Genetic variability in CHMP2B and frontotemporal dementia.
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.
Momeni
Parastoo
P
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Rogaeva
Ekaterina
E
Van Deerlin
Vivianna
V
Yuan
Wuxing
W
Grafman
Jordan
J
Tierney
Michael
M
Huey
Edward
E
Bell
Jason
J
Morris
Chris M
CM
Kalaria
Rajesh N
RN
van Rensburg
Susan J
SJ
Niehaus
Dana
D
Potocnik
Felix
F
Kawarai
Toshitaka
T
Salehi-Rad
Shabnam
S
Sato
Christine
C
St George-Hyslop
Peter
P
Hardy
John
J
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
C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins