Cruts M, Backhovens H, Wang SY, Gassen GV, Theuns J, De Jonghe CD, Wehnert A, De Voecht J, De Winter G, Cras P,Bruyland M, Datson N, Weissenbach J, den Dunnen JT,Martin J-J,Hendriks L, Van Broeckhoven C. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Human Molecular Genetics 4: 2363-2372, 1995 (PubMed ID: 8634711)

Mutations

PSEN1: (Ile143Thr) (Gly384Ala)

ID: 1

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

Arango D, Cruts M, Torres O, Backhovens H, Serrano ML, Villareal E, Montanes P, Matallana D, Cano C, Van Broeckhoven C, Jacquier M. Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. American Journal of Medical Genetics 103: 138-143, 2001 (PubMed ID: 11568920)

Mutations

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

ID: 119

Miravalle L, Murrell JR, Takao M, Glazier B, Piccardo P, Vidal R, Ghetti B. Genetic mutations associated with presenile dementia. Neurobiology of Aging 23 (1S): S322, 2002

Mutations

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

ID: 125

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

Arai N, Kishino A, Takahashi Y, Morita D, Nakamura K, Yokoyama T, Watanabe T, Ida M, Goto J, Tsuji S. Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation. Neurogenetics 9: 65-67, 2008 (PubMed ID: 17968601)

Mutations

PSEN1: (Ile143Thr)

ID: 537