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Pick bodies in a family with presenilin‐1 Alzheimer's disease
Author(s) -
Halliday Glenda M.,
Song Yun Ju C.,
Lepar Gila,
Brooks William S.,
Kwok John B.,
Kersaitis Cindy,
Gregory Gillian,
Shepherd Claire E.,
Rahimi Farid,
Schofield Peter R.,
Kril Jillian J.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20366
Subject(s) - presenilin , dephosphorylation , disease , alzheimer's disease , mutation , gene isoform , intracellular , phosphorylation , mutant , degenerative disease , neuroscience , biology , genetics , medicine , gene , phosphatase
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. Ann Neurol 2005;57:139–143