Genetic variability in CHMP2B and frontotemporal dementia

  • Momeni P
  • Rogaeva E
  • Van Deerlin V
 et al. 
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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.

Author-supplied keywords

  • CHMP2B
  • Chromosome 3
  • Frontotemporal dementia
  • MAPT

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