肌萎缩侧索硬化/运动神经元病的基础与临床研究  

Basic and clinical researches on amyotrophic lateral sclerosis/motor neuron disease

作　　者：樊东升[1] 张俊[1] 邓敏[1] 康德瑄[1] 郑菊阳[1] 徐迎胜[1] 鲁明[1] 傅瑜[1] 沈扬[1] 张英爽[1] 张华纲[1] 

机构地区：[1]北京大学第三医院神经内科,北京100191

出　　处：《北京大学学报（医学版）》2009年第3期279-281,共3页Journal of Peking University:Health Sciences

基　　金：国家高技术研究发展计划专项经费(2001AA217161-2);国家自然科学基金(30740049;30700906;30700239;30672203);北京市自然科学基金(7082099);北京市教育委员会产学研合作项目(SJW07-17-01)资助~~

摘　　要：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).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）.

关 键 词：肌萎缩侧索硬化 运动神经元病 超氧化物歧化酶 肌电描记术 粒细胞集落刺激因子 

分 类 号：R744.8[医药卫生—神经病学与精神病学]