This study includes three aspects:(1) we have reported some novel or rare mutations of SOD1(Cu/Zn superoxide dismutase) gene in Chinese families of ALS/MND,and found quite different features from Western patients in polymorphisms with some candidate genes such as vascular endothelial growth factor(VEGF) in sporadic ALS/MND in China.Meanwhile,we have so for established a complete clinical database with more than 1 200 cases;(2) we have established some neurophysiologic techniques of diagnosis and differential diagnosis at early-stage for ALS/MND,which include trigemino-cervical response,sternocleidomastoid and rectus electromyography,contact heat evoked potentials,and motor unit number estimate;(3) we have attempted some experimental and clinical treatments for ALS/MND,which include gene and stem cell therapies in animal models,and a pilot clinical trial of granulocyte colony stimulating factor(G-CSF) for ALS/MND patients(NCT00397423).Abstract:SUMM ARY This study includes three aspects:(1) we have reported some novel or rare mutations of SOD1(Cu /Zn superoxide d ismutase) gene in Chinese fam ilies ofALS /MND,and found quite d ifferent features from W estern patients in polymorphisms with some cand idate genes such as vascular endothelial growth factor(VEGF) in sporad ic ALS /MND in China.Meanwhile,we have so for established a com-plete clinical database with more than 1 200 cases;(2) we have established some neurophysiologic tech-niques of d iagnosis and d ifferential d iagnosis at early-stage forALS /MND,which include trigem ino-cervi-cal response,sternocleidomastoid and rectus electromyography,contact heat evoked potentials,and motor unit number estimate;(3) we have attempted some experimental and clinical treatments forALS /MND,which include gene and stem cell therapies in animalmodels,and a pilot clinical trial of granulocyte colo-ny stimulating factor(G-CSF) forALS /MND patients(NCT00397423).
目的探讨血浆同型半胱氨酸（Hey）水平与肌萎缩侧索硬化症（ALS）间的关系。方法分别检N150例确诊或拟诊的ALS患者和137例年龄、性别匹配的健康体检者的血叶酸，维生素B12和Hcy水平，比较两组间的差异。结果ALS患者血Hey水平较对照组明显增高[（18．47±13．09）μmol／L比（11．91±5．37）μmol／L，P〈0．001]，而血叶酸水平显著降低[（8．39±4．45）μg/L比（10．38±5．01）μg/L，P〈0．001]。logistic回归显示血Hcy水平与ALS相关，是重要的危险因素；同样发现诊断间期（Interval from sympt omonset to diagnosis，ODI）少于19个月的患者较超过19个月的患者血浆Hcy水平明显增高[（20．73±15．79）μmol／L比（16．41±9．73）μmol／L，P=0．035]。结论ALS患者血浆Hcy水平较健康对照明显增高，血Hey水平和诊断间期相关预示血浆Hcy水平可能与病程进展速度有关。
