肌萎缩侧索硬化两家系的临床特征与SOD1基因突变  

Clinical features in two families with amytrophic lateral sclerosis caused by Cu/Zn superoxide dismutase gene mutations

作　　者：赵国华[1] 殷鑫浈[1] 吴鼎文[2] 毛善英[1] 尹厚民[1] 张宝荣[1] 

机构地区：[1]浙江大学医学院附属第二医院神经内科,杭州310009 [2]浙江大学医学院附属儿童医院新生儿筛查实验室,杭州310007

出　　处：《世界最新医学信息文摘》2012年第7期1-5,共5页World Latest Medicine Information Electronic Version

基　　金：高等学校博士学科点专项科研新教师基金（20070335049）

摘　　要：目的探讨两个家族性肌萎缩侧索硬化家系的临床特征和铜／锌超氧歧化酶（SOD1）基因突变。方法对两个家族性肌萎缩侧索硬化家系的临床资料进行回顾性分析，采用DNA直接序列分析方法对两个家系部分成员进行SOD1基因突变检测。结果家系A患者表现为快速进展的肢体肌无力、肌萎缩，病程在1年左右，突变检测发现SOD1基因20G→T突变，导致第6位编码子半胱氨酸被脯氨酸代替（Cys6Phe）；家系B患者的临床表现不一，部分患者表现为快速进展的肢体肌无力、肌萎缩，病程在1年左右，部分患者临床表现轻微，病程十余年，突变检测发现SOD1基因255G→C突变，导致84位亮氨酸被脯氨酸代替（Leu84Phe）突变。结论肌萎缩侧索硬化患者存在临床异质性，可能与SODl基因不同突变以及其他因素有关。Objective To investigate the clinical features and Cu/Zn superoxide dismutase （SOD1） gene mutations in two Mainland Chinese families with amyotropbic lateral sclerosis. Methods The clinical information of two families with amyotropbic lateral sclerosis was studied retrospectively and mutation analysis of the SOD1 gene was performed by DNA direct sequencing. Results Two reported mutations of the SOD1 gene, G20T （Cys6Phe） and G255C （Leu84Phe）, were identified and cosegregated with the disease in these two families. The patients in Family A with Cys6Phe mutation showed a rapid progression and severe clinical phenotypes. And the disease duration is about one year. Some patients in Family B with Leu84Phe mutation showed mild clinical features and the disease duration is more than ten years, while some cases showed sever phenotypes and the disease duration is about only one year. Conclusions Amyotropbic lateral sclerosis is a clinically heterogeneous disease, which might be caused by the different SOD1 gene mutations or other factors.

关 键 词：神经病学 肌萎缩侧索硬化 铜/锌超氧歧化酶 突变 

分 类 号：R743.3[医药卫生—神经病学与精神病学]