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- Title
Genetic variability in CHMP2B and frontotemporal dementia.
- Authors
Momeni, Parastoo; Rogaeva, Ekaterina; Van Deerlin, Vivianna; Yuan, Wuxing; Grafman, Jordan; Tierney, Michael; Huey, Edward; Bell, Jason; Morris, Chris M; Kalaria, Rajesh N; van Rensburg, Susan J; Niehaus, Dana; Potocnik, Felix; Kawarai, Toshitaka; Salehi-Rad, Shabnam; Sato, Christine; St George-Hyslop, Peter; Hardy, John
- 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.
- Publication
Neuro-degenerative diseases, 2006, Vol 3, Issue 3, p129
- ISSN
1660-2854
- Publication type
Journal Article
- DOI
10.1159/000094771