肌萎缩侧索硬化相关基因及临床特点的研究进展

ALS: Recent development from genetic and clinical study

肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是一组以选择性上、下运动神经元损害为特征的致死性神经变性疾病,患者多在3~5年发展为呼吸衰竭死亡。本文对国内外关于ALS相关基因及临床特点、基因型-表型用于临床诊断、基因研究新进展以及基因治疗进行综述。

Amyotrophic lateral sclerosis （ALS） is a chronic progressive neurodegenerative disease affecting both the upper and lower motor neurons,which leads to paralysis and muscle atrophy of patients. This article reviews the relationship between different genotypes and clinical features of ALS based on to date studies.