肌萎缩侧索硬化基因型和表型研究进展

Genotype-phenotype correlations in amyotrophic lateral sclerosis

肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是一种累及上下运动神经元系统的致残性致死性神经系统变性疾病。目前,ALS发病机制不明。虽然大部分是散发病例,但10%~15%的患者具有家族史,已有超过40个基因被认为与ALS发病相关,针对致病基因进行靶向治疗的临床试验,为ALS患者的治疗带来了极大希望,也强调了临床实践中识别遗传性ALS的必要性,因此本文将重点介绍遗传性ALS基因型与表型特征,从而为ALS的临床诊疗提供参考。

Amyotrophic lateral sclerosis(ALS)is a devastating and incurable disease characterized by the progressive degeneration of upper and lower motor neurons.The etiology of ALS remains unclear.While the majority of ALS cases occur sporadically,approximately 10%to 15%of patients have a familial history of the disease.More than 40 genes have been identified to be associated with ALS,presenting plausible mechanisms and potential therapeutic targets for ALS.This emphasizes the crucial importance of recognizing and understanding familial ALS in clinical practice.Accordingly,this article will focus on elucidating the genetic and phenotypic characteristics of ALS,providing valuable insights for the clinical diagnosis and treatment of this condition.