Pick bodies in a family with presenilin-1 Alzheimer's disease.
case_report · Level V
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- Record sourced from PubMed, PMID 15622541.
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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.
Medical subject headings
- Alzheimer Disease
- Membrane Proteins
- Pick Disease of the Brain