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
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Neurodegener Dis. 2006;3(3):129-33. doi: 10.1159/000094771.
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.
