title: Genetic variability in CHMP2B and frontotemporal dementia.
abstract: A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed.
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
authors.forename: Parastoo
authors.initials: P
authors.lastname: Momeni
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: Vivianna
authors.initials: V
authors.lastname: Van Deerlin
authors.forename: Wuxing
authors.initials: W
authors.lastname: Yuan
authors.forename: Jordan
authors.initials: J
authors.lastname: Grafman
authors.forename: Michael
authors.initials: M
authors.lastname: Tierney
authors.forename: Edward
authors.initials: E
authors.lastname: Huey
authors.forename: Jason
authors.initials: J
authors.lastname: Bell
authors.forename: Chris M
authors.initials: CM
authors.lastname: Morris
authors.forename: Rajesh N
authors.initials: RN
authors.lastname: Kalaria
authors.forename: Susan J
authors.initials: SJ
authors.lastname: van Rensburg
authors.forename: Dana
authors.initials: D
authors.lastname: Niehaus
authors.forename: Felix
authors.initials: F
authors.lastname: Potocnik
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Shabnam
authors.initials: S
authors.lastname: Salehi-Rad
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Peter
authors.initials: P
authors.lastname: St George-Hyslop
authors.forename: John
authors.initials: J
authors.lastname: Hardy
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D003704:Dementia / Q000235:genetics*; D056827:Endosomal Sorting Complexes Required for Transport; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins