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

Authors: Skibinski, G  Parkinson, NJ  Brown, JM  Chakrabarti, L  Lloyd, SL  Hummerich, H  Nielsen, JE  Hodges, JR  Spillantini, MG  Thusgaard, T  Brandner, S  Brun, A  Rossor, MN  Gade, A  Johannsen, P  Sorensen, SA  Gydesen, S  Fisher, EM  Collinge, J 
Citation: Skibinski G, etal., Nat Genet. 2005 Aug;37(8):806-8. Epub 2005 Jul 24.
Pubmed: (View Article at PubMed) PMID:16041373
DOI: Full-text: DOI:10.1038/ng1609

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.


Disease Annotations
Objects Annotated

Additional Information

CRRD Object Information
CRRD ID: 5688398
Created: 2012-03-01
Species: All species
Last Modified: 2012-03-01
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.