Access

Brief Communication

Nature Genetics 37, 806–808 (1 August 2005) | doi:10.1038/ng1609

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Gaia Skibinski , Nicholas J Parkinson , Jeremy M Brown , Lisa Chakrabarti , Sarah L Lloyd , Holger Hummerich , J|[oslash]|rgen E Nielsen , John R Hodges , Maria Grazia Spillantini , Tove Thusgaard , Sebastian Brandner , Arne Brun , Martin N Rossor , Anders Gade , Peter Johannsen , Sven Asger S|[oslash]|rensen , Susanne Gydesen , Elizabeth MC Fisher & John Collinge

We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family.