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

  • Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609.
Gaia Skibinski  1 ,  Nicholas J Parkinson ,  Jeremy M Brown ,  Lisa Chakrabarti ,  Sarah L Lloyd ,  Holger Hummerich ,  Jørgen E Nielsen ,  John R Hodges ,  Maria Grazia Spillantini ,  Tove Thusgaard ,  Sebastian Brandner ,  Arne Brun ,  Martin N Rossor ,  Anders Gade ,  Peter Johannsen ,  Sven Asger Sørensen ,  Susanne Gydesen ,  Elizabeth M C Fisher ,  John Collinge
Affiliations
  • 1. MRC Prion Unit, Institute of Neurology, University College London, London, UK.
PMID: 16041373 DOI: 10.1038/ng1609
Abstract

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. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and Neurodegenerative Disease.