Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269: 973-977, 1995 (PubMed ID: 7638622)

Mutations

PSEN2: (Asn141Ile)

ID: 35

Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, Mar L, Sorbi S, Nacmias B, Piacentini S, Amaducci L, Chumakov I, Cohen D, Lannfelt L, Fraser PE, Rommens JM, St George-Hyslop PH. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376: 775-778, 1995 (PubMed ID: 7651536)

Mutations

PSEN1: (Ala260Val) (Ala285Val) (Leu392Val)
PSEN2: (Asn141Ile) (Met239Val)

ID: 27

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