肌萎缩性侧索硬化的研究进展

Research Progress of Amyotrophic Lateral Sclerosis

肌萎缩侧索硬化(ALS)是临床最常见的运动神经元病,其被认为是最具破坏性的成年发病的神经变性疾病。ALS特征在于上运动神经元和下运动神经元同时受累,临床表现为肌无力和萎缩、延髓麻痹及锥体束征,大部分患者的平均生存时间为2~4年。ALS的发病可能与遗传和基因突变相关,超氧化物歧化酶1是最常见的突变基因。目前有3种关于ALS发病机制的假说,但其均不能单独解释ALS的整个发病过程。ALS的确诊主要依赖临床表现及神经电生理检查结果,而利鲁唑是唯一一种国际承认的对ALS有治疗作用的药物。

Amyotrophic lateral sclerosis(ALS)is the most common motor neuron disease in clinical and is considered to be the most destructive adult-onset neurodegenerative disease.ALS is characterized by both upper motor neurons and lower motor neurons being involved.Clinical manifestations include muscle weakness and atrophy,bulbar palsy,and pyramidal tract signs.The average survival time of most patients is 2 to 4 years.The onset of ALS may be related to genetics and genetic mutations,and superoxide dismutase 1 is the most common mutated gene.There are currently three hypotheses about the pathogenesis of ALS,but none of them alone can explain the entire pathogenesis of ALS.The diagnosis of ALS mainly depends on clinical manifestations and results of neurophysiological examinations,and Riluzole is the only internationally recognized drug that has a therapeutic effect on ALS.