Mutations in progranulin explain atypical phenotypes with variants in MAPT

Stuart M. Pickering-Brown; Matt Baker; Jenny Gass; Bradley F. Boeve; Clement T. Loy; William S. Brooks; Ian R.A. Mackenzie; Ralph N. Martins; John B.J. Kwok; Glenda M. Halliday; Jillian Kril; Peter R. Schofield; David M.A. Mann; Mike Hutton

doi:10.1093/brain/awl289

Mutations in progranulin explain atypical phenotypes with variants in MAPT

Stuart M. Pickering-Brown, Matt Baker, Jenny Gass, Bradley F. Boeve, Clement T. Loy, William S. Brooks, Ian R.A. Mackenzie, Ralph N. Martins, John B.J. Kwok, Glenda M. Halliday, Jillian Kril, Peter R. Schofield, David M.A. Mann, Mike Hutton

Neurology

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

85 Scopus citations

Abstract

Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). However, there have been reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-negative inclusion pathology. Here, we demonstrate that the MAPT variants are almost certainly rare benign polymorphisms as all of these cases harbour mutations in Progranulin (PGRN). Mutations in PGRN were recently shown to cause ubiquitin-positive FTDP-17.

Original language	English (US)
Pages (from-to)	3124-3126
Number of pages	3
Journal	Brain
Volume	129
Issue number	11
DOIs	https://doi.org/10.1093/brain/awl289
State	Published - Nov 2006

Keywords

FTLD-U
Frontotemporal dementia
MAPT
Progranulin

ASJC Scopus subject areas

Clinical Neurology

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10.1093/brain/awl289

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@article{5f1c53ad24074a50a1d36cfaa0b476d2,

title = "Mutations in progranulin explain atypical phenotypes with variants in MAPT",

abstract = "Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). However, there have been reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-negative inclusion pathology. Here, we demonstrate that the MAPT variants are almost certainly rare benign polymorphisms as all of these cases harbour mutations in Progranulin (PGRN). Mutations in PGRN were recently shown to cause ubiquitin-positive FTDP-17.",

keywords = "FTLD-U, Frontotemporal dementia, MAPT, Progranulin",

author = "Pickering-Brown, {Stuart M.} and Matt Baker and Jenny Gass and Boeve, {Bradley F.} and Loy, {Clement T.} and Brooks, {William S.} and Mackenzie, {Ian R.A.} and Martins, {Ralph N.} and Kwok, {John B.J.} and Halliday, {Glenda M.} and Jillian Kril and Schofield, {Peter R.} and Mann, {David M.A.} and Mike Hutton",

note = "Funding Information: This work is supported by a Medical Research Council NIA Fellowship to S.P.B. and by NIA grant AG16574 and the Robert H. and Clarice Smith and Abigail Van Buren Alzheimer{\textquoteright}s Disease Research Program of the Mayo Foundation.",

year = "2006",

month = nov,

doi = "10.1093/brain/awl289",

language = "English (US)",

volume = "129",

pages = "3124--3126",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

number = "11",

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TY - JOUR

T1 - Mutations in progranulin explain atypical phenotypes with variants in MAPT

AU - Pickering-Brown, Stuart M.

AU - Baker, Matt

AU - Gass, Jenny

AU - Boeve, Bradley F.

AU - Loy, Clement T.

AU - Brooks, William S.

AU - Mackenzie, Ian R.A.

AU - Martins, Ralph N.

AU - Kwok, John B.J.

AU - Halliday, Glenda M.

AU - Kril, Jillian

AU - Schofield, Peter R.

AU - Mann, David M.A.

AU - Hutton, Mike

N1 - Funding Information: This work is supported by a Medical Research Council NIA Fellowship to S.P.B. and by NIA grant AG16574 and the Robert H. and Clarice Smith and Abigail Van Buren Alzheimer’s Disease Research Program of the Mayo Foundation.

PY - 2006/11

Y1 - 2006/11

N2 - Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). However, there have been reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-negative inclusion pathology. Here, we demonstrate that the MAPT variants are almost certainly rare benign polymorphisms as all of these cases harbour mutations in Progranulin (PGRN). Mutations in PGRN were recently shown to cause ubiquitin-positive FTDP-17.

AB - Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). However, there have been reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-negative inclusion pathology. Here, we demonstrate that the MAPT variants are almost certainly rare benign polymorphisms as all of these cases harbour mutations in Progranulin (PGRN). Mutations in PGRN were recently shown to cause ubiquitin-positive FTDP-17.

KW - FTLD-U

KW - Frontotemporal dementia

KW - MAPT

KW - Progranulin

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U2 - 10.1093/brain/awl289

DO - 10.1093/brain/awl289

M3 - Article

C2 - 17071927

AN - SCOPUS:33750596714

SN - 0006-8950

VL - 129

SP - 3124

EP - 3126

JO - Brain

JF - Brain

IS - 11

ER -

Mutations in progranulin explain atypical phenotypes with variants in MAPT

Abstract

Keywords

ASJC Scopus subject areas

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