Alzheimer Disease & Frontotemporal Dementia Mutation Database






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)


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

Tang-Wai D, Lewis P, Boeve B, Hutton M, Golde T, Baker M, Hardy J, Michels V, Ivnik R, Jack C, Petersen R. Familial frontotemporal dementia associated with a novel presenilin-1 mutation. Dementia and Geriatric Cognitive Disorders 14: 13-21, 2002 (PubMed ID: 12053127)


PSEN1: (InsR352)

ID: 142

Amtul Z, Lewis PA, Piper S, Crook R, Baker M, Findlay K, Singleton A, Hogg M, Younkin L, Younkin SG, Hardy J, Hutton M, Boeve BF, Tang-Wai D, Golde TE. A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiology of Disease 9: 269-273, 2002 (PubMed ID: 11895378)


PSEN1: (InsR352)

ID: 141

Pickering-Brown SM, Baker M, Gass J, Boeve BF, Loy CT, Brooks WS, Mackenzie IR, Martins RN, Kwok JB, Halliday GM, Kril J, Schofield PR, Mann DM, Hutton M. Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain 129: 3124-3216, 2006 (PubMed ID: 17071927)


PSEN1: (InsR352)
GRN: (IVS2+1G>A) (IVS11-15_EX12+177del; Δ12; A472fs) (Arg493X)
MAPT: (Ala239Thr) (IVS10+29G>A)

ID: 419

Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic

Publication ID In (112,141,142,419)

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