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

G Skibinski, NJ Parkinson, JM Brown, L Chakrabarti, SL Lloyd, H Hummerich, JE Nielsen, JR Hodges, MG Spillantini, T Thusgaard, S Brandner, Arne Brun, MN Rossor, A Gade, P Johannsen, SA Sorensen, S Gydesen, EMC Fisher, J Collinge

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641 Citations (SciVal)


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.
Original languageEnglish
Pages (from-to)806-808
JournalNature Genetics
Issue number8
Publication statusPublished - 2005

Bibliographical note

The information about affiliations in this record was updated in December 2015.
The record was previously connected to the following departments: Pathology, (Lund) (013030000)

Subject classification (UKÄ)

  • Cancer and Oncology


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