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

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.

• Authors: Glenda M Halliday, 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
• Journal: Annals of neurology (Ann Neurol) Vol. 57 Issue 1 Pg. 139-43 (Jan 2005) ISSN: 0364-5134 [Print] United States
• PMID: 15622541 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Proteins
• PSEN1 protein, human
• Presenilin-1
• tau Proteins
• Methionine
• Leucine

Topics

• Aged
• Aged, 80 and over
• Alzheimer Disease (complications, genetics, metabolism)
• Blotting, Western (methods)
• DNA Mutational Analysis
• Family Health
• Female
• Genetic Predisposition to Disease
• Humans
• Immunohistochemistry (methods)
• Leucine (genetics)
• Male
• Membrane Proteins (genetics, metabolism)
• Methionine (genetics)
• Middle Aged
• Mutation
• Neurofibrillary Tangles (metabolism)
• Pick Disease of the Brain (complications, genetics, metabolism)
• Plaque, Amyloid (metabolism)
• Postmortem Changes
• Presenilin-1
• tau Proteins (metabolism)