Kwok JB, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, St George Hyslop PH, Fraser PE, Kakulas B, Clarnette R, Relkin N, Gandy SE, Schofield PR, Martins RN. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport 8: 1537-1542, 1997 (PubMed ID: 9172170)

Mutations

PSEN1: (Met233Thr) (Pro264Leu) (Arg278Thr) (Glu280Ala) (Δ9) (Δ9)

ID: 25

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

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

Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiology of Aging 31: 725-731, 2010 (PubMed ID: 18667258)

Mutations

APP: (Ile716Phe) (His733Pro)
PSEN1: (Arg35Gln) (Thr116Asn) (Val191Ala) (His214Asp) (Met233Thr) (Leu248Arg) (Ala260Val) (Val272Ala) (Ser365Ala)
PSEN2: (Arg29His) (Arg62His) (Arg71Trp) (Leu143His) (Met174Val) (Ala252Thr)

ID: 538