肌萎缩侧索硬化是一种成年起病、选择性侵犯运动神经元的神经系统慢性进展性变性疾病。约90%的患者为散发性,病因及发病机制尚未完全清楚,目前研究认为是多因素包括遗传因素和环境因素共同作用的结果。尽管目前未发现某一个单独的基因可导致散发性肌萎缩侧索硬化的发生,但近年随着全基因组关联研究方法的采用,发现了部分基因与之相关。现就近来散发性肌萎缩侧索硬化的分子遗传学研究进展作一综述。 Amyotrophic lateral sclerosis is a chronic progressive degenerative disease of the nervous system that attacks adult motor neurons in adults. About 90% of patients are sporadic, etiology and pathogenesis are not yet fully understood, the current study that is the result of multiple factors, including genetic factors and environmental factors together. Although no single gene has been found to cause sporadic amyotrophic lateral sclerosis, some genes have been found to be associated with genome-wide association studies in recent years. Now on the recent sporadic amyotrophic lateral sclerosis molecular genetics research is reviewed.