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Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population
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نویسنده
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Shi Zhihong ,Liu Shuai ,Xiang Lei ,Wang Ying ,Liu Mengyuan ,Liu Shuling ,Han Tong ,Zhou Yuying ,Wang Jinhuan ,Cai Li ,Gao Shuo ,Ji Yong
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منبع
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journal of human genetics - 2016 - دوره : 61 - شماره : 12 - صفحه:1003 -1008
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چکیده
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Alzheimer’s disease (ad) and frontotemporal dementia (ftd) are two common forms of primary neurodegenerative dementia that show overlapping clinical symptoms. the aim of this study was to perform genetic analyses on grn, vcp, chmp2b, fus, tardbp, c9orf72 and mapt genes in chinese ad and ftd patients. we performed gene sequencing of the grn, vcp, chmp2b, fus, tardbp, mapt and c9orf72 genes in 61 clinical ad and 38 ftd chinese patients. we identified a known mutation of mapt (p.pro301leu, c.902c>t) in four patients from an autosomal dominant ftd family with behavioral variant ftd (bvftd) and progressive nonfluent aphasia (pnfa) phenotypes, and a novel mutation in mapt (p.leu48val, c.142 g>c) in a sporadic progressive supranuclear palsy patient. two novel variations in vcp (p.thr127ala, c. 379a>g; p.asn401ser, c.1202a>g) were present in both a sporadic ftd and an ad case, and a novel deletion in grn (560del p.leufs) was found in a sporadic primary progressive aphasia patient. mutations of vcp, grn and mapt genes are present in chinese ftd cases. in the case of the mapt mutation, the family presented with both bvftd and pnfa phenotypes, while the vcp mutation was also related to an early-onset ad phenotype.
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آدرس
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Tianjin Huanhu Hospital, Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, China, Tianjin Huanhu Hospital, Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, China, Tianjin Huanhu Hospital, Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, China, General Hospital of Tianjin Medical University, Department of PET-CT Diagnostic, China, Tianjin Huanhu Hospital, Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, China, Tianjin Huanhu Hospital, Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, China, Tianjin Huanhu Hospital, Department of Neuroradiology, China, Tianjin Huanhu Hospital, Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, China, Tianjin Huanhu Hospital, Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Department of Neurosurgery, China, General Hospital of Tianjin Medical University, Department of PET-CT Diagnostic, China, General Hospital of Tianjin Medical University, Department of PET-CT Diagnostic, China, Tianjin Huanhu Hospital, Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, China
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Authors
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