| Literature DB >> 16954699 |
Parastoo Momeni1, 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.
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.Entities:
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Year: 2006 PMID： 16954699 DOI： 10.1159/000094771
Source DB: PubMed Journal: Neurodegener Dis ISSN： 1660-2854 Impact factor: 2.977