Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sansosu P, Polinsky RJ, Wasco W, Da Silva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop P. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754-760, 1995 (PubMed ID: 7596406)

Mutations

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

ID: 19

Sorbi S, Nacmias B, Forleo P, Piacentini S, Sherrington R, Rogaev E, St George Hyslop P, Amaducci L. Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. The Lancet 346: 439-440, 1995 (PubMed ID: 7623584)

Mutations

PSEN1: (Met146Leu)

ID: 17

Clark RF, Hutton M, Fuldner RA, Froelich S, Karran E, Talbot C, Crook R, Lendon C, Prihar G, He C, Korenblat K, Martinez A, Wragg M, Busfield F, Behrens MI, Myers A, Norton J, Morris J, Mehta N, Pearson C, Lincoln C, Baker M, Duff K, Zehr C, Perez-Tur J, Houlden H, Ruiz A, Ossa J, Lopera F, Arcos M, Madrigal L, Collinge J, Humphreys C, Ashworth A, Sarner S, Fox N, Harvey R, Kennedy A, Roques P, Cline RT, Phillips CA, Venter JC, Forsell L, Axelman K, Lilius L, Johnston J, Cowburn R, Viitanen M, Winblad B, Kosik K, Haltia M, Poyhonen M, Dickson D, Mann D, Neary D, Snowdon J, Lantos P, Lannfelt L, Rossor M, Roberts GW, Adams MD, Hardy J, Goate A. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genetics 11: 219-222, 1995 (PubMed ID: 7550356)

Mutations

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

ID: 13

Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. 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

Terreni L, Valeria C, Calella AM, Gavazzi A, Alberoni M, Grimaldi LM, Mariani C, Forloni G. A novel missense mutation (L219F) in exon 8 of the presenilin 1 gene in an Italian family with presenile familial Alzheimer's disease. Neurobiology of Aging 21 Supp1: S176-S177, 2000

Mutations

PSEN1: (Met146Leu) (Leu219Phe)

ID: 95

Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 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

Halliday GM, Song YJ, Lepar G, Brooks WS, Kwok JB, Kersaitis C, Gregory G, Shepherd CE, Rahimi F, Schofield PR, Kril JJ. Pick bodies in a family with presenilin-1 Alzheimer's disease. Annals of Neurology 57: 139-143, 2005 (PubMed ID: 15622541)

Mutations

PSEN1: (Met146Leu) (Δ9) (Δ9)

ID: 385

Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S, Kapaki E, Davaki P, Lamszus K, Stavrou D, Gal A. Novel mutations and repeated findings of mutations in familial Alzheimer disease. Neurogenetics 6: 85-89, 2005 (PubMed ID: 15776278)

Mutations

APP: (Val717Ile; London APP) (Val717Leu) (Val717Phe)
PSEN1: (Leu113Gln) (Tyr115His) (Asn135Ser) (Met146Leu) (Leu235Pro) (Gly378Glu)
PSEN2: (Thr122Pro) (Asn141Ile)

ID: 354

Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca MG, Leotta A, Lio SG, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappatà S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin JF, Spillantini MG, Puccio G.. Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. Neurology 74: 798-806, 2010 (PubMed ID: 20164095)

Mutations

PSEN1: (Met146Leu)

ID: 670

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

Mutations

PSEN1: (Met146Leu)

ID: 687