Lanska DJ, Currier RD, Cohen M, Gambetti P, Smith EE, Bebin J, Jackson JF, Whitehouse PJ, Markesbery WR. Familial progressive subcortical gliosis. Neurology 44: 1633-1643, 1994 (PubMed ID: 7936288)

Mutations

MAPT: (IVS10+16C>T)

ID: 280

Petersen RB, Tabaton M, Chen SG, Monari L, Richardson SL, Lynch T, Manetto V, Lanska DJ, Markesbery WR, Lynches T. Familial progressive subcortical gliosis: presence of prions and linkage to chromosome 17. Neurology 45: 1062-1067, 1995 (PubMed ID: 7783864)

Mutations

MAPT: (IVS10+16C>T)

ID: 283

Brown J, Lantos PL, Roques P, Fidani L, Rossor MN. Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study. Journal of the Neurological Sciences 135: 21-30, 1996 (PubMed ID: 8926492)

Mutations

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

ID: 212

Yamaoka LH, Welsh-Bohmer KA, Hulette CM, Gaskell PC, Jr., Murray M, Rimmler JL, Helms BR, Guerra M, Roses AD, Schmechel DE, Pericak-Vance MA. Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. American Journal of Human Genetics 59: 1306-1312, 1996 (PubMed ID: 8940276)

Mutations

MAPT: (IVS10+16C>T)

ID: 286

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

Mutations

MAPT: (IVS10+16C>T)

ID: 276

Baker M, Kwok JB, Kucera S, Crook R, Farrer M, Houlden H, Isaacs A, Lincoln S, Onstead L, Hardy J, Wittenberg L, Dodd P, Webb S, Hayward N, Tannenberg T, Andreadis A, Hallupp M, Schofield P, Dark F, Hutton M. Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Annals of Neurology 42: 794-798, 1997 (PubMed ID: 9392579)

Mutations

MAPT: (IVS10+16C>T)

ID: 275

Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Heutink P. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705, 1998 (PubMed ID: 9641683)

Mutations

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

ID: 187

Goedert M, Spillantini MG, Crowther RA, Chen SG, Parchi P, Tabaton M, Lanska DJ, Markesbery WR, Wilhelmsen KC, Dickson DW, Petersen RB, Gambetti P. Tau gene mutation in familial progressive subcortical gliosis. Nature Medicine 5: 454-457, 1999 (PubMed ID: 10202939)

Mutations

MAPT: (IVS10+16C>T)

ID: 277

Houlden H, Baker M, Adamson J, Grover A, Waring S, Dickson D, Lynch T, Boeve B, Petersen RC, Pickering-Brown S, Owen F, Neary D, Craufurd D, Snowden J, Mann D, Hutton M. Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. 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

Hulette CM, Pericak-Vance MA, Roses AD, Schmechel DE, Yamaoka LH, Gaskell PC, Welsh-Bohmer KA, Crowther RA, Spillantini MG. Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke Family 1684. Journal of Neuropathology and Experimental Neurology 58: 859-866, 1999 (PubMed ID: 10446810)

Mutations

MAPT: (IVS10+16C>T)

ID: 278

Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, Tabira T, Trojanowski JQ, Borson S, Galasko D, Reich S, Quinn B, Schellenberg G, Bird TD. Frequency of tau gene mutations in familial and sporadic cases of non- Alzheimer dementia. Archives of Neurology 58: 383-387, 2001 (PubMed ID: 11255441)

Mutations

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

ID: 259

Morris HR, Khan MN, Janssen JC, Brown JM, Perez-Tur J, Baker M, Ozansoy M, Hardy J, Hutton M, Wood NW, Lees AJ, Revesz T, Lantos P, Rossor MN. The genetic and pathological classification of familial frontotemporal dementia. Archives of Neurology 58: 1813-1816, 2001 (PubMed ID: 11708988)

Mutations

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

ID: 222

Pickering-Brown SM, Richardson AM, Snowden JS, McDonagh AM, Burns A, Braude W, Baker M, Liu WK, Yen SH, Hardy J, Hutton M, Davies Y, Allsop D, Craufurd D, Neary D, Mann DM. Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain 125: 732-751, 2002 (PubMed ID: 11912108)

Mutations

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

ID: 284

Janssen JC, Warrington EK, Morris HR, Lantos P, Brown J, Revesz T, Wood N, Khan MN, Cipolotti L, Fox NC, Rossor MN. Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology 58: 1161-1168, 2002 (PubMed ID: 11971081)

Mutations

MAPT: (IVS10+16C>T)

ID: 279

Lantos PL, Cairns NJ, Khan MN, King A, Revesz T, Janssen JC, Morris H, Rossor MN. Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology 58: 1169-1175, 2002 (PubMed ID: 11971082)

Mutations

MAPT: (IVS10+16C>T)

ID: 281

Tsuboi Y, Uitti RJ, Baker M, Hutton ML, Wszolek ZK. Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology 60: 525-526, 2003 (PubMed ID: 12578950)

Mutations

MAPT: (IVS10+16C>T)

ID: 285

Morris HR, Osaki Y, Holton J, Lees AJ, Wood NW, Revesz T, Quinn N. Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology 61: 102-104, 2003 (PubMed ID: 12847166)

Mutations

MAPT: (IVS10+16C>T)

ID: 282

Stanford PM, Brooks WS, Teber ET, Hallupp M, McLean C, Halliday GM, Martins RN, Kwok JB, Schofield PR. Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. 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

Doran M, du Plessis DG, Ghadiali EJ, Mann DM, Pickering-Brown S, Larner AJ. Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease. Archives of Neurology 64: 1535-1539, 2007 (PubMed ID: 17923640)

Mutations

MAPT: (IVS10+16C>T)

ID: 476

Larner AJ. Mutation negative "early-onset familial Alzheimer disease": consider screening for tau gene mutations. Alzheimer Disease and Associated Disorders 22: 194-195, 2008 (PubMed ID: 18525295)

Mutations

MAPT: (IVS10+16C>T)

ID: 562

Colombo R, Tavian D, Baker MC, Richardson AM, Snowden JS, Neary D, Mann DM, Pickering-Brown SM. Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. Neurogenetics 10: 313-318, 2009 (PubMed ID: 19365643)

Mutations

MAPT: (IVS10+16C>T)

ID: 583

Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN.. The heritability and genetics of frontotemporal lobar degeneration. 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

Larner AJ. Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation. Journal of Neurological Sciences 287: 253-256, 2009 (PubMed ID: 19766248)

Mutations

MAPT: (IVS10+16C>T)

ID: 656

Rohrer JD, Ridgway GR, Modat M, Ourselin S, Mead S, Fox NC, Rossor MN, Warren JD. Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. 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