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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doi.org/10.1002/ajmg.b.30410, hdl.handle.net/1765/70935
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
Department of Neurology

Rizzu, P., van Mil, S., Anar, B., Rosso, S., Donker Kaat, L., Heutink, P., & van Swieten, J. (2006). 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, 141(8), 944–946. doi:10.1002/ajmg.b.30410