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

Nature genetics | Aug 28, 2005

http://www.ncbi.nlm.nih.gov/pubmed/16041373

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.

Pubmed ID: 16041373 RIS Download

Mesh terms: Dementia | Endosomal Sorting Complexes Required for Transport | Humans | Mutation | Mutation, Missense | Nerve Tissue Proteins | Pedigree | RNA Splicing

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