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目的 :探讨家族性肌萎缩侧索硬化症患者及家系成员铜锌超氧化物歧化酶 (Cu/ Zn SOD)活性和丙二醛 (MDA)含量变化及家族性肌萎缩侧索硬化症 (FAL S)的临床分型。方法 :采用生物化学方法测定红细胞内 Cu/ Zn SOD活性及 MDA值。结果 :在 2个家系中发现 6例 Cu/ Zn SOD活性下降 ,3例 MDA含量增高。结论 :有 Cu/ Zn SOD活性下降的 2个家系临床分型可能为肌萎缩侧索硬化症 AL S 1型 ,MDA含量增高间接反映 Cu/ Zn SOD变化。红细胞内 Cu/ Zn SOD活性测定及 MDA含量测定有可能作为 AL S1型患者及基因携带者的诊断方法之一 ,并可用于 FAL S初步分型及基因检测前的筛查
Objective: To investigate the changes of copper / zinc superoxide dismutase (Cu / Zn SOD) and malondialdehyde (MDA) in patients with familial amyotrophic lateral sclerosis and family members and familial amyotrophic lateral sclerosis (FAL S ) Of the clinical classification. Methods: The activity of Cu / Zn SOD and MDA in erythrocytes were determined by biochemistry method. Results: Cu / Zn SOD activity was decreased in 6 cases and MDA content in 3 cases was increased in 2 pedigrees. CONCLUSION: The clinical classification of two families with decreased Cu / Zn SOD activity may be ALS type 1 with amyotrophic lateral sclerosis. The increase of MDA content indirectly reflects the change of Cu / Zn SOD. Determination of Cu / Zn SOD activity and determination of MDA content in erythrocytes may be one of the diagnostic methods for patients with AL S1 type and carriers of gene, and may be used for screening of pre-FAL S and pre-genetic screening