CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia

Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):944-6. doi: 10.1002/ajmg.b.30410.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Dementia / genetics*
  • Endosomal Sorting Complexes Required for Transport
  • Female
  • Gene Frequency
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Netherlands

Substances

  • CHMP2B protein, human
  • Endosomal Sorting Complexes Required for Transport
  • Nerve Tissue Proteins