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Pick Bodies in a Family with Presenilin-1 Alzheimer's Disease

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Date

2005

Authors

Halliday, Glenda M
Song, Yun Ju C
Lepar, Gila
Brooks, William S
Kwok, John B
Kersaitis, Cindy
Gregory, Gillian
Shepherd, Claire E
Rahimi, Ahmed (Farid)
Schofield, Peter

Journal Title

Journal ISSN

Volume Title

Publisher

Wiley-Liss Inc

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.

Description

Keywords

Keywords: presenilin 1; tau protein; adult; aged; Alzheimer disease; article; clinical article; disease predisposition; family history; female; gene mutation; histopathology; human; human cell; human tissue; male; metabolism; Pick presenile dementia; priority journ

Citation

URI

http://hdl.handle.net/1885/49989

Collections

ANU Research Publications

Source

Annals of Neurology

Type

Journal article

Book Title

Entity type

Access Statement

License Rights

DOI

10.1002/ana.20366

Restricted until

2037-12-31

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