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

doi:10.1002/ana.20366

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

53 Citations (Scopus)

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
Pages (from-to)	139-143
Number of pages	5
Journal	Annals of Neurology
Volume	57
Issue number	1
DOIs	https://doi.org/10.1002/ana.20366
Publication status	Published - Jan 2005
Externally published	Yes

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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.",

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.}",

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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 - 2005/1

Y1 - 2005/1

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.

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U2 - 10.1002/ana.20366

DO - 10.1002/ana.20366

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VL - 57

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EP - 143

JO - Annals of Neurology

JF - Annals of Neurology

IS - 1

ER -

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

Abstract

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