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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia |
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| Authors: | Skibinski Gaia Parkinson Nicholas J Brown Jeremy M Chakrabarti Lisa Lloyd Sarah L Hummerich Holger Nielsen Jørgen E Hodges John R Spillantini Maria Grazia Thusgaard Tove Brandner Sebastian Brun Arne Rossor Martin N Gade Anders Johannsen Peter Sørensen Sven Asger Gydesen Susanne Fisher Elizabeth M C Collinge John |
| Affiliation: | MRC Prion Unit, Institute of Neurology, University College London, London, UK. |
| 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. |
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