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. 2006;3(3):129-33.
doi: 10.1159/000094771.

Genetic variability in CHMP2B and frontotemporal dementia

Parastoo Momeni  1 , Ekaterina Rogaeva, Vivianna Van Deerlin, Wuxing Yuan, Jordan Grafman, Michael Tierney, Edward Huey, Jason Bell, Chris M Morris, Rajesh N Kalaria, Susan J van Rensburg, Dana Niehaus, Felix Potocnik, Toshitaka Kawarai, Shabnam Salehi-Rad, Christine Sato, Peter St George-Hyslop, John Hardy
Affiliations

Genetic variability in CHMP2B and frontotemporal dementia

Parastoo Momeni et al. Neurodegener Dis. 2006.

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.

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