Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant.
Yu-Shuen TsaiKon-Ping LinKang-Yang JihPei-Chien TsaiYi-Chu LiaoYi-Chung LeePublished in: Annals of clinical and translational neurology (2020)
Our study supports the pathogenic role of NEK1 LOF variants and demonstrates their spectrum and clinical features in a Taiwanese cohort with ALS.