymmetric pathology in primary progressive aphasi... Neurology 86: 627-636, 2016 (PubMed ID: 26791154)

Mutations

GRN: (Ser226fs;) (Ala237fs) (Trp304fs) (Arg493X)

ID: 750

Kim HJ, Kim HY, Ki CS et al. Presenilin 1 gene mutation (M139I) in a patient wi... Neurological Sciences 31: 781-783, 2010 (PubMed ID: 20213228)

Mutations

PSEN1: (Met139Ile)

ID: 645

Kim J, Bagyinszky E, Chang YH et al. A novel PSEN1 H163P mutation in a patient with ear... Neuroscience Letters 530: 109-114, 2012 (PubMed ID: 23046926)

Mutations

PSEN1: (His163Pro)

ID: 720

Kimonis VE, Fulchiero E, Vesa J et al. VCP disease associated with myopathy, Paget diseas... Biochimica et Biophysica Acta 1782: 744-748, 2008 (PubMed ID: 18845250)

Mutations

VCP: (Arg95Cys)

ID: 648

Kirby J, Goodall EF, Smith W et al. Broad clinical phenotypes associated with TAR-DNA... Neurogenetics 11: 217-225, 2010 (PubMed ID: 19760257)

Mutations

TARDBP: (Leu27) (Ala66) (Ala90Val) (Ser104) (Lys137) (Gly287Ser) (Ala321Val) (Met337Val) (Gly348Val)

ID: 653

Klunemann HH, Rogaeva E, Neumann M et al. Novel PS1 mutation in a Bavarian kindred with fami... Alzheimer disease and associated disorders 18: 256-258, 2004 (PubMed ID: 15592140)

Mutations

PSEN1: (Leu174Arg)

ID: 373

Knight W, Foster J, Ahsan L et al. An unusual, APPV717G-associated familial Alzheimer... Alzheimer's & Dementia 4 Supp 2: T83, 2008

Mutations

APP: (Val717Gly)

ID: 547

Knight WD, Ahsan RL, Jackson J et al. Pure progressive amnesia and the APPV717G mutation. Alzheimer disease and associated disorders 23: 410-414, 2009 (PubMed ID: 19950418)

Mutations

APP: (Val717Gly)

ID: 681

Knight WD, Kennedy J, Mead S et al. A novel presenilin 1 deletion (p.L166del) associat... European Journal of Neurology 14: 829-831, 2007 (PubMed ID: 17594345)

Mutations

PSEN1: (Leu166del)

ID: 448

Kobayashi K, Kidani T, Ujike H et al. Another phenotype of frontotemporal dementia and p... Journal of Neurology 250: 990-992, 2003 (PubMed ID: 12928922)

Mutations

MAPT: (Ser305Asn)

ID: 229

Kobayashi K, Hayashi M, Kidani T et al. Pick's disease in 2 brothers with S305N mutation:... Clinical Neuropathology 21: 191-193, 2002 (PubMed ID: 12143928)

Mutations

MAPT: (Ser305Asn)

ID: 336

Kobayashi K, Hayashi M, Fukutani Y et al. KP1 expression of ghost Pick bodies, amyloid P-pos... Clinical Neuropathology 18: 240-249, 1999 (PubMed ID: 10505433)

Mutations

MAPT: (Ser305Asn)

ID: 335

Kobayashi K, Hayashi M, Kidani T et al. Pick's disease pathology of a missense mutation of... Dementia and Geriatric Cognitive Disorders 17: 293-297, 2004 (PubMed ID: 15178939)

Mutations

MAPT: (Ser305Asn)

ID: 326

Kobayashi T, Ota S, Tanaka K et al. A novel L266V mutation of the tau gene causes fron... Annals of Neurology 53: 133-137, 2003 (PubMed ID: 12509859)

Mutations

MAPT: (Leu266Val)

ID: 183

Kobayashi T, Mori H, Okuma Y et al. Contrasting genotypes of the tau gene in two pheno... Journal of Neurology 249: 669-67, 2002 (PubMed ID: 12111297)

Mutations

MAPT: (Pro301Leu)

ID: 254

Kodama K, Okada S, Iseki E et al. Familial frontotemporal dementia with a P301L tau... Journal of the Neurological Sciences 176: 57-64, 2000 (PubMed ID: 10865093)

Mutations

MAPT: (Pro301Leu)

ID: 255

Kovacs GG, Murrell JR, Horvath S et al. TARDBP variation associated with frontotemporal de... Movement Disorders 24: 1843-1847, 2009 (PubMed ID: 19609911)

Mutations

TARDBP: (Lys263Glu)

ID: 602

Kovacs GG, Pittman A, Revesz T et al. MAPT S305I mutation: implications for argyrophilic... Acta Neuropathologica 116: 103-118, 2008 (PubMed ID: 18066559)

Mutations

MAPT: (Ser305Ile)

ID: 525

Kowalska A, Pruchnik-Wolinska D, Florczak J et al. Genetic study of familial cases of Alzheimer's dis... Acta Biochimica Polonica 51: 245-252, 2004 (PubMed ID: 15094846)

Mutations

PSEN1: (Ala246Glu) (Pro267Leu) (Leu424Arg)

ID: 321

Kowalska A, Pruchnik-Wolinska D, Florczak J et al. Presenilin 1 mutations in Polish families with ear... Folia Neuropathologica 42: 9-14, 2004 (PubMed ID: 15119739)

Mutations

PSEN1: (Ala246Glu) (Pro267Leu) (Leu424Arg)

ID: 333

Kowalska A, Wender M, Florczak J et al. Molecular genetics of Alzheimer's disease: preseni... Journal of Applied Genetics 44: 231-234, 2003 (PubMed ID: 12817569)

Mutations

PSEN1: (Ala246Glu) (Pro267Leu) (Leu424Arg)

ID: 171

Kowalska A, Hasegawa M, Miyamoto K et al. A novel mutation at position +11 in the intron fol... Journal of Applied Genetics 43: 535-543, 2002 (PubMed ID: 12441638)

Mutations

MAPT: (IVS10+11T>C)

ID: 268

Kowalska A, Asada T, Arima K et al. Genetic analysis in patients with familial and spo... Dementia and Geriatric Cognitive Disorders 12: 387-392, 2001 (PubMed ID: 11598310)

Mutations

MAPT: (Pro176) (EX8 Thr2) (Asn279Lys) (Pro301Leu)

ID: 256

Kozin SA, Kulikova AA, Istrate AN et al. The English (H6R) familial Alzheimer's disease mut... Metallomics 7: 422-425, 2015 (PubMed ID: 25703165)

Mutations

APP: (His677Arg; H6R;English APP)

ID: 741

Krause S, Göhringer T, Walter MC et al. Brain imaging and neuropsychology in late-onset de... Clinical Neuropathology 26: 232-240, 2007 (PubMed ID: 17907600)

Mutations

VCP: (Arg93Cys)

ID: 486

Kühnlein P, Sperfeld AD, Vanmassenhove B et al. Two German kindreds with familial amyotrophic late... Archives of Neurology 65: 1185-1189, 2008 (PubMed ID: 18779421)

Mutations

TARDBP: (Gly348Cys) (Asn352Ser)

ID: 601

Kumar KR, Needham M, Mina K et al. Two Australian families with inclusion-body myopat... Neuromuscular Disorders 20: 330-334, 2010 (PubMed ID: 20335036)

Mutations

VCP: (Arg155Leu) (Leu198Trp)

ID: 677

Kumar-Singh S, Cras P, Wang R et al. Dense-core senile plaques in the Flemish variant o... American Journal of Pathology 161: 507-520, 2002 (PubMed ID: 12163376)

Mutations

APP: (Ala692Gly; Flemish APP)

ID: 174

Kumar-Singh S, De Jonghe C, Cruts M et al. Nonfibrillar diffuse amyloid deposition due to a g... Human Molecular Genetics 9: 2589-2598, 2000 (PubMed ID: 11063718)

Mutations

APP: (Thr714Ile, Austrian APP)

ID: 106

Kwiatkowski TJ Jr, Bosco DA, Leclerc AL et al. Mutations in the FUS/TLS gene on chromosome 16 cau... Science 323: 1205-1208, 2009 (PubMed ID: 19251627)

Mutations

FUS: (Gly174_Gly175del; delGG) (Gly175_Gly176ins; insGG) (Arg244Cys) (Arg514Ser,Gly515Cys) (His517Gln) (Arg518Lys) (Arg521Gly) (Arg521Cys) (Arg521His) (Arg522Gly) (Arg524Thr) (Arg524Ser) (Pro525Leu)

ID: 628

Kwok JB, Halliday GM, Brooks WS et al. Presenilin-1 mutation L271V results in altered exo... Journal of Biological Chemistry 278: 6748-6754, 2003 (PubMed ID: 12493737)

Mutations

PSEN1: (Leu271Val)

ID: 150

Kwok JB, Li QX, Hallupp M et al. Novel Leu723Pro amyloid precursor protein mutation... Annals of Neurology 47: 249-253, 2000 (PubMed ID: 10665499)

Mutations

APP: (Leu723Pro; Australian APP)

ID: 77

Kwok JB, Taddei K, Hallupp M et al. Two novel (M233T and R278T) presenilin-1 mutations... Neuroreport 8: 1537-1542, 1997 (PubMed ID: 9172170)

Mutations

PSEN1: (Met233Thr) (Pro264Leu) (Arg278Thr) (Glu280Ala) (Δ9) (Δ9)

ID: 25

Kwok JBJ, Smith MJ, Brooks WS et al. Variable presentation of Alzheimer's disease and /... Neurobiology of Aging 21 Supp1: S25, 2000

Mutations

PSEN1: (Δ9) (Δ9) (Δ9)

ID: 99

Kwok JBJ, Li Q-X, Hallupp M et al. Novel familial early-onset Alzheimer's disease mut... Neurobiology of Aging 19 Supp4: S91, 1998

Mutations

APP: (Leu723Pro; Australian APP)

ID: 53

La Bella V, Liguori M, Cittadella R et al. A novel mutation (Thr116Ile) in the presenilin 1 g... European Journal of Neurology 11: 521-524, 2004 (PubMed ID: 15272895)

Mutations

PSEN1: (Thr116Ile)

ID: 320

Lanska DJ, Currier RD, Cohen M et al. Familial progressive subcortical gliosis. Neurology 44: 1633-1643, 1994 (PubMed ID: 7936288)

Mutations

MAPT: (IVS10+16C>T)

ID: 280

Lantos PL, Cairns NJ, Khan MN et al. Neuropathologic variation in frontotemporal dement... Neurology 58: 1169-1175, 2002 (PubMed ID: 11971082)

Mutations

MAPT: (IVS10+16C>T)

ID: 281

Lao JI, Beyer K, Fernandez-Novoa L et al. A novel mutation in the predicted TM2 domain of th... Neurogenetics 1: 293-296, 1998 (PubMed ID: 10732806)

Mutations

PSEN2: (Val148Ile)

ID: 91

Larner AJ. Intrafamilial clinical phenotypic heterogeneity wi... Journal of Neurological Sciences 287: 253-256, 2009 (PubMed ID: 19766248)

Mutations

MAPT: (IVS10+16C>T)

ID: 656

Larner AJ. Mutation negative "early-onset familial Alzheimer... Alzheimer Disease and Associated Disorders 22: 194-195, 2008 (PubMed ID: 18525295)

Mutations

MAPT: (IVS10+16C>T)

ID: 562

Larner AJ, Ray PS, Doran M. The R269H mutation in presenilin-1 presenting as l... Journal of the Neurological Sciences 252: 173-176, 2007 (PubMed ID: 17188713)

Mutations

PSEN1: (Arg269His)

ID: 429

Larner AJ, Ray PS, Doran M. Late-onset autosomal dominant Alzheimer's disease... Journal of Neurology 253 Suppl 2: ii37, 2006 (PubMed ID: 16710641)

Mutations

PSEN1: (Arg269His)

ID: 409

Larner AJ et al. Early-onset Alzheimer's disease with presenilin-1... European Journal of Neurology 10: 319-323, 2003 (PubMed ID: 12752408)

Mutations

PSEN1: (Met139Val)

ID: 170

Le Ber I, De Septenville A, Millecamps S et al. TBK1 mutation frequencies in French frontotemporal... Neurobiology of Aging 36: 3116.e5-8, 2015 (PubMed ID: 26476236)

Mutations

TBK1: (Thr4Ala) (Gly26Glu) (Arg143Cys) (Thr156fs) (Thr320Ile) (Arg440X) (Tyr482X) (Leu654fs) (Gln655X) (Met662Thr)

ID: 748

Le Ber I, Camuzat A, Hannequin D et al. Phenotype variability in progranulin mutation carr... Brain 131: 732-746, 2008 (PubMed ID: 18245784)

Mutations

GRN: (Met1) (Trp7Arg) (Arg110X) (Asn118fs) (Val121fs) (Pro127fs) (Gln130fs) (Ala155fs) (Cys157fs) (Val200fs; IVS7+1G>A) (Cys253X) (Thr272fs) (Cys314X) (Cys366fs) (Gln401X) (Ala412fs) (Glu498fs)

ID: 501

Le Ber I, van der Zee J, Hannequin D et al. Progranulin null mutations in both sporadic and fa... Human Mutation 28: 846-855, 2007 (PubMed ID: 17436289)

Mutations

GRN: (IVS1+3A>T) (Asp33) (Pro34) (Val121fs) (Gln130fs) (Cys157fs) (Val200fs; IVS7+1G>A) (Pro248Leu) (Ser258Asn) (Cys314X) (Cys366fs) (Gln401X) (Ala412fs) (Arg418Gln) (Arg432Cys) (Cys565)

ID: 438

Lee JH, Kahn A, Cheng R et al. Disease-related mutations among Caribbean Hispanic... Molecular Genetics & Genomic Medicine 5: 430-437, 2014 (PubMed ID: 25333068)

Mutations

APP: (Val340Met) (Ser614Gly)
GRN: (Cys222Tyr) (Val519Met)
PSEN1: (Gly206Ala) (Glu318Gly)
PSEN2: (Ile235Phe) (Pro334Ala) (Ala377Val)

ID: 737

Lee P, Medina L, Ringman JM. The Thr354Ile substitution in PSEN1:: disease-caus... Neurology 66: 1955-1956, 2006 (PubMed ID: 16801675)

Mutations

PSEN1: (Thr354Ile) (Ala431Glu)

ID: 389

Lendon CL, Martinez A, Behrens IM et al. E280A PS-1 mutation causes Alzheimer's disease but... Human Mutation 10: 186-195, 1997 (PubMed ID: 9298817)

Mutations

PSEN1: (Glu280Ala)

ID: 79

Levchenko A, Robitaille Y, Strong MJ et al. TAU mutations are not a predominant cause of front... The Canadian Journal of Neurological Sciences 31: 363-367, 2004 (PubMed ID: 15376481)

Mutations

MAPT: (Pro176) (Ala227) (Asn255) (Pro270) (IVS10+29G>A)

ID: 328

Leverenz JB, Yu CE, Montine TJ et al. A novel progranulin mutation associated with varia... Brain 130: 1360-1374, 2007 (PubMed ID: 17439980)

Mutations

GRN: (Ala237fs)

ID: 439

Levy E, Carman MD, Fernandez-Madrid IJ et al. Mutation of the Alzheimer's disease amyloid gene i... Science 248: 1124-1126, 1990 (PubMed ID: 2111584)

Mutations

APP: (Glu693Gln; Dutch APP)

ID: 136

Levy-Lahad E, Wasco W, Poorkaj P et al. Candidate gene for the chromosome 1 familial Alzhe... Science 269: 973-977, 1995 (PubMed ID: 7638622)

Mutations

PSEN2: (Asn141Ile; Volga-German)

ID: 35

Li D, Parks SB, Kushner JD et al. Mutations of presenilin genes in dilated cardiomyo... American Journal of Human Genetics 79: 1030-1039, 2006 (PubMed ID: 17186461)

Mutations

PSEN1: (Asp333Gly)
PSEN2: (Ser130Leu)

ID: 647

Lindquist S, Schwartz M, Batbayli M et al. Genetic testing in familial AD and FTD: Mutation a... Clinical Genetics 76: 205-209, 2009 (PubMed ID: 19659892)

Mutations

APP: (Thr714Ala, Iranian APP)
GRN: (Thr52fs) (Trp386X)
MAPT: (IVS10+29G>A) (Arg406Trp)
PSEN1: (Glu120Lys) (Met146Ile) (Glu318Gly)
PSEN2: (Val393Met)

ID: 621

Lindquist SG, Hasholt L, Bahl JM et al. A novel presenilin 2 mutation (V393M) in early-ons... European Journal of Neurology 15: 1135-1139, 2008 (PubMed ID: 18727676)

Mutations

PSEN2: (Val393Met)

ID: 541

Lindquist SG, Holm IE, Schwartz M et al. Alzheimer disease-like clinical phenotype in a fam... Alzheimer's & Dementia 4 Supp 2: T604, 2008

Mutations

MAPT: (Arg406Trp)

ID: 551

Lindquist SG, Braedgaard H, Svenstrup K et al. Frontotemporal dementia linked to chromosome 3 (FT... European Journal of Neurology 15: 667-670, 2008 (PubMed ID: 18484988)

Mutations

CHMP2B: (Danish CHMP2B)

ID: 572

Lindquist SG, Nielsen JE, Stokholm J et al. Atypical early-onset Alzheimer's disease caused by... Journal of the Neurological Sciences 268: 124-130, 2008 (PubMed ID: 18187157)

Mutations

APP: (Thr714Ala, Iranian APP)

ID: 623

Lindquist SG, Holm IE, Schwartz M et al. Alzheimer disease-like clinical phenotype in a fam... European Journal of Neurology 15: 377-385, 2008 (PubMed ID: 18284428)

Mutations

MAPT: (Arg406Trp)

ID: 510

Lippa CF, Zhukareva V, Kawarai T et al. Frontotemporal dementia with novel tau pathology a... Annals of Neurology 48: 850-858, 2000 (PubMed ID: 11117541)

Mutations

MAPT: (Glu342Val)

ID: 237

Lladó A, Fortea J, Ojea T et al. A novel PSEN1 mutation (K239N) associated with Alz... European Journal of Neurology 17: 994-996, 2010 (PubMed ID: 20158511)

Mutations

PSEN1: (Lys239Asn)

ID: 671

Lladó A, Sánchez-Valle R, Rey MJ et al. New mutation in the PSEN1 (E120G) gene associated... Neurologia 25: 13-16, 2010 (PubMed ID: 20388456)

Mutations

PSEN1: (Glu120Gly)

ID: 676

Lladó A, Sánchez-Valle R, Rey MJ et al. Clinicopathological and genetic correlates of fron... Journal of Neurology 255: 488-494, 2008 (PubMed ID: 18357425)

Mutations

MAPT: (Pro301Leu)

ID: 524

Lladó A, Sanchez-Valle R, Rene R et al. Late-onset frontotemporal dementia associated with... Journal of Neural Transmission 114: 1051-1054, 2007 (PubMed ID: 17417739)

Mutations

GRN: (Trp304fs)

ID: 440

Lladó A, Ezquerra M, Sánchez-Valle R et al. A novel MAPT mutation (P301T) associated with fami... European Journal of Neurology 14: e9-e10, 2007 (PubMed ID: 17662000)

Mutations

MAPT: (Pro301Thr)

ID: 464

Lladó A, Ezquerra M, Rey MJ et al. Genetic and clinicopathological correlation of fro... Journal of Neurology 253 Suppl 2: ii40, 2006 (PubMed ID: 16710641)

Mutations

MAPT: (Pro301Leu)

ID: 410

Lleo A, Blesa R, Queralt R et al. Frequency of mutations in the presenilin and amylo... Archives of Neurology 59: 1759-1763, 2002 (PubMed ID: 12433263)

Mutations

PSEN1: (Val89Leu) (Met139Thr) (His163Arg) (Leu166Arg) (Ser169Pro)
PSEN2: (Pro334Arg) (Thr430Met) (Asp439Ala)

ID: 152

Lleo A, Castellvi M, Blesa R et al. Uncommon polymorphism in the presenilin genes in h... Neuroscience Letters 318: 166-168, 2002 (PubMed ID: 11803125)

Mutations

PSEN2: (Pro334Arg)

ID: 151

Lleo A, Blesa R, Gendre J et al. A novel presenilin 2 gene mutation (D439A) in a pa... Neurology 57: 1926-1928, 2001 (PubMed ID: 11723295)

Mutations

PSEN2: (Asp439Ala)

ID: 118

Lohmann E, Guerreiro RJ, Erginel-Unaltuna N et al. Identification of PSEN1 and PSEN2 gene mutations a... Neurobiology of Aging 33: 1850.e17-27, 2012 (PubMed ID: 22503161)

Mutations

PSEN1: (Leu134Arg) (His163Arg) (His214Tyr) (Leu262Val) (Pro264Leu) (Ala396Thr)
PSEN2: (Arg62His) (Arg71Trp) (Ser130Leu) (Met174Val)

ID: 726

López de Munain A, Alzualde A, Gorostidi A et al. Mutations in Progranulin Gene: Clinical, Pathologi... Biological Psychiatry 63: 946-952, 2008 (PubMed ID: 17950702)

Mutations

GRN: (Val5Leu) (Arg177His) (Ala237fs) (Pro357fs)
MAPT: (Pro301Leu)

ID: 500

Lossos A, Reches A, Gal A et al. Frontotemporal dementia and parkinsonism with the... Journal of Neurology 250: 733-740, 2003 (PubMed ID: 12796837)

Mutations

MAPT: (Pro301Ser)

ID: 221

Luedecke D, Becktepe JS, Lehmbeck JT et al. A novel presenilin 1 mutation (Ala275Val) as cause... Neuroscience Letters 566: 115-119, 2014 (PubMed ID: 24582897)

Mutations

PSEN1: (Ala275Val)

ID: 713

Luquin N, Yu B, Saunderson RB et al. Genetic variants in the promoter of TARDBP in spor... Neuromuscular Disorders 19: 696-700, 2009 (PubMed ID: 19695877)

Mutations

TARDBP: (Asn12) (Ala66) (Gly294Ala)

ID: 617

Lynch T, Sano M, Marder KS et al. Clinical characteristics of a family with chromoso... Neurology 44: 1878-1884, 1994 (PubMed ID: 7936241)

Mutations

MAPT: (IVS10+14C>T)

ID: 272

Malkani R, D'Souza I, Gwinn-Hardy K et al. A MAPT mutation in a regulatory element upstream o... Neurobiology of Disease 22: 401-403, 2006 (PubMed ID: 16503405)

Mutations

MAPT: (IVS9-10G>T;g(-10)t)

ID: 436

Marcon G, Di Fede G, Giaccone G et al. A novel Italian presenilin 2 gene mutation with pr... Journal of Alzheimer's Disease 16: 509-511, 2009 (PubMed ID: 19276543)

Mutations

PSEN2: (Tyr231Cys)

ID: 584

Marcon G, Giaccone g, DiFede G et al. A novel missense mutation in Psen2 gene associated... Alzheimer's & Dementia 4 Supp 2: T590, 2008

Mutations

PSEN2: (Tyr231Cys)

ID: 555

Marcon G, Giaccone G, Cupidi C et al. Neuropathological and clinical phenotype of an Ita... Journal of Neuropathology and Experimental Neurology 63: 199-209, 2004 (PubMed ID: 15055444)

Mutations

PSEN2: (Met239Val)

ID: 345

Marrosu MG, Floris G, Costa G et al. Dementia, pyramidal system involvement, and leukoe... Neurology 66: 108-111, 2006 (PubMed ID: 16401857)

Mutations

PSEN1: (Pro284Ser)

ID: 425

Martikainen P, Pikkarainen M, Pöntynen K et al. Brain pathology in three subjects from the same pe... Neuropathology and Applied Neurobiology 36: 41-54, 2010 (PubMed ID: 19849793)

Mutations

PSEN1: (Pro264Leu)

ID: 666

Masellis M, Momeni P, Meschino W et al. Novel splicing mutation in the progranulin gene ca... Brain 129: 3115-3123, 2006 (PubMed ID: 17030534)

Mutations

GRN: (Val200fs; IVS7+1G>A)

ID: 417

Matsubara-Tsutsui M, Yasuda M, Yamagata H et al. Molecular evidence of presenilin 1 mutation in fam... American Journal of Medical Genetics 114: 292-298, 2002 (PubMed ID: 11920851)

Mutations

PSEN1: (Gly266Ser)

ID: 560

Matsumura Y, Kitamura E, Miyoshi K et al. Japanese siblings with missense mutation (717Val->... Neurology 46: 1721-1723, 1996 (PubMed ID: 8649577)

Mutations

APP: (Val717Ile; London APP)

ID: 47

Matsushita S, Arai H, Okamura N et al. Clinical and biomarker investigation of a patient... Biological Psychiatry 52: 907-910, 2002 (PubMed ID: 12399144)

Mutations

PSEN1: (Ala431Val)

ID: 145

Mattila KM, Forsell C, Pirttila T et al. The Glu318Gly mutation of the presenilin-1 gene do... Annals of Neurology 44: 965-967, 1998 (PubMed ID: 9851443)

Mutations

PSEN1: (Glu318Gly)

ID: 162

McNaughton D, Knight W, Guerreiro R et al. Duplication of amyloid precursor protein (APP), bu... Neurobiology of Aging 33: 426.e13-e21, 2012 (PubMed ID: 21193246)

Mutations

APP: (dupAPP[3]) (dupAPP[2]) (dupAPP[1]) (dupAPP[4]) (dupAPP[5])

ID: 704

McRae CA, Diem G, Yamazaki TG et al. Interest in genetic testing in pallido-ponto-nigra... European Journal of Neurology 8: 179-183, 2001 (PubMed ID: 11284997)

Mutations

MAPT: (Asn279Lys)

ID: 210

Mehrabian S, Traykov LT, Jordanova A et al. Novel PSEN1 gene mutation in a large Bulgarian ped... European Journal of Neurology 13 Supp 2: 41, 2006

Mutations

PSEN1: (Leu424Phe)

ID: 558

Mehrabian S, Traykov LD, Jordanova AK et al. Myoclonus as an atypical phenotype in familial ear... Epilepsia 46 Supp 6: 283, 2005

Mutations

PSEN1: (Leu250Val)

ID: 375

Mehrabian S, Traykov L, Rademakers R et al. A novel PSEN1 mutation in an EOAD family with spas... European Journal of Neurology 11 Supp 2: 16, 2004

Mutations

PSEN1: (Leu381Val)

ID: 374

Mendez MF et al. Frontotemporal dementia-like phenotypes associated... American Journal of Alzheimer's Disease & Other Dementias 21: 281-286, 2006 (PubMed ID: 16948293)

Mutations

PSEN1: (Met233Leu)

ID: 450

Mesulam M, Johnson N, Krefft TA et al. Progranulin mutations in primary progressive aphas... Archives of Neurology 64: 43-47, 2007 (PubMed ID: 17210807)

Mutations

GRN: (Gly333fs) (Arg493X)

ID: 423

Miklossy J, Taddei K, Suva D et al. Two novel presenilin-1 mutations (Y256S and Q222H)... Neurobiology of Aging 24: 655-662, 2003 (PubMed ID: 12885573)

Mutations

PSEN1: (Gln222His) (Tyr256Ser)

ID: 172

Miravalle L, Murrell JR, Takao M et al. Genetic mutations associated with presenile dement... Neurobiology of Aging 23 (1S): S322, 2002

Mutations

PSEN1: (Ala79Val) (Ile143Thr) (Leu166Pro) (Ser169Leu) (Gly217Asp) (Val261Phe) (Pro264Leu) (Ala431Glu)

ID: 125

Mirra SS, Murrell JR, Gearing M et al. Tau pathology in a family with dementia and a P301... Journal of Neuropathology and Experimental Neurology 58: 335-345, 1999 (PubMed ID: 10218629)

Mutations

MAPT: (Pro301Leu)

ID: 257

Miyamoto K, Kowalska A, Hasegawa M et al. Familial frontotemporal dementia and parkinsonism... Annals of Neurology 50: 117-120, 2001 (PubMed ID: 11456301)

Mutations

MAPT: (Pro301) (IVS10+11T>C)

ID: 269

Miyasaka T, Morishima-Kawashima M, Ravid R et al. Molecular analysis of mutant and wild-type tau dep... American Journal of Pathology 158: 373-379, 2001 (PubMed ID: 11159174)

Mutations

MAPT: (Arg406Trp)

ID: 243

Moehlmann T, Winkler E, Xia X et al. Presenilin-1 mutations of leucine 166 equally affe... Proceedings of the National Academy of Sciences USA 99: 8025-8030, 2002 (PubMed ID: 12048239)

Mutations

PSEN1: (Leu166Pro)

ID: 140

Momeni P, Pittman A, Lashley T et al. Clinical and pathological features of an Alzheimer... Neurobiology of Aging 30: 388-393, 2009 (PubMed ID: 17723255)

Mutations

MAPT: (ΔK280;ΔK281)

ID: 460

Momeni P, Rogaeva E, Van Deerlin V et al. Genetic variability in CHMP2B and frontotemporal d... Neurodegenerative Diseases 3: 129-133, 2006 (PubMed ID: 16954699)

Mutations

CHMP2B: (Thr9) (Thr104) (Thr124) (Arg186X;Afrikaner CHMP2B)

ID: 467

Morelli L, Prat MI, Levy E et al. Presenilin 1 Met146Leu variant due to an A --> T t... Clinical Genetics 53: 469-473, 1998 (PubMed ID: 9712537)

Mutations

PSEN1: (Met146Leu)

ID: 75

Moreno F, Indakoetxea B, Barandiaran M et al. "Frontotemporoparietal" dementia: clinical phenoty... Neurology 73: 1367-1374, 2009 (PubMed ID: 19858458)

Mutations

GRN: (Ala237fs)

ID: 637

Moretti P, Lieberman AP, Wilde EA et al. Novel insertional presenilin 1 mutation causing Al... Neurology 62: 1865-1868, 2004 (PubMed ID: 15159497)

Mutations

PSEN1: (InsFI)

ID: 318

Morris HR, Osaki Y, Holton J et al. Tau exon 10 +16 mutation FTDP-17 presenting clinic... Neurology 61: 102-104, 2003 (PubMed ID: 12847166)

Mutations

MAPT: (IVS10+16C>T)

ID: 282

Morris HR, Khan MN, Janssen JC et al. The genetic and pathological classification of fam... Archives of Neurology 58: 1813-1816, 2001 (PubMed ID: 11708988)

Mutations

MAPT: (Pro301Ser) (IVS10+14C>T) (IVS10+16C>T)

ID: 222

Mukherjee O, Wang J, Gitcho M et al. Molecular characterization of novel progranulin (G... Human Mutation 29: 512-521, 2008 (PubMed ID: 18183624)

Mutations

GRN: (Ala9Asp) (Asp33) (Ala237fs) (Arg433Gln)

ID: 502

Mukherjee O, Pastor P, Cairns NJ et al. HDDD2 is a familial frontotemporal lobar degenerat... Annals of Neurology 60: 314-322, 2006 (PubMed ID: 16983685)

Mutations

GRN: (Ala9Asp)

ID: 413

Mullan M, Crawford F, Axelman K et al. A pathogenic mutation for probable Alzheimer's dis... Nature Genetics 1: 345-347, 1992 (PubMed ID: 1302033)

Mutations

APP: (APPKM670/671NL; Swedish APP)

ID: 37

Müller U, Winter P, Bolender C et al. Previously unrecognized missense mutation E126K of... Journal of Alzheimer's Disease 42: 109-113, 2014 (PubMed ID: 24844686)

Mutations

PSEN2: (Glu126Lys)

ID: 731

Munoz DG, Ros R, Fatas M et al. Progressive Nonfluent Aphasia Associated With a Ne... American Journal of Alzheimer's Disease & Other Dementias 22: 294-299, 2007 (PubMed ID: 17712160)

Mutations

MAPT: (Val363Ile)

ID: 461

Murrell J, Ghetti B, Cochran E et al. The A431E mutation in PSEN1 causing Familial Alzhe... Neurogenetics 7: 277-279, 2006 (PubMed ID: 16897084)

Mutations

PSEN1: (Ala431Glu)

ID: 384

Murrell J, Farlow M, Ghetti B et al. A mutation in the amyloid precursor protein associ... Science 254: 97-99, 1991 (PubMed ID: 1925564)

Mutations

APP: (Val717Phe;Indiana)

ID: 52

Murrell JR, Hake AM, Quaid KA et al. Early-onset Alzheimer disease caused by a new muta... Archives of Neurology 57: 885-887, 2000 (PubMed ID: 10867787)

Mutations

APP: (Val717Leu;Indiana-2)

ID: 87

Murrell JR, Spillantini MG, Zolo P et al. Tau gene mutation G389R causes a tauopathy with ab... Journal of Neuropathology and Experimental Neurology 58: 1207-1226, 1999 (PubMed ID: 10604746)

Mutations

MAPT: (Gly389Arg)

ID: 242

Murrell JR, Koller D, Foroud T et al. Familial multiple-system tauopathy with presenile... American Journal of Human Genetics 61: 1131-1138, 1997 (PubMed ID: 9345089)

Mutations

MAPT: (IVS10+3G>A)

ID: 264

Naruse S, Igarashi S, Kobayashi H et al. Mis-sense mutation Val -> Ile in exon 17 of amyloi... The Lancet 337: 978-979, 1991 (PubMed ID: 1678058)

Mutations

APP: (Val717Ile; London APP)

ID: 42

Nasreddine ZS, Loginov M, Clark LN et al. From genotype to phenotype: a clinical pathologica... Annals of Neurology 45: 704-715, 1999 (PubMed ID: 10360762)

Mutations

MAPT: (Pro301Leu)

ID: 258

Neumann M, Mittelbronn M, Simon P et al. A New family with frontotemporal dementia with int... Neuropathology and Applied Neurobiology 31: 362-373, 2005 (PubMed ID: 16008820)

Mutations

MAPT: (IVS10+3G>A)

ID: 358

Neumann M, Diekmann S, Bertsch U et al. Novel G335V mutation in the tau gene associated wi... Neurogenetics 6: 91-95, 2005 (PubMed ID: 15765246)

Mutations

MAPT: (Gly335Val)

ID: 360

Neumann M, Schulz-Schaeffer W, Crowther RA et al. Pick's disease associated with the novel Tau gene... Annals of Neurology 50: 503-513, 2001 (PubMed ID: 11601501)

Mutations

MAPT: (Lys369Ile)

ID: 240

Nicholl DJ, Greenstone MA, Clarke CE et al. An English kindred with a novel recessive tauopath... Annals of Neurology 54: 682-686, 2003 (PubMed ID: 14595660)

Mutations

MAPT: (Ser352Leu)

ID: 239

Nilsberth C, Westlind-Danielsson A, Eckman CB et al. The 'Arctic' APP mutation (E693G) causes Alzheimer... Nature Neuroscience 4: 887-893, 2001 (PubMed ID: 11528419)

Mutations

APP: (Glu693Gly; Arctic APP)

ID: 113

Nilsberth C, Westlind-Danielsson A, Eckman CB et al. The Arctic APP mutation (E693G) causes Alzheimer's... Neurobiology of Aging 21 Supp1: S58, 2000

Mutations

APP: (Glu693Gly; Arctic APP)

ID: 97

Niu F, Yu S, Zhang Z et al. Novel mutation in the PSEN2 gene (N141Y) associate... Neurobiology of Aging 35: 2420.e1-5, 2014 (PubMed ID: 24838186)

Mutations

PSEN2: (Asn141Tyr)

ID: 732

Norton JB, Cairns NJ, Chakraverty S et al. Presenilin1 G217R mutation linked to Alzheimer dis... Neurology 73: 480-482, 2009 (PubMed ID: 19667325)

Mutations

PSEN1: (Gly217Arg)

ID: 650

Nuytemans K, Pals P, Sleegers K et al. Progranulin variability has no major role in Parki... Neurology 71: 1147-1151, 2008 (PubMed ID: 18838661)

Mutations

GRN: (Asp33Glu) (Ala324Thr) (Arg433Trp) (Val514Met)

ID: 559

Nygaard HB, Lippa CF, Mehdi D et al. A Novel Presenilin 1 Mutation in Early-Onset Alzhe... American Journal of Alzheimer's Disease & Other Dementias 29: 433-435, 2014 (PubMed ID: 24463146)

Mutations

PSEN1: (Asp40del)

ID: 728

Obici L, Demarchi A, de Rosa G et al. A novel AβPP mutation exclusively associated... Annals of Neurology 58: 639-644, 2005

Mutations

APP: (Leu705Val)

ID: 365

Oliva R et al. Tau gene delN296 mutation, Parkinson's disease, an... Annals of Neurology 55: 448-449, 2004 (PubMed ID: 14991828)

Mutations

MAPT: (ΔN296)

ID: 351

O'Riordan S, McMonagle P, Janssen JC et al. Presenilin-1 mutation (E280G), spastic paraparesis... Neurology 59: 1108-1110, 2002 (PubMed ID: 12370477)

Mutations

PSEN1: (Glu280Gly)

ID: 146

Orrù S, Manolakos E, Orrù N et al. High frequency of the TARDBP p.Ala382Thr mutation... Clinical Genetics 81: 172-178, 2012 (PubMed ID: 21418058)

Mutations

TARDBP: (Ala382Thr)

ID: 688

Ostojic J, Elfgren C, Passant U et al. The tau R406W mutation causes progressive presenil... Dementia and Geriatric Cognitive Disorders 17: 298-301, 2004 (PubMed ID: 15178940)

Mutations

MAPT: (Arg406Trp)

ID: 323

Palmer MS, Beck JA, Campbell TA et al. Pathogenic presenilin 1 mutations (P436S & I143F)... Human Mutation 13: 256, 1999 (PubMed ID: 10090481)

Mutations

PSEN1: (Met139Val) (Ile143Phe) (Pro267Ser) (Pro436Ser)

ID: 86

Pamphlett R, Luquin N, McLean C et al. TDP-43 neuropathology is similar in sporadic amyot... Neuropathology and Applied Neurobiology 35: 222-225, 2009 (PubMed ID: 18986339)

Mutations

TARDBP: (Gly294Ala)

ID: 618

Pantieri R, Pardini M, Cecconi M et al. A novel presenilin 1 L166H mutation in a pseudo-sp... Neurological Sciences 26: 349-350, 2005 (PubMed ID: 16388371)

Mutations

PSEN1: (Leu166His)

ID: 368

Park HK, Na DL, Lee JH et al. Identification of PSEN1 and APP gene mutations in... Journal of Korean Medical Science 23: 213-217, 2008 (PubMed ID: 18437002)

Mutations

APP: (Val715Met; French APP)
PSEN1: (Gly206Ser) (Met233Thr)

ID: 527

Parkinson N, Ince PG, Smith MO et al. ALS phenotypes with mutations in CHMP2B (charged m... Neurology 67: 1074-1077, 2006 (PubMed ID: 16807408)

Mutations

CHMP2B: (Ile29Val) (Gln206His)

ID: 469

Pasalar P, Najmabadi H, Noorian AR et al. An Iranian family with Alzheimer's disease caused... Neurology 58: 1574-1575, 2002 (PubMed ID: 12034808)

Mutations

APP: (Thr714Ala, Iranian APP)

ID: 123

Passant U, Ostojic J, Froehlich Fabre S et al. Familial presenile dementia with bitemporal atroph... Dementia and Geriatric Cognitive Disorders 17: 287-292, 2004 (PubMed ID: 15178938)

Mutations

MAPT: (Arg406Trp)

ID: 307

Pastor P, Pastor E, Carnero C et al. Familial atypical progressive supranuclear palsy a... Annals of Neurology 49: 263-267, 2001 (PubMed ID: 11220749)

Mutations

MAPT: (ΔN296)

ID: 216

Peacock ML, Murman DL, Sima AA et al. Novel amyloid precursor protein gene mutation (cod... Annals of Neurology 35: 432-438, 1994 (PubMed ID: 8154870)

Mutations

APP: (Glu665Asp)

ID: 157

Peacock ML, Warren JT Jr, Roses AD et al. Novel polymorphism in the A4 region of the amyloid... Neurology 43: 1254-1256, 1993 (PubMed ID: 8170579)

Mutations

APP: (Ala673Thr)

ID: 154

Peacock ML, Warren JT Jr, Murman DL et al. Novel mutation in codon 665 (Glu -> Asp) in the am... Neurology 43 Supp: A317, 1993

Mutations

APP: (Glu665Asp)

ID: 158

Perez-Tur J, Croxton R, Wright K et al. A further presenilin 1 mutation in the exon 8 clus... Neurodegeneration 5: 207-212, 1996 (PubMed ID: 8910898)

Mutations

PSEN1: (Arg269Gly)

ID: 30

Perez-Tur J, Froelich S, Prihar G et al. A mutation in Alzheimer's disease destroying a spl... Neuroreport 7: 297-301, 1995 (PubMed ID: 8742474)

Mutations

PSEN1: (Δ9)

ID: 54

Petersen RB, Tabaton M, Chen SG et al. Familial progressive subcortical gliosis: presence... Neurology 45: 1062-1067, 1995 (PubMed ID: 7783864)

Mutations

MAPT: (IVS10+16C>T)

ID: 283

Piccini A, Zanusso G, Borghi R et al. Association of a presenilin 1 S170F mutation with... Archives of Neurology 64: 738-745, 2007 (PubMed ID: 17502474)

Mutations

PSEN1: (Ser170Phe)

ID: 447

Pickering-Brown S, Baker M, Yen SH et al. Pick's disease is associated with mutations in the... Annals of Neurology 48: 859-867, 2000 (PubMed ID: 11117542)

Mutations

MAPT: (Lys257Thr) (Gly389Arg)

ID: 180

Pickering-Brown SM, Rollinson S, Plessis DD et al. Frequency and clinical characteristics of progranu... Brain 131: 721-731, 2008 (PubMed ID: 18192287)

Mutations

GRN: (Gly168Ser) (Ala324Thr) (Gln415X)

ID: 497

Pickering-Brown SM, Baker M, Gass J et al. Mutations in progranulin explain atypical phenotyp... Brain 129: 3124-3216, 2006 (PubMed ID: 17071927)

Mutations

GRN: (IVS2+1G>A) (IVS11-15_EX12+177del; Δ12; A472fs) (Arg493X)
MAPT: (Ala239Thr) (IVS10+29G>A)
PSEN1: (InsR352)

ID: 419

Pickering-Brown SM, Baker M, Nonaka T et al. Frontotemporal dementia with Pick-type histology a... Brain 127: 1415-1426, 2004 (PubMed ID: 15047590)

Mutations

MAPT: (Gln336Arg)

ID: 315

Pickering-Brown SM, Richardson AM, Snowden JS et al. Inherited frontotemporal dementia in nine British... Brain 125: 732-751, 2002 (PubMed ID: 11912108)

Mutations

MAPT: (Ala239Thr) (IVS10+13A>G) (IVS10+16C>T)

ID: 284

Pietroboni AM, Fumagalli GG, Ghezzi L et al. Phenotypic heterogeneity of the GRN Asp22fs mutati... Journal of Alzheimer's Disease 24: 253-259, 2011 (PubMed ID: 21258152)

Mutations

GRN: (Asp22fs)

ID: 691

Piscopo P, Talarico G, Crestini A et al. A novel mutation in the predicted TMIII domain of... Journal of Alzheimer's Disease 20: 43-47, 2010 (PubMed ID: 20164579)

Mutations

PSEN2: (Ser175Cys)

ID: 686

Piscopo P. . Personal Communication : , 2008

Mutations

PSEN2: (Ser175Cys)

ID: 563

Piscopo P, Talarico G, Spadoni O et al. A novel Italian presenilin 2 mutation (S175Y). Alzheimer's & Dementia 4 Supp 2: T595, 2008

Mutations

PSEN2: (Ser175Cys)

ID: 554

Piscopo P, Marcon G, Piras MR et al. A novel PSEN2 mutation associated with a peculiar... Neurology 70: 1549-1554, 2008 (PubMed ID: 18427071)

Mutations

PSEN2: (Ala85Val)

ID: 516

Piscopo P, Crestini A, Malvezzi-Campeggi L et al. A novel PSEN-2 mutation in a large Italian pedigre... Alzheimer's and Parkinson's Diseases: Insights, Progress and Perspectives. 7th International Conference AD/PD 2005 Book of Abstracts : 24, 2005

Mutations

PSEN2: (Ala85Val)

ID: 458

Poduslo SE, Herring K, Neal M. A presenilin 1 mutation in an early onset Alzheime... Neuroreport 7: 2018-2020, 1996 (PubMed ID: 8905716)

Mutations

PSEN1: (His163Arg)

ID: 23

Poorkaj P, Muma NA, Zhukareva V et al. An R5L tau mutation in a subject with a progressiv... Annals of Neurology 52: 511-516, 2002 (PubMed ID: 12325083)

Mutations

MAPT: (Arg5Leu)

ID: 178

Poorkaj P, Grossman M, Steinbart E et al. Frequency of tau gene mutations in familial and sp... Archives of Neurology 58: 383-387, 2001 (PubMed ID: 11255441)

Mutations

MAPT: (Pro176) (Ala227) (Asn255) (Pro270) (Leu284) (Pro301Leu) (Ser305Asn) (IVS10+16C>T)

ID: 259

Poorkaj P, Bird TD, Wijsman E et al. Tau is a candidate gene for chromosome 17 frontote... Annals of Neurology 43: 815-825, 1998 (PubMed ID: 9629852)

Mutations

MAPT: (Asp285Asn) (Asp285) (Val289Ala) (EX6 His47Tyr) (EX6 Ser53Pro) (Asn255) (Val337Met)

ID: 234

Poorkaj P, Sharma V, Anderson L et al. Missense mutations in the chromosome 14 familial A... Human Mutation 11: 216-221, 1998 (PubMed ID: 9521423)

Mutations

PSEN1: (Glu120Asp) (His163Arg) (Gly209Val) (Ala260Val) (Pro264Leu) (Cys410Tyr) (Ala426Pro)

ID: 8

Portet F, Dauvilliers Y, Campion D et al. Very early onset AD with a de novo mutation in the... Neurology 61: 1136-1137, 2003 (PubMed ID: 14581682)

Mutations

PSEN1: (Met233Ile)

ID: 426

Pottier C, Bieniek KF, Finch N et al. Whole-genome sequencing reveals important role for... Acta Neuropathologica 130: 77-92, 2015 (PubMed ID: 25943890)

Mutations

TBK1: (Arg117X) (Leu306Ile) (Lys401Glu) (Glu696Lys)

ID: 734

Prihar G, Verkkoniem A, Perez-Tur J et al. Alzheimer disease PS-1 exon 9 deletion defined. Nature Medicine 5: 1090, 1999 (PubMed ID: 10502791)

Mutations

PSEN1: (Δ9Finn)

ID: 65

Puschmann A, Ross OA, Vilariño-Güell C et al. A Swedish family with de novo alpha-synuclein A53T... Parkinsonism and Related Disorders 15: 627-632, 2009 (PubMed ID: 19632874)

Mutations

PSEN2: (Arg163His)

ID: 627

Queralt R, Ezquerra M, Lleo A et al. A novel mutation (V89L) in the presenilin 1 gene i... Journal of Neurology, Neurosurgery and Psychiatry 72: 266-269, 2002 (PubMed ID: 11796781)

Mutations

PSEN1: (Val89Leu)

ID: 143

Queralt R, Ezquerra M, Castellvi M et al. Detection of the presenilin 1 gene mutation (M139T... Neuroscience Letters 299: 239-241, 2001 (PubMed ID: 11165779)

Mutations

PSEN1: (Met139Thr)

ID: 109

Rademakers R, Baker M, Gass J et al. Phenotypic variability associated with progranulin... The Lancet Neurology 6: 857-868, 2007 (PubMed ID: 17826340)

Mutations

GRN: (Arg493X)

ID: 474

Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia... Human Mutation 24: 277-295, 2004 (PubMed ID: 15365985)

Mutations

MAPT: (Gln230Arg) (Asp285)

ID: 314

Rademakers R, Dermaut B, Peeters K et al. Tau (MAPT) mutation Arg406Trp presenting clinicall... Human Mutation 22: 409-411, 2003 (PubMed ID: 14517953)

Mutations

MAPT: (Arg406Trp)

ID: 244

Raman A, Lin X, Suri M et al. A presenilin 1 mutation (Arg278Ser) associated wit... Journal of the Neurological Sciences 260: 78-82, 2007 (PubMed ID: 17507029)

Mutations

PSEN1: (Arg278Ser)

ID: 444

Ramirez-Duenas MG, Rogaeva EA, Leal CA et al. A novel Leu171Pro mutation in presenilin-1 gene in... Annals of Genetics 41: 149-153, 1998 (PubMed ID: 9833068)

Mutations

PSEN1: (Leu171Pro)

ID: 59

Raux G, Guyant-Marechal L, Martin C et al. Molecular diagnosis of autosomal dominant early on... Journal of Medical Genetics 42: 793-795, 2005 (PubMed ID: 16033913)

Mutations

APP: (Thr714Ile, Austrian APP) (Val717Ile; London APP)
PSEN1: (Arg35Gln) (Phe105Ile) (Thr116Asn) (Thr116Ile) (Glu120Asp) (Ile143Asn) (Ile143Thr) (Leu153Val) (Phe177Leu) (Gly206Ser) (Gly206Asp) (His214Tyr) (Met233Thr) (Pro264Leu) (Glu280Gly) (Glu318Gly) (Phe386Ser) (Val391Phe) (Leu392Val) (Leu424His)

ID: 376

Raux G, Gantier R, Thomas-Anterion C et al. Dementia with prominent frontotemporal features as... Neurology 55: 1577-1579, 2000 (PubMed ID: 11094121)

Mutations

PSEN1: (Leu113Pro)

ID: 104

Raux G, Gantier R, Martin C et al. A novel presenilin 1 missense mutation (L153V) seg... Human Mutation 16: 95, 2000 (PubMed ID: 10874324)

Mutations

PSEN1: (Leu153Val)

ID: 88

Reed LA, Schmidt ML, Wszolek ZK et al. The neuropathology of a chromosome 17-linked autos... Journal of Neuropathology and Experimental Neurology 57: 588-601, 1998 (PubMed ID: 9630238)

Mutations

MAPT: (Asn279Lys)

ID: 198

Reed LA, Grabowski TJ, Schmidt ML et al. Autosomal dominant dementia with widespread neurof... Annals of Neurology 42: 564-572, 1997

Mutations

MAPT: (Arg406Trp)

ID: 245

Renton AE, Majounie E, Waite A et al. A hexanucleotide repeat expansion in C9ORF72 is th... Neuron 72: 257-268, 2011 (PubMed ID: 21944779)

Mutations

C9orf72: (G4C2 hexanucleotide repeat expansion)

ID: 696

Reznik-Wolf H, Machado J, Haroutunlan V et al. Somatic mutational analyses of the APP and Preseni... Neurobiology of Aging 17 Supp: S14, 1996

Mutations

PSEN1: (Glu120Asp) (His163Arg)

ID: 21

Reznik-Wolf H, Treves TA, Davidson M et al. A novel mutation of presenilin 1 in familial Alzhe... Human Genetics 98: 700-702, 1996 (PubMed ID: 8931704)

Mutations

PSEN1: (Glu120Asp)

ID: 7

Ringman JM, Gylys KH, Medina LD et al. Biochemical, neuropathological, and neuroimaging c... Neuroscience Letters 487: 287-292, 2011 (PubMed ID: 21094210)

Mutations

PSEN1: (Ser212Tyr) (Ile238Met)

ID: 690

Rippon GA, Crook R, Baker M et al. Presenilin 1 mutation in an african american famil... Archives of Neurology 60: 884-888, 2003 (PubMed ID: 12810495)

Mutations

PSEN1: (Met139Val)

ID: 173

Rizzini C, Goedert M, Hodges JR et al. Tau gene mutation K257T causes a tauopathy similar... Journal of Neuropathology and Experimental Neurology 59: 990-1001, 2000 (PubMed ID: 11089577)

Mutations

MAPT: (Lys257Thr)

ID: 179

Rizzu P, Joosse M, Ravid R et al. Mutation-dependent aggregation of tau protein and... Human Molecular Genetics 9: 3075-3082, 2000 (PubMed ID: 11115852)

Mutations

MAPT: (Pro301Leu)

ID: 260

Rizzu P, van Swieten JC, Joosse M et al. High prevalence of mutations in the microtubule-as... American Journal of Human Genetics 64: 414-421, 1999 (PubMed ID: 9973279)

Mutations

MAPT: (Pro176) (Ala227) (Asn255) (Pro270) (Gly272Val) (ΔK280;ΔK281) (Pro301Leu) (Arg406Trp)

ID: 188

Robles A, Sobrido MJ, Garcia-Murias M et al. Clinical Picture of a Patient With a Novel PSEN1 M... American Journal of Alzheimer's Disease & Other Dementias 24: 40-45, 2009 (PubMed ID: 19001354)

Mutations

PSEN1: (Leu424Val)

ID: 568

Rogaev EI, Sherrington R, Rogaeva EA et al. Familial Alzheimer's disease in kindreds with miss... Nature 376: 775-778, 1995 (PubMed ID: 7651536)

Mutations

PSEN1: (Ala260Val) (Ala285Val) (Leu392Val)
PSEN2: (Asn141Ile; Volga-German) (Met239Val)

ID: 27

Rogaeva E, Bergeron C, Sato C et al. PS1 Alzheimer's disease family with spastic parapl... Neurology 61: 1005-1007, 2003 (PubMed ID: 14557582)

Mutations

PSEN1: (Glu280Gly)

ID: 427

Rogaeva EA, Fafel KC, Song YQ et al. Screening for PS1 mutations in a referral-based se... Neurology 57: 621-625, 2001 (PubMed ID: 11524469)

Mutations

PSEN1: (Arg35Gln) (Ala79Val) (Intron4; InsTAC) (Tyr115Cys) (Thr116Asn) (Ile143Thr) (Met146Leu) (Met146Val) (Met146Leu) (Met146Ile) (InsFI) (His163Arg) (Phe177Leu) (Phe177Ser) (Ser178Pro) (Gly206Ser) (Gly206Ala) (Gly209Glu) (Ile213Leu) (Gln222Arg) (Ala231Thr) (Met233Leu) (Leu235Pro) (Val261Phe) (Thr274Arg) (Δ9) (InsR352) (Thr354Ile) (Arg358Gln) (Ser365Tyr) (Gly394Val) (Leu418Phe) (Ala431Glu) (Ala434Cys) (Leu435Phe) (Ile439Val)

ID: 112

Rohrer JD, Ridgway GR, Modat M et al. Distinct profiles of brain atrophy in frontotempor... Neuroimage 53: 1070-1076, 2010 (PubMed ID: 20045477)

Mutations

GRN: (Cys31fs) (Gln130fs) (Ala199Val) (Ser203fs) (Glu498fs)
MAPT: (IVS10+14C>T) (IVS10+16C>T) (Ser320Phe) (Gly389Arg)

ID: 682

Rohrer JD, Crutch SJ, Warrington EK et al. Progranulin-associated primary progressive aphasia... Neuropsychologia 48: 288-297, 2010 (PubMed ID: 19766663)

Mutations

GRN: (Arg493X)

ID: 654

Rohrer JD, Guerreiro R, Vandrovcova J et al. The heritability and genetics of frontotemporal lo... Neurology 73: 1451-1456, 2009 (PubMed ID: 19884572)

Mutations

GRN: (Cys31fs) (Gln300X) (Leu469Phe)
MAPT: (ΔK280;ΔK281) (Asn296) (IVS10+16C>T) (IVS10+19C>G) (Ser320Phe)

ID: 668

Rohrer JD, Warren JD, Omar R et al. Parietal lobe deficits in frontotemporal lobar deg... Archives of Neurology 65: 506-513, 2008 (PubMed ID: 18413474)

Mutations

GRN: (Cys31fs)

ID: 515

Pernaute RS, Fontan A, Ruiz PG et al. Clinical genetics of familial progressive supranuc... Brain 122: 1233-1245, 1999 (PubMed ID: 10388790)

Mutations

MAPT: (Gly303Val)

ID: 361

Roks G, Van Harskamp F, De Koning I et al. Presentation of amyloidosis in carriers of the cod... Brain 123: 2130-2140, 2000 (PubMed ID: 11004129)

Mutations

APP: (Ala692Gly; Flemish APP)

ID: 117

Roks G, Dermaut B, Heutink P et al. Mutation screening of the tau gene in patients wit... Neuroscience Letters 277: 137-139, 1999 (PubMed ID: 10624829)

Mutations

MAPT: (Ala227) (Asn255) (IVS10+25C>T) (IVS10+29G>A)

ID: 298

Romero I, Jorgensen P, Bolwig G et al. A presenilin-1 Thr116Asn substitution in a family... Neuroreport 10: 2255-2260, 1999 (PubMed ID: 10439444)

Mutations

PSEN1: (Thr116Asn)

ID: 94

Thobois S, Streichenberger N, Kopp N et al. A New Mutation of the {tau} Gene, G303V, in Early-... Archives of Neurology 62: 1444-1450, 2005 (PubMed ID: 16157753)

Mutations

MAPT: (Gly303Val)

ID: 362

Rossi G, Marelli C, Farina L et al. The G389R mutation in the MAPT gene presenting as... Movement Disorders 23: 892-895, 2008 (PubMed ID: 18307268)

Mutations

MAPT: (Gly389Arg)

ID: 509

Rossi G, Giaccone G, Maletta R et al. A family with Alzheimer disease and strokes associ... Neurology 63: 910-912, 2004 (PubMed ID: 15365148)

Mutations

APP: (Ala713Thr)

ID: 342

Rossi G, Gasparoli E, Pasquali C et al. Progressive supranuclear palsy and Parkinson's dis... Annals of Neurology 55: 448-448, 2004 (PubMed ID: 14991829)

Mutations

MAPT: (ΔN296)

ID: 350

Rosso SM, Donker KL, Baks T et al. Frontotemporal dementia in The Netherlands: patien... Brain 126: 2016-2022, 2003 (PubMed ID: 12876142)

Mutations

MAPT: (Gly272Val) (ΔK280;ΔK281) (Pro301Leu) (Leu315Arg) (Ser320Phe) (Arg406Trp)

ID: 189

Rosso SM, van Herpen E, Pijnenburg YA et al. Total tau and phosphorylated tau 181 levels in the... Archives of Neurology 60: 1209-1213, 2003 (PubMed ID: 12975285)

Mutations

MAPT: (Gly272Val) (Pro301Leu)

ID: 299

Rosso SM, van Herpen E, Deelen W et al. A novel tau mutation, S320F, causes a tauopathy wi... Annals of Neurology 51: 373-376, 2002 (PubMed ID: 11891833)

Mutations

MAPT: (Ser320Phe)

ID: 230

Rossor MN, Fox NC, Beck J et al. Incomplete penetrance of familial Alzheimer's dise... The Lancet 347: 1560, 1996 (PubMed ID: 8684135)

Mutations

PSEN1: (Ile143Phe)

ID: 14

Rovelet-Lecrux A, Charbonnier C, Wallon D et al. De novo deleterious genetic variations target a b... Molecular Psychiatry 20: 1046-1056, 2015 (PubMed ID: 26194182)

Mutations

APP: (dupAPP[EXT773])
PSEN1: (Δ9)

ID: 753

Rovelet-Lecrux A, Deramecourt V, Legallic S et al. Deletion of the progranulin gene in patients with... Neurobiology of Disease 31: 41-45, 2008 (PubMed ID: 18479928)

Mutations

GRN: (delGRN[French])

ID: 557

Rovelet-Lecrux A, Frebourg T, Tuominen H et al. APP locus duplication in a Finnish family with dem... Journal of Neurology, Neurosurgery and Psychiatry 78: 1158-1159, 2007 (PubMed ID: 17442758)

Mutations

APP: (dupAPP[Finnish])

ID: 451

Rovelet-Lecrux A, Hannequin D, Raux G et al. APP locus duplication causes autosomal dominant ea... Nature Genetics 38: 24-26, 2006 (PubMed ID: 16369530)

Mutations

APP: (dupAPP[F229]) (dupAPP[F037]) (dupAPP[F009]) (dupAPP[F019]) (dupAPP[F028])

ID: 377

Rudzinski LA, Fletcher RM, Dickson DW et al. Early onset familial Alzheimer Disease with spasti... Alzheimer disease and associated disorders 22: 299-307, 2006 (PubMed ID: 18580586)

Mutations

PSEN1: (Asn135Ser)

ID: 553

Rutherford NJ, Zhang YJ, Baker M et al. Novel mutations in TARDBP (TDP-43) in patients wit... PLoS Genetics 4: e1000193, 2008 (PubMed ID: 18802454)

Mutations

TARDBP: (Ala66) (Met337Val) (Asn345Lys) (Ile383Val)

ID: 593

Saito Y, Geyer A, Sasaki R et al. Early-onset, rapidly progressive familial tauopath... Neurology 58: 811-813, 2002 (PubMed ID: 11889249)

Mutations

MAPT: (Arg406Trp)

ID: 247

Sánchez-Valle R, Lladó A, Ezquerra M et al. A novel mutation in the PSEN1 gene (L286P) associa... European Journal of Neurology 14: 1409-1412, 2007 (PubMed ID: 18028191)

Mutations

PSEN1: (Leu286Pro)

ID: 490

Sandbrink R, Zhang D, Schaeffer S et al. Missense mutations of the PS-1/S182 gene in German... Annals of Neurology 40: 265-266, 1996 (PubMed ID: 8773614)

Mutations

PSEN1: (Met139Val) (Glu318Gly)

ID: 12

Sassi C, Guerreiro R, Gibbs R et al. Investigating the role of rare coding variability... Neurobiology of Aging 35: 2881.e1-6, 2014 (PubMed ID: 25104557)

Mutations

APP: (Ala201Val) (Tyr538His) (Val562Ile) (Glu599Lys)
GRN: (Ala324Thr) (Arg432Cys) (Arg433Trp) (Ala582Thr)
MAPT: (Gly200Glu) (Gly213Arg) (Val224Gly) (Gly461fs;Gly144fs)
PSEN1: (Ile168Thr)
PSEN2: (Arg62Cys) (Arg62His) (Ser130Leu) (Ala237Val) (Asp439Ala)

ID: 740

Sassi C, Guerreiro R, Gibbs R et al. Exome sequencing identifies 2 novel presenilin 1 m... Neurobiology of Aging 35: 2422.e13-6, 2014 (PubMed ID: 24880964)

Mutations

APP: (Lys496Gln) (Pro620Leu) (Val717Leu;Indiana-2)
PSEN1: (Intron4; InsTAC) (Leu166Val) (Ser230Arg) (Cys410Tyr)
PSEN2: (Ser130Leu)

ID: 718

Sato S, Kamino K, Miki T et al. Splicing mutation of presenilin-1 gene for early-o... Human Mutation 1 Supp: 91-94, 1998 (PubMed ID: 9452052)

Mutations

PSEN1: (Δ9)

ID: 55

Scacchi R, Gambina G, Moretto G et al. A mutation screening by DHPLC of PSEN1 and APP gen... Neuroscience Letters 418: 282-285, 2007 (PubMed ID: 17412506)

Mutations

PSEN1: (Asn32)

ID: 493

Schenk VW. Re-examination of a family with Pick's disease. Annals of Human Genetics 23: 325-333, 1959 (PubMed ID: 14442619)

Mutations

MAPT: (Gly272Val)

ID: 191

Schlachetzki JC, Schmidtke K, Beckervordersandforth J et al. Frequency of progranulin mutations in a German coh... Journal of Neurology 256: 2043-2051, 2009 (PubMed ID: 19618231)

Mutations

GRN: (Lys259X) (Arg418X)

ID: 614

Schröder R, Watts GD, Mehta SG et al. Mutant valosin-containing protein causes a novel t... Annals of Neurology 57: 457-461, 2005 (PubMed ID: 15732117)

Mutations

VCP: (Arg155Cys)

ID: 480

Schymick J, Yang Y, Andersen P et al. Progranulin mutations and ALS or ALS-FTD phenotype... Journal of Neurology, Neurosurgery and Psychiatry 78: 754-756, 2007 (PubMed ID: 17371905)

Mutations

GRN: (Arg19Trp) (Asp33) (Ser120Tyr) (Val141Ile) (Thr182Met) (Ala324Thr) (Pro392) (Arg433Trp) (Pro458Leu) (Arg556Cys)

ID: 437

Sherrington R, Rogaev EI, Liang Y et al. Cloning of a gene bearing missense mutations in ea... Nature 375: 754-760, 1995 (PubMed ID: 7596406)

Mutations

PSEN1: (Met146Leu) (His163Arg) (Ala246Glu) (Leu286Val) (Cys410Tyr)

ID: 19

Shi Z, Hayashi YK, Mitsuhashi S et al. Characterization of the Asian myopathy patients wi... European Journal of Neurology 19: 501-509, 2012 (PubMed ID: 22040362)

Mutations

VCP: (Arg93Cys) (Arg155Cys) (Arg155His) (Arg191Gln) (Ala439Pro)

ID: 701

Shrimpton AE, Schelper RL, Linke RP et al. A presenilin 1 mutation (L420R) in a family with e... Neuropathology 27: 228-232, 2007 (PubMed ID: 17645236)

Mutations

PSEN1: (Leu420Arg)

ID: 446

Sima AA, Defendini R, Keohane C et al. The neuropathology of chromosome 17-linked dementi... Annals of Neurology 39: 734-743, 1996 (PubMed ID: 8651645)

Mutations

MAPT: (IVS10+14C>T)

ID: 273

Skibinski G, Parkinson NJ, Brown JM et al. Mutations in the endosomal ESCRTIII-complex subuni... Nature Genetics 37: 806-808, 2005 (PubMed ID: 16041373)

Mutations

CHMP2B: (Asp148Tyr) (Danish CHMP2B)

ID: 465

Skoglund L, Brundin R, Olofsson T et al. Frontotemporal dementia in a large Swedish family... Neurogenetics 10: 27-34, 2009 (PubMed ID: 18855025)

Mutations

GRN: (Gly35fs)

ID: 570

Skoglund L, Viitanen M, Kalimo H et al. The tau S305S mutation causes frontotemporal demen... European Journal of Neurology 15: 156-161, 2008 (PubMed ID: 18093153)

Mutations

MAPT: (Ser305)

ID: 494

Skoglund L, Englund E, Ingelsson M et al. Mutation analysis of the progranulin gene in a Sca... Neurodegenerative Diseases 4 Supp 1: 38, 2007

Mutations

GRN: (Leu53Pro)

ID: 455

Sleegers K, Brouwers N, Maurer-Stroh S et al. Progranulin genetic variability contributes to amy... Neurology 71: 253-259, 2008 (PubMed ID: 18184915)

Mutations

GRN: (Asp33) (Arg110Gln) (Ile124Thr) (Asp128) (Thr138) (Thr268) (Ser301) (Ala324Thr) (Arg418Gln) (His447)

ID: 519

Sleegers K, Brouwers N, Gijselinck I et al. APP duplication is sufficient to cause early onset... Brain 129: 2977-2983, 2006 (PubMed ID: 16921174)

Mutations

APP: (dupAPP[1104])

ID: 411

Sleegers K, Roks G, Theuns J et al. Familial clustering and genetic risk for dementia... Brain 127: 1641-1649, 2004 (PubMed ID: 15130954)

Mutations

PSEN2: (Gly34Ser) (Arg62Cys) (Arg62His) (Arg71Trp)

ID: 685

Smith MJ, Kwok JBJ, McLean CA et al. Variable phenotype of Alzheimer's disease with spa... Annals of Neurology 49: 125-129, 2001 (PubMed ID: 11198283)

Mutations

PSEN1: (Δ9)

ID: 108

Smith MJ, Gardner RJ, Knight MA et al. Early-onset Alzheimer's disease caused by a novel... Neuroreport 10: 503-507, 1999 (PubMed ID: 10208579)

Mutations

PSEN1: (Leu219Pro)

ID: 64

Snider BJ, Norton J, Coats MA et al. Novel presenilin 1 mutation (S170F) causing Alzhei... Archives of Neurology 62: 1821-1830, 2005 (PubMed ID: 16344340)

Mutations

PSEN1: (Ser170Phe)

ID: 369

Sobrido MJ, Miller BL, Havlioglu N et al. Novel tau polymorphisms, tau haplotypes, and splic... Archives of Neurology 60: 698-702, 2003 (PubMed ID: 12756133)

Mutations

MAPT: (Pro301Leu)

ID: 261

Sobrido MJ, Abu-Khalil A, Weintraub S et al. Possible association of the tau H1/H1 genotype wit... Neurology 60: 862-864, 2003 (PubMed ID: 12629248)

Mutations

MAPT: (Arg370Trp)

ID: 312

Sodeyama N, Iwata T, Ishikawa K et al. Very early onset Alzheimer's disease with spastic... Journal of Neurology, Neurosurgery and Psychiatry 71: 556-557, 2001 (PubMed ID: 11561050)

Mutations

PSEN1: (Phe237Ile)

ID: 116

Soliveri P, Rossi G, Monza D et al. A case of dementia parkinsonism resembling progres... Archives of Neurology 60: 1454-1456, 2003 (PubMed ID: 14568818)

Mutations

MAPT: (Asn279Lys)

ID: 209

Sorbi S, Tedde A, Nacmias B et al. Novel presenilin 1 and presenilin 2 mutations in e... Neurobiology of Aging 23 (1S): S312, 2002

Mutations

PSEN1: (Cys92Ser) (Leu174Met) (Leu392Pro)
PSEN2: (Ser130Leu)

ID: 124

Sorbi S, Nacmias B, Forleo P et al. Missense mutation of S182 gene in Italian families... The Lancet 346: 439-440, 1995 (PubMed ID: 7623584)

Mutations

PSEN1: (Met146Leu)

ID: 17

Sorbi S, Nacmias B, Forleo P et al. Epistatic effect of APP717 mutation and apolipopro... Annals of Neurology 38: 124-127, 1995 (PubMed ID: 7611715)

Mutations

APP: (Val717Ile; London APP)

ID: 50

Sorbi S, Nacmias B, Forleo P et al. APP717 and Alzheimer's disease in Italy. Nature Genetics 4: 10, 1993 (PubMed ID: 8513318)

Mutations

APP: (Val717Ile; London APP)

ID: 49

Sperfeld AD, Collatz MB, Baier H et al. FTDP-17: an early-onset phenotype with parkinsonis... Annals of Neurology 46: 708-715, 1999 (PubMed ID: 10553987)

Mutations

MAPT: (Pro301Ser)

ID: 223

Spillantini MG, Yoshida H, Rizzini C et al. A novel tau mutation (N296N) in familial dementia... Annals of Neurology 48: 939-943, 2000 (PubMed ID: 11117553)

Mutations

MAPT: (Asn296)

ID: 217

Spillantini MG et al. Tau mutations in familial frontotemporal dementia. Brain 123: 857-859, 2000 (PubMed ID: 10775532)

Mutations

MAPT: (Ser305)

ID: 225

Spillantini MG, Crowther RA, Kamphorst W et al. Tau pathology in two Dutch families with mutations... American Journal of Pathology 153: 1359-1363, 1998 (PubMed ID: 9811325)

Mutations

MAPT: (Gly272Val) (Pro301Leu)

ID: 192

Spillantini MG, Murrell JR, Goedert M et al. Mutation in the tau gene in familial multiple syst... Proceedings of the National Academy of Sciences USA 95: 7737-7741, 1998 (PubMed ID: 9636220)

Mutations

MAPT: (IVS10+3G>A)

ID: 266

Spillantini MG, Goedert M, Crowther RA et al. Familial multiple system tauopathy with presenile... Proceedings of the National Academy of Sciences USA 94: 4113-4118, 1997 (PubMed ID: 9108114)

Mutations

MAPT: (IVS10+3G>A)

ID: 265

Spina S, Murrell JR, Vidal R et al. Neuropathologic and genetic characterization of fr... Alzheimer's & Dementia 4 Supp 2: T431, 2008

Mutations

GRN: (Ala9Asp) (Gln358X) (Cys474fs) (Arg493X)
VCP: (Arg159Cys) (Arg191Gln) (Thr262Ala)

ID: 552

Spina S, Van Laar AD, Murrell JR et al. Neuropathologic and genetic characterization of fr... Alzheimer's & Dementia 4 Supp 2: T141, 2008

Mutations

VCP: (Arg159Cys) (Arg191Gln) (Thr262Ala)

ID: 571

Spina S, Farlow MR, Unverzagt FW et al. The tauopathy associated with mutation +3 in intro... Brain 131: 72-89, 2008 (PubMed ID: 18065436)

Mutations

MAPT: (IVS10+3G>A)

ID: 503

Spina S, Murrell JR, Huey ED et al. Corticobasal syndrome associated with the A9D Prog... Journal of Neuropathology and Experimental Neurology 66: 892-900, 2007 (PubMed ID: 17917583)

Mutations

GRN: (Ala9Asp)

ID: 505

Spina S, Murrell JR, Yoshida H et al. The novel Tau mutation G335S: clinical, neuropatho... Acta neuropathologica 113: 461-470, 2007 (PubMed ID: 17186252)

Mutations

MAPT: (Gly335Ser)

ID: 428

Spina S, Murrell JR, Huey ED et al. Clinicopathologic features of frontotemporal demen... Neurology 68: 820-827, 2007 (PubMed ID: 17202431)

Mutations

GRN: (Ala237fs) (Arg433Trp) (Arg493X)

ID: 433

Sreedharan J, Blair IP, Tripathi VB et al. TDP-43 mutations in familial and sporadic amyotrop... Science 319: 1668-1672, 2008 (PubMed ID: 18309045)

Mutations

TARDBP: (Ala90Val) (Gly294Ala) (Gln331Lys) (Met337Val)

ID: 595

Stanford PM, Brooks WS, Teber ET et al. Frequency of tau mutations in familial and sporadi... Journal of Neurology 251: 1098-1104, 2004 (PubMed ID: 15372253)

Mutations

MAPT: (Gly86Ser) (Pro202Leu) (Asp285Asn) (Asp285) (Val289Ala) (Arg370Trp) (EX6 His47Tyr) (EX6 Ser53Pro) (Pro176) (Ala227) (Asn255) (Pro270) (Pro301Leu) (IVS10+16C>T)

ID: 327

Stanford PM, Shepherd CE, Halliday GM et al. Mutations in the tau gene that cause an increase i... Brain 126: 814-826, 2003 (PubMed ID: 12615641)

Mutations

MAPT: (IVS10+19C>G) (IVS10+29G>A)

ID: 287

Stanford PM, Halliday GM, Brooks WS et al. Progressive supranuclear palsy pathology caused by... Brain 123: 880-893, 2000 (PubMed ID: 10775534)

Mutations

MAPT: (Ser305)

ID: 226

Steinbach P. . Personal Communication : , 2009

Mutations

GRN: (Tyr294X)

ID: 667

Steiner H, Revesz T, Neumann M et al. A pathogenic presenilin-1 deletion causes abberran... Journal of Biological Chemistry 276: 7233-7239, 2001 (PubMed ID: 11084029)

Mutations

PSEN1: (ΔI83/M84)

ID: 107

Stojkovic T, Hammouda el H, Richard P et al. Clinical outcome in 19 French and Spanish patients... Neuromuscular Disorders 19: 316-323, 2009 (PubMed ID: 19364651)

Mutations

VCP: (Pro137Leu) (Arg155Ser) (Arg155Cys) (Arg155His) (Gly157Arg) (Arg159His) (Arg191Gln) (Ala439Ser)

ID: 651

Sugiyama N, Suzuki K, Matsumura T et al. A novel missense mutation (G209R) in exon 8 of the... Human Mutation 14: 90, 1999 (PubMed ID: 10447269)

Mutations

PSEN1: (Gly209Arg)

ID: 71

Swerdlow RH. An Alzheimer disease presenilin mutation, syndrome... Neurology 74: 790-791, 2010 (PubMed ID: 20164096)

Mutations

PSEN1: (Met146Leu)

ID: 687

Tabira T, Chui de H, Nakayama H et al. Alzheimer's disease with spastic paresis and cotto... Journal of Neuroscience Research 70: 367-372, 2002 (PubMed ID: 12391599)

Mutations

PSEN1: (Pro284Leu) (Δ9)

ID: 165

Taddei K, Kwok JB, Kril JJ et al. Two novel presenilin-1 mutations (Ser169Leu and Pr... Neuroreport 9: 3335-3339, 1998 (PubMed ID: 9831473)

Mutations

PSEN1: (Ser169Leu) (Pro436Gln)

ID: 60

Tagliavini F, Rossi G, Padovani A et al. A new βPP mutation related to hereditary cere... Alzheimer's Reports 2 Supp 1: S28, 1999

Mutations

APP: (Glu693Lys; Italian APP)

ID: 364

Takamatsu J, Kondo A, Ikegami K et al. Selective expression of Ser 199/202 phosphorylated... Dementia and Geriatric Cognitive Disorders 9: 82-89, 1998 (PubMed ID: 9524799)

Mutations

MAPT: (IVS10+12C>T)

ID: 305

Takao M, Ghetti B, Hayakawa I et al. A novel mutation (G217D) in the Presenilin 1 gene... Acta Neuropathologica 104: 155-170, 2002 (PubMed ID: 12111359)

Mutations

PSEN1: (Gly217Asp)

ID: 148

Takao M, Ghetti B, Murrell JR et al. Ectopic white matter neurons, a developmental abno... Journal of Neuropathology and Experimental Neurology 60: 1137-1152, 2001 (PubMed ID: 11764087)

Mutations

PSEN1: (Ser169Leu)

ID: 147

Tamaoka A, Arai M, Itokawa M et al. TDP-43 M337V mutation in familial amyotrophic late... Internal Medicine 49: 331-334, 2010 (PubMed ID: 20154440)

Mutations

TARDBP: (Met337Val)

ID: 746

Tanahashi H, Kawakatsu S, Kaneko M et al. Sequence analysis of presenilin-1 gene mutation in... Neuroscience Letters 218: 139-141, 1996 (PubMed ID: 8945747)

Mutations

PSEN1: (His163Arg) (Glu280Ala) (Gly384Ala)

ID: 22

Tanahashi H, Mitsunaga Y, Takahashi K et al. Missense mutation of S182 gene in Japanese familia... The Lancet 346: 440, 1995 (PubMed ID: 7623585)

Mutations

PSEN1: (His163Arg)

ID: 20

Tanaka R, Kobayashi T, Motoi Y et al. A case of frontotemporal dementia with tau P301L m... Journal of Neurology 247: 705-707, 2000 (PubMed ID: 11081811)

Mutations

MAPT: (Pro301Leu)

ID: 262

Tang-Wai D, Lewis P, Boeve B et al. Familial frontotemporal dementia associated with a... Dementia and Geriatric Cognitive Disorders 14: 13-21, 2002 (PubMed ID: 12053127)

Mutations

PSEN1: (InsR352)

ID: 142

Tateishi T, Hokonohara T, Yamasaki R et al. Multiple system degeneration with basophilic inclu... Acta Neuropathologica 119: 355-364, 2010 (PubMed ID: 19967541)

Mutations

FUS: (Arg521Cys)

ID: 633

Tedde A, Bartoli A, Piaceri I et al. Novel presenilin 1 mutation (Ile408Thr) in an Ital... Neuroscience Letters 610: 150-153, 2016 (PubMed ID: 26549787)

Mutations

PSEN1: (Ile408Thr)

ID: 751

Tedde A, Nacmias B, Ciantelli M et al. Identification of new presenilin gene mutations in... Archives of Neurology 60: 1541-1544, 2003 (PubMed ID: 14623725)

Mutations

APP: (Val717Ile; London APP)
PSEN1: (Cys92Ser)
PSEN2: (Ser130Leu)

ID: 349

Tedde A, Forleo P, Nacmias B et al. A presenilin-1 mutation (Leu392Pro) in a familial... Neurology 55: 1590-1591, 2000 (PubMed ID: 11094128)

Mutations

PSEN1: (Leu392Pro)

ID: 103

Terreni L, Fogliarino S, Franceschi et al. Novel pathogenic mutation in an Italian patient wi... Neurobiology of Aging 23 (1S): S319, 2002

Mutations

APP: (Ile716Thr)

ID: 126

Terreni L, Valeria C, Calella AM et al. A novel missense mutation (L219F) in exon 8 of the... Neurobiology of Aging 21 Supp1: S176-S177, 2000

Mutations

PSEN1: (Met146Leu) (Leu219Phe)

ID: 95

Testi S, Peluso S, Fabrizi GM et al. A novel PSEN1 mutation in a patient with sporadic... Journal of Alzheimer's Disease 41: 709-714, 2014 (PubMed ID: 24718101)

Mutations

PSEN1: (Thr147Pro)

ID: 721

Theuns J, Marjaux E, Vandenbulcke M et al. Alzheimer dementia caused by a novel mutation loca... Human Mutation 27: 888-896, 2006 (PubMed ID: 16917905)

Mutations

APP: (Lys724Asn; Belgian APP)

ID: 390

Thonberg H, Fallström M, Björkström J et al. Mutation screening of patients with Alzheimer dise... BMC Research Notes 4: 476, 2011 (PubMed ID: 22044463)

Mutations

APP: (dupAPP[Swedish])

ID: 698

Ticozzi N, Silani V, LeClerc AL et al. Analysis of FUS gene mutation in familial amyotrop... Neurology 73: 1180-1185, 2009 (PubMed ID: 19741215)

Mutations

FUS: (Gly156Glu) (Arg234Leu) (Arg521Gly) (Arg521Cys) (Arg522)

ID: 630

Tiedt HO, Lueschow A, Winter P et al. Previously not recognized deletion in presenilin-1... Neuroscience Letters 544: 115-118, 2013 (PubMed ID: 23583593)

Mutations

PSEN1: (Leu174del)

ID: 719

Ting SK, Benzinger T, Kepe V et al. A novel PSEN1 mutation (I238M) associated with ear... Journal of Alzheimer's Disease 40: 271-275, 2014 (PubMed ID: 24413619)

Mutations

PSEN1: (Ile238Met)

ID: 717

Tolnay M, Spillantini MG, Rizzini C et al. A new case of frontotemporal dementia and parkinso... Neuropathology and Applied Neurobiology 26: 368-378, 2000 (PubMed ID: 10931371)

Mutations

MAPT: (IVS10+3G>A)

ID: 267

Tomaino C, Bernardi L, Anfossi M et al. Presenilin 2 Ser130Leu mutation in a case of late-... Journal of Neurology 254: 391-393, 2007 (PubMed ID: 17345043)

Mutations

PSEN2: (Ser130Leu)

ID: 442

Tomiyama T, Nagata T, Shimada H et al. A new amyloid beta variant favoring oligomerizatio... Annals of Neurology 63: 377-387, 2008 (PubMed ID: 18300294)

Mutations

APP: (Glu693del; ΔGlu693)

ID: 508

Traykov DL, Mehrabian S, Van den Broeck M et al. Novel PSEN1 mutation in a Bulgarian patient with v... American Journal of Alzheimer's Disease & Other Dementias 24: 404-407, 2009 (PubMed ID: 19797784)

Mutations

PSEN1: (Leu381Val)

ID: 655

Tremolizzo L, Gelosa G, Galbussera A et al. Higher than expected progranulin mutation rate in... Alzheimer disease and associated disorders 23: 301, 2009 (PubMed ID: 19730171)

Mutations

GRN: (Asp128) (Thr272fs)

ID: 652

Tresse E, Salomons FA, Vesa J et al. VCP/p97 is essential for maturation of ubiquitin-c... Autophagy 6: 217-227, 2010 (PubMed ID: 20104022)

Mutations

VCP: (Arg155His) (Ala232Glu)

ID: 683

Tsuboi Y, Uitti RJ, Baker M et al. Clinical features of frontotemporal dementia due t... Neurology 60: 525-526, 2003 (PubMed ID: 12578950)

Mutations

MAPT: (IVS10+16C>T)

ID: 285

Tsuboi Y, Baker M, Hutton ML et al. Clinical and genetic studies of families with the... Neurology 59: 1791-1793, 2002 (PubMed ID: 12473774)

Mutations

MAPT: (Asn279Lys)

ID: 206

Tsuboi Y, Uitti RJ, Delisle MB et al. Clinical features and disease haplotypes of indivi... Archives of Neurology 59: 943-950, 2002 (PubMed ID: 12056930)

Mutations

MAPT: (Asn279Lys)

ID: 205

Tysoe C, Whittaker J, Xuereb J et al. A presenilin-1 truncating mutation is present in t... American Journal of Human Genetics 62: 70-76, 1998 (PubMed ID: 9443865)

Mutations

PSEN1: (Intron4; InsTAC)

ID: 5

Urwin H, Josephs KA, Rohrer JD et al. FUS pathology defines the majority of tau- and TDP... Acta Neuropathologica 120: 33-41, 2010 (PubMed ID: 20490813)

Mutations

CHMP2B: (Thr9) (Thr124)

ID: 646

Uttner I, Kirchheiner J, Tumani H et al. A novel presenilin1 mutation (Q223R) associated wi... European Journal of Neurology 17: 631-633, 2010 (PubMed ID: 19912322)

Mutations

PSEN1: (Gln223Arg)

ID: 634

Van Broeckhoven C, Haan J, Bakker E et al. Amyloid beta protein precursor gene and hereditary... Science 248: 1120-1122, 1990 (PubMed ID: 1971458)

Mutations

APP: (Glu693Gln; Dutch APP)

ID: 137

Van Damme P, Goris A, Race V et al. The occurrence of mutations in FUS in a Belgian co... European Journal of Neurology 17: 754-756, 2010 (PubMed ID: 19922450)

Mutations

FUS: (Arg521His)

ID: 635

Van Deerlin VM, Leverenz JB, Bekris LM et al. TARDBP mutations in amyotrophic lateral sclerosis... The Lancet Neurology 7: 409-416, 2008 (PubMed ID: 18396105)

Mutations

TARDBP: (Gly290Ala) (Gly298Ser)

ID: 592

Van Deerlin VM, Wood EM, Moore P et al. Clinical, genetic, and pathologic characteristics... Archives of Neurology 64: 1148-1153, 2007 (PubMed ID: 17698705)

Mutations

GRN: (Arg110X) (Ser226fs;) (Trp304X) (Gln337X) (Arg418X) (Arg493X)

ID: 463

van der Zee J, Gijselinck I, Van Mossevelde S et al. TBK1 Mutation Spectrum in an Extended European Pat... Human Mutation E-pub: , 2016 (PubMed ID: 28008748)

Mutations

TBK1: (Gln2X) (Lys29fs) (Asn63Ser) (Lys30_Glu76del) (Thr79del) (Leu94Ser) (Val97fs) (Arg117X) (Gly121Asp) (Arg127X) (Arg143Cys) (Asp167del) (Val265Ala) (Arg271Leu) (Gly272_Thr331del) (Gly272_Thr331del) (Ser398fs) (Trp445X) (Ala417X) (Thr462fs) (Ser518fs)

ID: 754

van der Zee J, Pirici D, Van Langenhove T et al. Clinical heterogeneity in 3 unrelated families lin... Neurology 73: 626-632, 2009 (PubMed ID: 19704082)

Mutations

VCP: (Arg159His)

ID: 624

van der Zee J, Pirici P, Van den Broeck M et al. VCP mutation in frontotemporal lobar degeneration... Alzheimer's & Dementia 4 Supp 2: T141, 2008

Mutations

VCP: (Arg159His)

ID: 546

van der Zee J, Urwin H, Engelborghs S et al. CHMP2B C-truncating mutations in frontotemporal lo... Human Molecular Genetics 17: 313-322, 2008 (PubMed ID: 17956895)

Mutations

CHMP2B: (Gln165X)

ID: 485

van der Zee J, Gijselinck I, Pirici D et al. Frontotemporal lobar degeneration with ubiquitin-p... Neurodegenerative Diseases 4: 227-235, 2007 (PubMed ID: 17596717)

Mutations

CHMP2B: (Asn143Ser) (Gln165X)
VCP: (Arg159His)

ID: 472

van der Zee J, Le Ber I, Maurer-Stroh S et al. Mutations other than null mutations producing a pa... Human Mutation 28: 416, 2007 (PubMed ID: 17345602)

Mutations

GRN: (Asp33) (Pro34) (Gly93) (Ser106Asn) (Asp128) (Cys158Tyr) (Arg212Gln) (Thr220Ser) (Pro248Leu) (Ser258Asn) (Leu261Ile) (Thr268) (Ser301) (Lys332) (Arg418Gln) (Arg432Cys) (Arg433Trp) (Pro470Leu) (Cys475) (Cys495) (Gly515Ala) (Val550Ile) (Cys565)

ID: 441

van der Zee J, Rademakers R, Engelborghs S et al. A Belgian ancestral haplotype harbours a highly pr... Brain 129: 841-852, 2006 (PubMed ID: 16495329)

Mutations

MAPT: (Gly273Arg)

ID: 379

van der Zee J, Gijselinck I, Dillen L et al. A Pan-European study of the C9orf72 repeat associa... Human Mutation : , 2012 (PubMed ID: 23111906)

Mutations

C9orf72: (g.26746_26773del) (g.26746_26761del) (g.26747_26756delGTGGTCGGGG) (g.26747_26751delGTGGT) (g.26747_26768del) (g.26742_26764del) (g.26752_26762delCGGGGCGGGCC) (g.26752_26774del) (g.26753_26764delGGGGCGGGCCCG) (g.26775_26776insG) (g.26775_26776insGGGGCGGGCCCG) (Thr66Ser)

ID: 702

van Herpen E, Rosso SM, Serverijnen LA et al. Variable phenotypic expression and extensive tau p... Annals of Neurology 54: 573-581, 2003 (PubMed ID: 14595646)

Mutations

MAPT: (Leu315Arg)

ID: 231

Van Langenhove T, van der Zee J, Sleegers K et al. Genetic contribution of FUS to frontotemporal loba... Neurology 74: 366-371, 2010 (PubMed ID: 20124201)

Mutations

FUS: (Gly174_Gly175del; delGG) (Met254Val) (Arg521His)

ID: 659

van Swieten JC, Stevens M, Rosso SM et al. Phenotypic variation in hereditary frontotemporal... Annals of Neurology 46: 617-626, 1999 (PubMed ID: 10514099)

Mutations

MAPT: (Gly272Val) (Pro301Leu) (Arg406Trp)

ID: 193

Vance C, Rogelj B, Hortobágyi T et al. Mutations in FUS, an RNA processing protein, cause... Science 323: 1208-1211, 2009 (PubMed ID: 19251628)

Mutations

FUS: (Arg514Gly) (Arg521Cys) (Arg521His)

ID: 625

Verkkoniemi A, Somer M, Rinne JO et al. Variant Alzheimer's disease with spastic parapares... Neurology 54: 1103-1109, 2000 (PubMed ID: 10720282)

Mutations

PSEN1: (Δ9Finn)

ID: 89

Viassolo V, Previtali SC, Schiatti E et al. Inclusion body myopathy, Paget's disease of the bo... Clinical Genetics 74: 54-60, 2008 (PubMed ID: 18341608)

Mutations

VCP: (Arg155His)

ID: 513

Wakutani Y. Gene symbol: APP. Disease: Familial Alzheimer's di... Human Genetics 117: 299, 2005 (PubMed ID: 16156029)

Mutations

APP: (Asp678Asn; Tottori APP)

ID: 367

Wakutani Y, Watanabe K, Adachi Y et al. Novel amyloid precursor protein gene missense muta... Journal of Neurology, Neurosurgery and Psychiatry 75: 1039-1042, 2004 (PubMed ID: 15201367)

Mutations

APP: (Asp678Asn; Tottori APP)

ID: 338

Walker RH, Friedman J, Wiener J et al. A family with a tau P301L mutation presenting with... Parkinsonism and Related Disorders 9: 121-123, 2002 (PubMed ID: 12473404)

Mutations

MAPT: (Pro301Leu)

ID: 263

Wallon D, Rousseau S, Rovelet-Lecrux A et al. The French series of autosomal dominant early onse... Journal of Alzheimer's Disease 30: 847-856, 2012 (PubMed ID: 22475797)

Mutations

APP: (dupAPP[ALZ254]) (dupAPP[EXT187]) (dupAPP[EXT144]) (dupAPP[EXT145]) (dupAPP[EXT054]) (dupAPP[EXT279]) (dupAPP[EXT298]) (Val715Ala; German APP) (Val717Ile; London APP) (Leu723Pro; Australian APP)
PSEN1: (Ala79Val) (Tyr115Cys) (Thr116Ile) (Met139Lys) (Met139Thr) (Met146Leu) (Leu150Pro) (His163Arg) (Trp165Cys) (Leu173Trp) (Glu184Gly) (Gly206Ala) (Gln222His) (Gln223Arg) (Ser230Ile) (Met233Ile) (Ala260Val) (Leu262Val) (Pro264Leu) (Glu273Gly) (Leu286Val) (Arg377Trp) (Val391Phe) (Cys410Tyr) (Leu418Phe)
PSEN2: (Arg71Trp) (Lys161Arg) (Met239Val)

ID: 727

Wasco W, Pettingell WP, Jondro PD et al. Familial Alzheimer's chromosome 14 mutations. Nature Medicine 1: 848, 1995 (PubMed ID: 7585193)

Mutations

PSEN1: (Cys263Arg) (Pro264Leu)

ID: 29

Watts GD, Thomasova D, Ramdeen SK et al. Novel VCP mutations in inclusion body myopathy ass... Clinical Genetics 72: 420-426, 2007 (PubMed ID: 17935506)

Mutations

VCP: (Leu198Trp) (Asn387His)

ID: 481

Watts GD, Wymer J, Kovach MJ et al. Inclusion body myopathy associated with Paget dise... Nature Genetics 36: 377-381, 2004 (PubMed ID: 15034582)

Mutations

VCP: (Arg95Gly) (Arg155Cys) (Arg155His) (Arg155Pro) (Arg191Gln) (Ala232Glu)

ID: 478

Wijker M, Wszolek ZK, Wolters EC et al. Localization of the gene for rapidly progressive a... Human Molecular Genetics 5: 151-154, 1996 (PubMed ID: 8789453)

Mutations

MAPT: (Asn279Lys)

ID: 199

Wilhelmsen KC, Lynch T, Pavlou E et al. Localization of disinhibition-dementia-parkinsonis... American Journal of Human Genetics 55: 1159-1165, 1994 (PubMed ID: 7977375)

Mutations

MAPT: (IVS10+14C>T)

ID: 274

Williams KL, McCann EP, Fifita JA et al. Novel TBK1 truncating mutation in a familial amyot... Neurobiology of Aging 36: 3334e1-5, 2015 (PubMed ID: 26350399)

Mutations

TBK1: (Pro400fs;Ile399fs)

ID: 735

Williams KL, Durnall JC, Thoeng AD et al. A novel TARDBP mutation in an Australian amyotroph... Journal of Neurology, Neurosurgery and Psychiatry 80: 1286-1288, 2009 (PubMed ID: 19864664)

Mutations

TARDBP: (Gly294Val)

ID: 639

Winton MJ, Van Deerlin VM, Kwong LK et al. A90V TDP-43 variant results in the aberrant locali... FEBS Letters 582: 2252-2256, 2008 (PubMed ID: 18505686)

Mutations

TARDBP: (Ala90Val)

ID: 603

Wisniewski T, Dowjat WK, Buxbaum JD et al. A novel Polish presenilin-1 mutation (P117L) is as... NeuroReport 9: 217-221, 1998 (PubMed ID: 9507958)

Mutations

PSEN1: (Pro117Leu)

ID: 6

Wong S et al. . Personal Communication : , 2008

Mutations

GRN: (Arg547Cys)

ID: 534

Wong SH, Lecky BR, Steiger MJ. Parkinsonism and impulse control disorder: present... Movement Disorders 24: 618-619, 2009 (PubMed ID: 19133655)

Mutations

GRN: (Arg547Cys)

ID: 616

Woodruff BK, Baba Y, Hutton ML et al. Haplotype-phenotype correlations in kindreds with... Archives of Neurology 61: 1327, 2004 (PubMed ID: 15313857)

Mutations

MAPT: (Asn279Lys)

ID: 324

Wszolek ZK, Tsuboi Y, Uitti RJ et al. Progressive supranuclear palsy as a disease phenot... Brain 124: 1666-1670, 2001 (PubMed ID: 11459757)

Mutations

MAPT: (Ser305)

ID: 227

Wszolek ZK, Tsuboi Y, Uitti RJ et al. Two brothers with frontotemporal dementia and park... Neurology 55: 1939, 2000 (PubMed ID: 11134413)

Mutations

MAPT: (Asn279Lys)

ID: 208

Wszolek ZK, Lagerlund TD, Steg RE et al. Clinical neurophysiologic findings in patients wit... Electroencephalography and Clinical Neurophysiology 107: 213-222, 1998 (PubMed ID: 9803952)

Mutations

MAPT: (Asn279Lys)

ID: 200

Wszolek ZK, Pfeiffer RF, Bhatt MH et al. Rapidly progressive autosomal dominant parkinsonis... Annals of Neurology 32: 312-320, 1992 (PubMed ID: 1416801)

Mutations

MAPT: (Asn279Lys)

ID: 201

Yagi R, Miyamoto R, Morino H et al. Detecting gene mutations in Japanese Alzheimer's p... Neurobiology of Aging 35: 1780.e1-5, 2014 (PubMed ID: 24559647)

Mutations

APP: (Lys510Asn)
PSEN1: (His163Arg) (Phe386Leu)
PSEN2: (Ala258Val) (Thr421Met)

ID: 712

Yamaoka LH, Welsh-Bohmer KA, Hulette CM et al. Linkage of frontotemporal dementia to chromosome 1... American Journal of Human Genetics 59: 1306-1312, 1996 (PubMed ID: 8940276)

Mutations

MAPT: (IVS10+16C>T)

ID: 286

Yasuda M, Yokoyama K, Nakayasu T et al. A Japanese patient with frontotemporal dementia an... Neurology 55: 1224-1227, 2000 (PubMed ID: 11071507)

Mutations

MAPT: (Pro301Ser)

ID: 224

Yasuda M, Takamatsu J, D'Souza I et al. A novel mutation at position +12 in the intron fol... Annals of Neurology 47: 422-429, 2000 (PubMed ID: 10762152)

Mutations

MAPT: (IVS10+12C>T)

ID: 271

Yasuda M, Maeda S, Kawamata T et al. Novel presenilin-1 mutation with widespread cortic... Journal of Neurology, Neurosurgery and Psychiatry 68: 220-223, 2000 (PubMed ID: 10644793)

Mutations

PSEN1: (Asn405Ser)

ID: 69

Yasuda M, Kawamata T, Komure O et al. A mutation in the microtubule-associated protein t... Neurology 53: 864-868, 1999 (PubMed ID: 10489057)

Mutations

MAPT: (Asn279Lys)

ID: 203

Yasuda M, Maeda K, Hashimoto M et al. A pedigree with a novel presenilin 1 mutation at a... Archives of Neurology 56: 65-69, 1999 (PubMed ID: 9923762)

Mutations

PSEN1: (Glu123Lys)

ID: 57

Yasuda M, Maeda K, Ikejiri Y et al. A novel missense mutation in the presenilin-1 gene... Neuroscience Letters 232: 29-32, 1997 (PubMed ID: 9292884)

Mutations

PSEN1: (Glu184Asp)

ID: 24

Yescas P, Huertas-Vazquez A, Villarreal-Molina MT et al. Founder effect for the Ala431Glu mutation of the p... Neurogenetics 7: 195-200, 2006 (PubMed ID: 16628450)

Mutations

PSEN1: (Ala431Glu)

ID: 383

Yokoseki A, Shiga A, Tan CF et al. TDP-43 mutation in familial amyotrophic lateral sc... Annals of Neurology 63: 538-542, 2008 (PubMed ID: 18438952)

Mutations

TARDBP: (Gln343Arg)

ID: 591

Yoshioka K, Miki T, Katsuya T et al. The 717Val->Ile substitution in amyloid precursor... Biochemical and Biophysical Research Communications 178: 1141-1146, 1991 (PubMed ID: 1908231)

Mutations

APP: (Val717Ile; London APP)

ID: 43

Yoshizawa T, Komatsuzaki Y, Iwamoto H et al. Screening of the mis-sense mutation producing the... Journal of the Neurological Sciences 117: 12-15, 1993 (PubMed ID: 8410047)

Mutations

APP: (Val717Ile; London APP)

ID: 51

Youn YC, Bagyinszky E, Kim H et al. Probable novel PSEN2 Val214Leu mutation in Alzheim... BMC Neurology 14: 105, 2014 (PubMed ID: 24885952)

Mutations

PSEN2: (Val214Leu)

ID: 736

Yu CE, Bird TD, Bekris LM et al. The spectrum of mutations in progranulin: a collab... Archives of Neurology 67: 161-170, 2010 (PubMed ID: 20142524)

Mutations

GRN: (Ala9Asp) (Cys31fs) (Asp33) (Leu53) (Gly70Ser) (Val77Ile) (Ala89fs;IVS3+2T>C) (Pro100fs) (Cys105Arg) (Arg110X) (Ser116X) (Ala89fs) (Gln130fs) (Thr182Met) (Arg198fs) (Arg212Trp) (Ser226fs;) (Ala237fs) (Thr251Ser) (Thr272fs) (Ala276Val) (Asp285fs) (Arg298His) (Ser301) (Trp304X) (Ala324Thr) (Gln337X) (Ser353Asn) (Pro357Arg) (Trp386X) (Glu316_Cys397del) (Arg418X) (Arg418Gln) (Arg433Trp) (Asp441fs) (Gln468X) (IVS11-15_EX12+177del; Δ12; A472fs) (Ala472_Gln548del) (Arg493X) (Gly515Ala)

ID: 642

Zarranz JJ, Ferrer I, Lezcano E et al. A novel mutation (K317M) in the MAPT gene causes F... Neurology 64: 1578-1585, 2005 (PubMed ID: 15883319)

Mutations

MAPT: (Lys317Met)

ID: 357

Zarranz JJ, Ferrer I, Lezcano E et al. A novel mutation (K317M) in the MAPT gene causes a... Genotype-Proteotype-Phenotype Relationships in Neurodegenerative Diseases. IPSEN Meeting, Paris : , 2004

Mutations

MAPT: (Lys317Met)

ID: 329

Zekanowski C, Golan MP, Krzysko KA et al. Two novel presenilin 1 gene mutations connected wi... Experimental Neurology 200: 82-88, 2006 (PubMed ID: 16546171)

Mutations

PSEN1: (Leu226Phe) (Leu424His)

ID: 435

Zekanowski C, Styczynska M, Peplonska B et al. Mutations in presenilin 1, presenilin 2 and amyloi... Experimental Neurology 184: 991-996, 2003 (PubMed ID: 14769392)

Mutations

APP: (Thr714Ala, Iranian APP) (Val715Ala; German APP)
PSEN1: (Pro117Arg) (Met139Val) (His163Arg) (Ile213Phe)
PSEN2: (Gln228Leu)

ID: 317


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic



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