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背景:不同的铜/锌超氧化物歧化酶(Copper/Zincsuperoxidedismutase,Cu/ZnSOD)基因突变会使家族性肌萎缩侧索硬化(familyamyotropbiclateralsclerosis,FALS)产生不同的临床特征;丙二醛是过氧化脂降解的中间产物,可间接反映Cu/ZnSOD的活性,但Cu/ZnSOD活性及丙二醛水平改变与FALS临床分型之间的关系尚不明确。若能探明前两者与后者的关系,将有助于FALS的临床分型及亚临床诊断。目的:探讨家族性肌萎缩侧索硬化症患者及家系成员Cu/ZnSOD活性和丙二醛水平变化及FALS的临床分型。设计:随机病例对照研究。地点和对象:1998-09/1999-06共检测7个家系的32名成员,其中3例先证者经中山医科大学第一附属院神经内科确诊(1995年);4例经广西医科大学附属第一医院神经内科确诊(1997～1999年)。将32名成员分为4组:汉族血统中有临床表现或有肌电图异常者归为第1组(共10例);各项检查均正常者的为第2组(共17例)。壮族血统家系中有临床表现或肌电图异常者归为第3组(共3例);无临床表现、各项检查均正常者归为第4组(共2例)。72例对照组(第5组)均来自1999-01/1999-12到我院健康体检自愿者,其中男38例,女34例,年龄15～59岁,平均38.2岁。方法:采用生物化学方法测定红细胞内Cu/ZnSOD活性及丙二醛水平。主要观察指标:外周血SOD活性及丙
BACKGROUND: Different Cu / ZnSOD gene mutations lead to different clinical features of familial amyotrophic lateral sclerosis (FALS). Malondialdehyde (MDA) is a lipid peroxidase Degradation of intermediates, indirect reflection of Cu / ZnSOD activity, but Cu / ZnSOD activity and the level of malondialdehyde and FALS clinical classification of the relationship between the remains unclear. If you can find out the relationship between the former two and the latter, will contribute to the FALS clinical classification and subclinical diagnosis. Objective: To investigate the changes of Cu / ZnSOD activity and malondialdehyde level in patients with familial amyotrophic lateral sclerosis and their family members and the clinical classification of FALS. Design: Randomized case-control study. Location and Subjects: A total of 32 members of 7 pedigrees were detected from September 1998 to June 1999, of which 3 probands were confirmed by Department of Neurology, the First Affiliated Hospital of Zhongshan Medical University (1995), and 4 patients were confirmed by the affiliated hospital of Guangxi Medical University First Hospital neurology diagnosis (1997 ~ 1999). The 32 members were divided into 4 groups: those with clinical manifestations or EMG abnormalities in Han ethnic origin were grouped into group 1 (10 cases in total); Group 2 (17 cases) with normal examination. Zhuang pedigrees of clinical manifestations or EMG abnormalities were classified as group 3 (3 cases); no clinical manifestations, the tests were normal group 4 (a total of 2 cases). 72 cases of control group (Group 5) were from January 1999 to December 1999 in our hospital for physical examination volunteers, including 38 males and 34 females, aged 15 to 59 years, mean 38.2 years. Methods: The activity of Cu / ZnSOD and the level of malondialdehyde in erythrocytes were determined by biochemical methods. MAIN OUTCOME MEASURES: SOD activity in peripheral blood and C