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

Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. 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

Park HK, Na DL, Lee JH, Kim JW, Ki CS. Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease. Journal of Korean Medical Science 23: 213-217, 2008 (PubMed ID: 18437002)

Mutations

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

ID: 527