In this study, we screened a Chinese cohort of 270 cases with ALS, FTD, FTD-ALS (or ALS-FTD) for TBK1 mutations and identified two novel frame-shift TBK1 mutations (p.E653fs and p.L688Rfs*14) in a sporadic case with SD-ALS and an ALS-FTD family respectively, accounting for 0.7% of total cases, which were consistent with the recent Asian population studies from Taiwan (0.5%; 1/207 ALS) and China (0.7%; 2/294 ALS) [17, 18], although they were significantly lower than European cohorts, such as Italian (3.2%; 5/154 ALS) and Belgian (1.7% 11/629 ALS, FTD, FTD-ALS) [19, 20]. The gene discussed is TBK1; the disease is amyotrophic lateral sclerosis.