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

55 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.\}",

year = "2005",

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doi = "10.1002/ana.20366",

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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.

UR - https://www.scopus.com/pages/publications/19944428327

U2 - 10.1002/ana.20366

DO - 10.1002/ana.20366

M3 - Article

SN - 0364-5134

VL - 57

SP - 139

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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