CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

Ashley Cannon; Matthew Baker; Brad Boeve; Keith Josephs; David Knopman; Ron Petersen; Joseph Parisi; Dennis Dickison; Jennifer Adamson; Julie Snowden; David Neary; David Mann; Mike Hutton; Stuart M. Pickering-Brown

doi:10.1016/j.neulet.2005.12.056

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

Ashley Cannon, Matthew Baker, Brad Boeve, Keith Josephs, David Knopman, Ron Petersen, Joseph Parisi, Dennis Dickison, Jennifer Adamson, Julie Snowden, David Neary, David Mann, Mike Hutton, Stuart M. Pickering-Brown

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

51 Scopus citations

Abstract

It was reported in 1995 that a large Danish family with familial frontotemporal dementia (FTD) was linked to the pericentromeric region of chromosome 3. It has since been claimed that a mutation in the splice acceptor site of exon 6 of CHMP2B is the pathogenic variant in this family. In order to determine whether CHMP2B mutations are a common cause of disease in patients with frontotemporal lobar degeneration (FTLD) we sequenced all exons and flanking regions of CHMP2B in 141 familial FTLD probands from the USA and UK. We failed to find a single pathogenic variant in any case. Polymorphisms were detected but were present in control samples. We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree.

Original language	English (US)
Pages (from-to)	83-84
Number of pages	2
Journal	Neuroscience Letters
Volume	398
Issue number	1-2
DOIs	https://doi.org/10.1016/j.neulet.2005.12.056
State	Published - May 1 2006

Keywords

CHMP2B
FTD
Frontotemporal lobar degeneration
Mutation

ASJC Scopus subject areas

Neuroscience(all)

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10.1016/j.neulet.2005.12.056

Cite this

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title = "CHMP2B mutations are not a common cause of frontotemporal lobar degeneration",

abstract = "It was reported in 1995 that a large Danish family with familial frontotemporal dementia (FTD) was linked to the pericentromeric region of chromosome 3. It has since been claimed that a mutation in the splice acceptor site of exon 6 of CHMP2B is the pathogenic variant in this family. In order to determine whether CHMP2B mutations are a common cause of disease in patients with frontotemporal lobar degeneration (FTLD) we sequenced all exons and flanking regions of CHMP2B in 141 familial FTLD probands from the USA and UK. We failed to find a single pathogenic variant in any case. Polymorphisms were detected but were present in control samples. We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree.",

keywords = "CHMP2B, FTD, Frontotemporal lobar degeneration, Mutation",

author = "Ashley Cannon and Matthew Baker and Brad Boeve and Keith Josephs and David Knopman and Ron Petersen and Joseph Parisi and Dennis Dickison and Jennifer Adamson and Julie Snowden and David Neary and David Mann and Mike Hutton and Pickering-Brown, {Stuart M.}",

note = "Funding Information: Funding for the work was provided by the Medical Research Council UK and Smith Foundation (to S.P.B.), the Mayo Clinic ADRC (P50 AG16574) and the Mayo Foundation (both to M.H.). We would also like to thank Drs. Mackenzie, Bigio, Gwinn-Hardy, Litvan, Nee and Reich for kindly supplying patient samples.",

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doi = "10.1016/j.neulet.2005.12.056",

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AU - Cannon, Ashley

AU - Baker, Matthew

AU - Boeve, Brad

AU - Josephs, Keith

AU - Knopman, David

AU - Petersen, Ron

AU - Parisi, Joseph

AU - Dickison, Dennis

AU - Adamson, Jennifer

AU - Snowden, Julie

AU - Neary, David

AU - Mann, David

AU - Hutton, Mike

AU - Pickering-Brown, Stuart M.

N1 - Funding Information: Funding for the work was provided by the Medical Research Council UK and Smith Foundation (to S.P.B.), the Mayo Clinic ADRC (P50 AG16574) and the Mayo Foundation (both to M.H.). We would also like to thank Drs. Mackenzie, Bigio, Gwinn-Hardy, Litvan, Nee and Reich for kindly supplying patient samples.

PY - 2006/5/1

Y1 - 2006/5/1

N2 - It was reported in 1995 that a large Danish family with familial frontotemporal dementia (FTD) was linked to the pericentromeric region of chromosome 3. It has since been claimed that a mutation in the splice acceptor site of exon 6 of CHMP2B is the pathogenic variant in this family. In order to determine whether CHMP2B mutations are a common cause of disease in patients with frontotemporal lobar degeneration (FTLD) we sequenced all exons and flanking regions of CHMP2B in 141 familial FTLD probands from the USA and UK. We failed to find a single pathogenic variant in any case. Polymorphisms were detected but were present in control samples. We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree.

AB - It was reported in 1995 that a large Danish family with familial frontotemporal dementia (FTD) was linked to the pericentromeric region of chromosome 3. It has since been claimed that a mutation in the splice acceptor site of exon 6 of CHMP2B is the pathogenic variant in this family. In order to determine whether CHMP2B mutations are a common cause of disease in patients with frontotemporal lobar degeneration (FTLD) we sequenced all exons and flanking regions of CHMP2B in 141 familial FTLD probands from the USA and UK. We failed to find a single pathogenic variant in any case. Polymorphisms were detected but were present in control samples. We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree.

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KW - Frontotemporal lobar degeneration

KW - Mutation

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CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

Abstract

Keywords

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