title: Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
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.
authors.affiliation: MRC Prion Unit, Institute of Neurology, University College London, London, UK.
authors.forename: Gaia
authors.initials: G
authors.lastname: Skibinski
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Parkinson
authors.forename: Jeremy M
authors.initials: JM
authors.lastname: Brown
authors.forename: Lisa
authors.initials: L
authors.lastname: Chakrabarti
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Lloyd
authors.forename: Holger
authors.initials: H
authors.lastname: Hummerich
authors.forename: Jørgen E
authors.initials: JE
authors.lastname: Nielsen
authors.forename: John R
authors.initials: JR
authors.lastname: Hodges
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Spillantini
authors.forename: Tove
authors.initials: T
authors.lastname: Thusgaard
authors.forename: Sebastian
authors.initials: S
authors.lastname: Brandner
authors.forename: Arne
authors.initials: A
authors.lastname: Brun
authors.forename: Martin N
authors.initials: MN
authors.lastname: Rossor
authors.forename: Anders
authors.initials: A
authors.lastname: Gade
authors.forename: Peter
authors.initials: P
authors.lastname: Johannsen
authors.forename: Sven Asger
authors.initials: SA
authors.lastname: Sørensen
authors.forename: Susanne
authors.initials: S
authors.lastname: Gydesen
authors.forename: Elizabeth M C
authors.initials: EM
authors.lastname: Fisher
authors.forename: John
authors.initials: J
authors.lastname: Collinge
mesh_terms: D003704:Dementia / Q000235:genetics*; D056827:Endosomal Sorting Complexes Required for Transport; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012326:RNA Splicing
chemical_list: C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins