应关注基因检测对肌萎缩侧索硬化临床实践的重要性  

Attention should be paid to the importance of genetic testing in clinical practice of amyotrophic lateral sclerosis

作　　者：李晓光[1] 刘明生[1] 崔丽英[1] Li Xiaoguang;Liu Mingsheng;Cui Liying(Department of Neurology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院神经科,北京100730

出　　处：《中华医学杂志》2023年第39期3071-3076,共6页National Medical Journal of China

基　　金：国家自然科学基金(81750002);吴阶平医学基金会临床科研专项(320675017092);中国医学科学院医学与健康科技创新工程(2021I2MC&TA003);北京亦城合作发展基金会科研项目(YJXJJZ2021001406)

摘　　要：肌萎缩侧索硬化(ALS)是一种主要累及上下运动神经元的进行性致命性神经系统变性病,缺乏明确的生物标志物,通常在发病一年半以后才可明确诊断。基因检测对确定诊断、判断预后、遗传咨询等有重要意义。近期来数个基因治疗研究进入ALS临床试验阶段,其中针对过氧化物歧化酶1(SOD1)基因致病性变异的反义寡核苷酸治疗已上市,迫切需要在临床实践常规开展基因检测。随着近年ALS基因研究的不断深入,不再将患者有没有家族史、发病年龄及临床表现是否典型作为进行基因检测的依据。但临床基因检测的目标基因需要根据诊断目的进一步明确,检测方法和方案需要标准化,要重视检测前的遗传咨询,充分做到知情同意。Amyotrophic lateral sclerosis(ALS)is a progressive and fatal neurodegenerative disease that mainly involves upper and lower motor neurons.It lacks clear biomarkers and can be clearly diagnosed only one and a half years after the onset.Gene test is of great significance for diagnosis,prognosis and genetic counseling.In recent years,several gene therapy studies have entered the clinical trial stage of ALS,among which the antisense oligonucleotide therapy targeting the pathogenic variation of the superoxide dismutase 1(SOD1)gene has been launched,and it is urgent to carry out routine gene test in clinical practice.On the basis of progress of ALS gene research in recent years,family history,age of onset and typical clinical manifestations of patients are no longer considered as the basis for genetic testing.However,the target genes of clinical gene testing needs to be further clarified according to the diagnostic purpose,the testing method and scheme need to be standardized,and the genetic consultation before testing should be paid attention to,and the informed consent should be fully achieved.

关 键 词：肌萎缩侧索硬化 基因检测 基因治疗 

分 类 号：R744.8[医药卫生—神经病学与精神病学]