CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.
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.
Rizzu
Patrizia
P
Department of Human Genetics, Section Medical Genomics, VU University, Amsterdam, The Netherlands. p.rizzu@vumc.nl
van Mil
Saskia E
SE
Anar
Burcu
B
Rosso
Sonia M
SM
Donker Kaat
Laura
L
Heutink
Peter
P
van Swieten
John C
JC
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
C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins