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Neurodegener Dis. 2006;3(3):129-33.

Genetic variability in CHMP2B and frontotemporal dementia.

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  • 1Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.

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.

PMID:
16954699
[PubMed - indexed for MEDLINE]
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