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Patients with classical ALS die of respiratory failure within 3–5 years of onset after the initial symptoms. Additionally, the rare missense variants in the hCG1-binding domain of GLE1 impairing the distribution of the hGle1B isoform at the nuclear pore complex (NPC) region may be involved in the pathogenesis of ALS.Īmyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease involving the upper and lower motor neurons of the spinal cord, brainstem, and cerebral cortex ( Robberecht and Philips, 2013 Brown and Al-Chalabi, 2017). The frequency of GLE1 LOF mutations was 0.16% (1/628) among Chinese sALS patients, implying that it is an uncommon genetic determinant of ALS in Chinese patients. In total, we identified seven rare GLE1 coding variants, including one novel nonsense mutation and six rare missense mutations in 628 ALS patients. All 16 exons and the flanking intron of GLE1 were screened by Sanger sequencing. A total of 628 ALS patients and 522 individuals without neurodegenerative disorders were enrolled in this study to explore the GLE1 gene contribution to ALS in the Chinese population. The LOF mutation-induced disruption of RNA metabolism through the haploinsufficiency mechanism is implicated in ALS pathogenesis. (2015) first carried out a large-scale sequencing study in ALS patients and identified two loss-of-function (LOF) variants in the GLE1 gene. At least 30 genes have been implicated in familial ALS (fALS) and sporadic ALS (sALS). 3Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, ChinaĪmyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease involving the upper and lower motor neurons of the spinal cord, brainstem, and cerebral cortex.2Geriatric Neurological Department of the Second Medical Center, National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China.1Neurological Department of the First Medical Center, Chinese PLA General Hospital, Beijing, China.Yanran Li 1†, Bo Sun 2†, Zhanjun Wang 3, Zhengqing He 1, Fei Yang 1, Hongfen Wang 1, Fang Cui 1, Zhaohui Chen 1, Li Ling 1, Chaodong Wang 3* and Xusheng Huang 1*