| Literature DB >> 15622541 |
Glenda M Halliday1, Yun Ju C Song, Gila Lepar, William S Brooks, John B Kwok, Cindy Kersaitis, Gillian Gregory, Claire E Shepherd, Farid Rahimi, Peter R Schofield, Jillian J Kril.
Abstract
Presenilin-1 (PS-1) mutations can cause Pick's disease without evidence of Alzheimer's disease (AD). We describe a family with a PS-1 M146L mutation and both Pick bodies and AD. Sarkosyl-insoluble hyperphosphorylated tau showed three bands consistent with AD, although dephosphorylation showed primarily three-repeat isoforms. M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism.Entities:
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Year: 2005 PMID： 15622541 DOI： 10.1002/ana.20366
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422