Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort

Bin Jiao; Qiying Sun; Zhenhua Yuan; Junling Wang; Lin Zhou; Xinxiang Yan; Beisha Tang; Lu Shen

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Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort

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Background:The TANK-Binding Kinase 1(TBK1)gene has recently been identified as the third or fourth most frequent cause of frontotemporal dementia(FTD)and amyotrophic lateral sclerosis(ALS).The aim of this study was to assess the genetic contribution of TBK1 in a Chinese cohort.Methods:A total of 270 cases with ALS,FTD,or their combination were recruited into this study.All the coding exons of TBK1 and intron-exon boundaries were sequenced using Sanger sequencing.The frequency of TBK1 variants and the correlation with clinical phenotypes were analyzed.Results:A novel mutation(c.1959_1960insGT,p.E653fs)was identified in a sporadic case with semantic dementia,secondarily developing ALS.Another novel variant(c.2063_2064delTT,p.L688Rfs*14)was found in an ALS-FTD family.Totally,the TBK1 variants could only account for 0.7% of cases.Conclusions:This study enlarges the genetic and phenotypic spectrum of TBK1 mutation in a Chinese cohort.Our data indicates that TBK1 mutation is not a common cause for ALS and FTD in Chinese patients.

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《转化神经变性病(英文)》 |2018年第1期|P.346-351|共6页
作者
Bin Jiao; Qiying Sun; Zhenhua Yuan; Junling Wang; Lin Zhou; Xinxiang Yan; Beisha Tang; Lu Shen;
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Department of Neurology Xiangya Hospital Central South University 87 Xiangya Rd Changsha 410008 ChinaNational Clinical Research Center for Geriatric Disorders Central South University Changsha ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders Central South University Changsha China;

National Clinical Research Center for Geriatric Disorders Central South University Changsha ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders Central South University Changsha ChinaDepartment of Geriatrics Neurology Xiangya Hospital Central South University Changsha China;

Department of Neurology Xiangya Hospital Central South University 87 Xiangya Rd Changsha 410008 China;

Department of Neurology Xiangya Hospital Central South University 87 Xiangya Rd Changsha 410008 ChinaNational Clinical Research Center for Geriatric Disorders Central South University Changsha ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders Central South University Changsha China;

National Clinical Research Center for Geriatric Disorders Central South University Changsha ChinaDepartment of Geriatrics Neurology Xiangya Hospital Central South University Changsha China;

Department of Neurology Xiangya Hospital Central South University 87 Xiangya Rd Changsha 410008 ChinaNational Clinical Research Center for Geriatric Disorders Central South University Changsha ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders Central South University Changsha China;

Department of Neurology Xiangya Hospital Central South University 87 Xiangya Rd Changsha 410008 ChinaNational Clinical Research Center for Geriatric Disorders Central South University Changsha ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders Central South University Changsha ChinaParkinson’s Disease Center of Beijing Institute for Brain Disorders Beijing ChinaCollaborative Innovation Center for Brain Science Shanghai ChinaCollaborative Innovation Center for Genetics and Development Shanghai China;

Department of Neurology Xiangya Hospital Central South University 87 Xiangya Rd Changsha 410008 ChinaNational Clinical Research Center for Geriatric Disorders Central South University Changsha ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders Central South University Changsha ChinaKey Laboratory of Organ Injury Aging and Regenerative Medicine of Hunan Province Changsha China;

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正文语种 chi
中图分类神经病学与精神病学;
关键词
Amyotrophic; lateral; sclerosis; Frontotemporal; dementia; TBK1; gene;

Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort

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