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Ann Neurol. 2005 Jan;57(1):139-43.

Pick bodies in a family with presenilin-1 Alzheimer's disease.

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  • 1Prince of Wales Medical Research Institute and the University of New South Wales, Barker Street, Randwick, Sydney, 2031 NSW, Australia.


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.

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