Golan M, Lipczynska-Lojkowska W, Krzysko KA, Styczynska M, Luczywek E, Filipek S, Kulczycki J, Zekanowski C, Barcikowska M. Two novel mutations in presenilin 1 (PSEN1) gene connected with atypical familial early-onset Alzheimer's disease (EOAD). Alzheimer's and Parkinson's Diseases: Insights, Progress and Perspectives. 7th International Conference AD/PD 2005 Book of Abstracts : 24, 2005

Mutations

PSEN1: (Leu226Phe) (Leu424His)

ID: 459

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

Zekanowski C, Golan MP, Krzysko KA, Lipczynska-Lojkowska W, Filipek S, Kowalska A, Rossa G, Peplonska B, Styczynska M, Maruszak A, Religa D, Wender M, Kulczycki J, Barcikowska M, Kuznicki J. Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. Experimental Neurology 200: 82-88, 2006 (PubMed ID: 16546171)

Mutations

PSEN1: (Leu226Phe) (Leu424His)

ID: 435