Farlow MR, Murrell JR, Hulette CM, Ghetti B. Hereditary lateral sclerosis and Alzheimer disease associated with mutation at codon 261 of the presenilin 1 (PS1) gene. Neurobiology of Aging 21 Supp1: S62, 2000

Mutations

PSEN1: (Val261Phe)

ID: 92

Farlow MR, Murrell J,Unverzagt FW, Phillips M, Takao M, Ghetti B, Hulette C. Familial Alzheimer's disease with spastic paraparesis associated with a mutation at codon 261 of the presenilin 1 gene. Alzheimer's disease: advances in etiology, pathogenesis and therapeutics Chapter 6: 53-60, 2001

Mutations

PSEN1: (Val261Phe)

ID: 565

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

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