家族性ALS的临床特征及基因分析  

Clinical characteristics and gene analysis of a familial amyotrophic lateral sclerosis

作　　者：席静[1] 张成[1] 卢锡林[1] 谢有梅[1] 李洵华[1] 李宝琴[1] 黄慧[1] 

机构地区：[1]中山大学附属第一医院神经科

出　　处：《中风与神经疾病杂志》2006年第1期41-43,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨肌萎缩侧索硬化症(ALS)家系的临床特点及SOD1基因突变规律。方法详细分析一个FALS大家系的临床特征、肌电图改变、遗传方式,用PCR-SSCP法检测SOD1基因的突变。结果该家系有6代、237人,其中13人患病,8人死于ALS,具典型ALS症状,但起病前有较长一段时间肌肉纤颤期。PCR-SSCP法检测SOD1基因未发现突变,为非SOD1基因突变的ALS家系。结论(1)对于家族性肌跳的患者,宜动态观察其肌电图的改变,注重临床随访;(2)该家系可能存在一个非SOD1基因的、新的FALS致病基因。Objective To investigate the clinical characteristics of a big familial amyotrophic lateral sclerosis pedigree （FAIRS） and Chinese FAIRS and sporadic ALS（SALS） patients. Methods To collect the clinical data of this pedigree and compare familial and sporadic ALS in China and western ALS report. Results In this pedigree, there are 13 people showed typical ALS symptoms,8 died of this disease,but most of them present raring period of fasciculation before onset. Clinically,Chinese FALS patients＇s symptoms are similar to western＇s ,but fasciculation is more common. With regard to SALS patients,the male ：female ratio is higher,the age of onset is earlier and fasciculation is more common. Conclusion The AIrS patients in this family might be caused by a new ALS gene.

关 键 词：家族性肌萎缩侧索硬化症 临床特征 基因 

分 类 号：R744.8[医药卫生—神经病学与精神病学]