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Genetic Variability in CHMP2B and Frontotemporal Dementia

Momeni P.a · Rogaeva E.b · van Deerlin V.c · Yuan W.c · Grafman J.d · Tierney M.d · Huey E.d · Bell J.a · Morris C.M.e, f · Kalaria R.N.e · van Rensburg S.J.g · Niehaus D.g · Potocnik F.g · Kawarai T.b · Salehi-Rad S.b · Sato C.b · St. George-Hyslop P.b · Hardy J.a
aLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Md., USA; bCentre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada; cCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pa., dCognitive Neuroscience Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md., USA; eInstitute for Health and Ageing, Newcastle General Hospital, fHealth Protection Agency, Chemical Hazards and Poisons Division, Wolfson Unit of Chemical Pharmacology, Newcastle upon Tyne, UK; gDepartment of Psychiatry, University of Stellenbosch, Tygerberg, South Africa Neurodegenerative Dis 2006;3:129–133 (DOI:10.1159/000094771)


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.


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