TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)
نویسندگان
چکیده
منابع مشابه
Chromosome 3 linked frontotemporal dementia (FTD-3).
BACKGROUND The authors have identified and studied a large kindred in which frontotemporal dementia (FTD) is inherited as an autosomal dominant trait. The trait has been mapped to the pericentromeric region of chromosome 3. METHODS The authors report on the clinical, neuroimaging, neuropsychological, and pathologic features in this unique pedigree collected during 17 years of study. RESULTS...
متن کاملFrontotemporal Dementia ( Ftd ) 2011
Arnold Pick’s description of lobar atrophy with progressive aphasia, apraxia and behavioural disturbance has been renamed Frontotemporal Dementia (FTD). A significant expansion of knowledge has occurred in the last few years, especially in the molecular biology of FTD, which is estimated to account for 12-15% of all dementias and 30-50% of early onset cases. The clinical picture consists mainly...
متن کاملThe role of CHMP2B in frontotemporal dementia.
Mutations in the CHMP2B (charged multivesicular body protein 2B) gene that lead to C-terminal truncations of the protein can cause frontotemporal dementia. CHMP2B is a member of ESCRT-III (endosomal sorting complex required for transport III), which is required for formation of the multivesicular body, a late endosomal structure that fuses with the lysosome to degrade endocytosed proteins. Over...
متن کاملPresymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI
OBJECTIVES To assess functional changes measured by cerebral blood flow (CBF) in the presymptomatic stage of frontotemporal dementia linked to chromosome 3 (FTD-3) caused by a truncating mutation in CHMP2B. DESIGN Case-control study. SETTING A memory clinic and tertiary referrals centre for dementia and inherited neurodegenerative disorders. PARTICIPANTS The authors included 11 presymptom...
متن کاملFrontotemporal Dementia Caused by CHMP2B Mutations
CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advan...
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ژورنال
عنوان ژورنال: Neurobiology of Aging
سال: 2017
ISSN: 0197-4580
DOI: 10.1016/j.neurobiolaging.2017.06.026