Article
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Dec 2006
Rizzu Patrizia, van Mil Saskia E, Anar Burcu, Rosso Sonia M, Donker Kaat Laura, Heutink Peter, van Swieten John C
Abstract excerpt
Mutations in the CHMP2B gene have been recently identified in a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). We report the frequency of CHMP2B mutations in 162 FTD patients recruited from a large population-based study of FTD carried out in The Netherlands. Our results suggest that mutations in CHMP2B are a rare cause of FTD as compared to MAPT mutations.
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