Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease affecting the upper and lower motor neurons. It is characterized by progressive muscle weakness, atrophy and ultimate death due to dysphagia and dyspnea. There are many causes of ALS, among which the genetic factors show great relevance. Imbalance of protein homeostasis in neurons, prion-like proliferation and propagation of abnormal proteins, mitochondrial dysfunction, glutamate mediated excitotoxicity, and intraneuronal substance transport disorders are recognized as the pathogenesis.The study on gene mutation related to pathogenesis will bridge the molecular and cellular research of ALS, which can deepen the understanding of the occurrence and development of ALS and the role of gene mutation in ALS, and provide new ideas and enlightenment for the treatment of ALS.
肌萎缩侧索硬化症(amyotrophic lateral sclerosis，ALS)是一种罕见的累及上、下运动神经元的神经退行性疾病，临床表现为肌肉进行性无力、萎缩，患者最终因吞咽、呼吸困难而死亡。ALS的病因众多，其中遗传因素相关性极大。神经元中蛋白质内稳态失衡、异常蛋白质的朊病毒样增殖和传播、线粒体功能障碍、谷氨酸介导的兴奋性毒性、神经元内物质运输障碍是目前公认的发病机制。对发病机制相关基因突变的研究将搭起ALS分子水平研究和细胞水平研究的桥梁，从而加深对ALS的发生和发展及基因突变在其中扮演角色的了解，并为疾病的治疗提供新的思路与启示。.
Keywords: amyotrophic lateral sclerosis; excitotoxicity; gene mutation; imbalance of protein homeostasis; mitochondrial dysfunction; prion-like proliferation and propagation; transport disorders.