title: CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.
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.
authors.affiliation: Department of Human Genetics, Section Medical Genomics, VU University, Amsterdam, The Netherlands. p.rizzu@vumc.nl
authors.forename: Patrizia
authors.initials: P
authors.lastname: Rizzu
authors.forename: Saskia E
authors.initials: SE
authors.lastname: van Mil
authors.forename: Burcu
authors.initials: B
authors.lastname: Anar
authors.forename: Sonia M
authors.initials: SM
authors.lastname: Rosso
authors.forename: Laura
authors.initials: L
authors.lastname: Donker Kaat
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.forename: John C
authors.initials: JC
authors.lastname: van Swieten
mesh_terms: D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics*; D056827:Endosomal Sorting Complexes Required for Transport; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009426:Netherlands
chemical_list: C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins