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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.    Electronic supplementary material  The online version of this article (10.1186/s40035-018-0136-6) contains supplementary material, which is available to authorized users.

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