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

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

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

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

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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.

Original language	English
Number of pages	5
Journal	Annals of Neurology
Publication status	Published - 2005

Keywords

Alzheimer's disease
dementia
genetic aspects
molecular aspects
neurology
presenile dementia

Cite this

@article{b92fa760ebe84eb38cd8bd39e1043674,

title = "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.",

keywords = "Alzheimer's disease, dementia, genetic aspects, molecular aspects, neurology, presenile dementia",

author = "Halliday, {Glenda M.} and Song, {Yun Ju C.} and Gila Lepar and Brooks, {William S.} and Kwok, {John B.} and Cindy Kersaitis and Gillian Gregory and Shepherd, {Claire E.} and Farid Rahimi and Schofield, {Peter R.} and Kril, {Jillian J.}",

year = "2005",

language = "English",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley & Sons",

}

TY - JOUR

T1 - Pick bodies in a family with presenilin-1 Alzheimer's disease

AU - Halliday, Glenda M.

AU - Song, Yun Ju C.

AU - Lepar, Gila

AU - Brooks, William S.

AU - Kwok, John B.

AU - Kersaitis, Cindy

AU - Gregory, Gillian

AU - Shepherd, Claire E.

AU - Rahimi, Farid

AU - Schofield, Peter R.

AU - Kril, Jillian J.

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

KW - Alzheimer's disease

KW - dementia

KW - genetic aspects

KW - molecular aspects

KW - neurology

KW - presenile dementia

UR - http://handle.uws.edu.au:8081/1959.7/45781

M3 - Article

SN - 0364-5134

JO - Annals of Neurology

JF - Annals of Neurology

ER -

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

Abstract

Keywords

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