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Genetic variability in CHMP2B and frontotemporal dementia

Lookup NU author(s): Dr Christopher Morris, Professor Raj KalariaORCiD

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Abstract

A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed. Copyright (c) 2006 S. Karger AG, Basel.

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Author(s): Momeni P, Rogaeva E, Van Deerlin V, Yuan WX, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, George-Hyslop PS, Hardy J

Publication type: Article

Publication status: Published

Journal: Neurodegenerative Diseases

Year: 2006

Volume: 3

Issue: 3

Pages: 129-133

ISSN (print): 1660-2854

ISSN (electronic): 1660-2862

Publisher: S. Karger AG

URL: http://dx.doi.org/10.1159/000094771

DOI: 10.1159/000094771

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