Nature Genetics
37, 806 - 808 (2005)
Published online: 24 July 2005; | doi:10.1038/ng1609
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementiaGaia Skibinski1, Nicholas J Parkinson1, Jeremy M Brown2, Lisa Chakrabarti1, 12, Sarah L Lloyd1, Holger Hummerich1, Jørgen E Nielsen3, 4, John R Hodges5, Maria Grazia Spillantini6, Tove Thusgaard7, Sebastian Brandner1, 8, Arne Brun9, Martin N Rossor8, Anders Gade4, 10, Peter Johannsen4, Sven Asger Sørensen3, Susanne Gydesen11, Elizabeth MC Fisher8
& John Collinge1, 81
MRC Prion Unit, Institute of Neurology, University College London, London, UK. 2
Department of Neurology, Addenbrooke's Hospital, Cambridge, UK. 3
Department of Medical Biochemistry and Genetics, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Denmark. 4
Memory Disorders Research Unit, The Neuroscience Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. 5
MRC Cognition and Brain Sciences Unit, Department of Neurology, Addenbrooke's Hospital, Cambridge, UK. 6
Centre for Brain Repair, Department of Clinical Neurosciences, Cambridge University, Cambridge, UK. 7
Parkvaenget Nursing Home, Holstebro, Denmark. 8
Department of Neurodegenerative Disease, Institute of Neurology, University College London, UK. 9
Department of Pathology, University Hospital of Lund, Lund, Sweden. 10
Department of Psychology, University of Copenhagen, Rigshospitalet, Denmark. 11
Department of Psychiatry, Central Hospital, Holbaek, Denmark. 12
Present address: Department of Laboratory Medicine, University of Washington Medical Center, Seattle, Washington, USA.
Correspondence should be addressed to Elizabeth MC Fisher e.fisher@prion.ucl.ac.uk 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.
MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated.
|
