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 p...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).展开更多
目的探讨运动神经元病(motor neuron d isease,MND)常规节段运动神经传导和位移技术检测的特点。方法对162例MND患者和60名健康对照进行常规节段运动神经传导测定,同时对部分神经采用位移技术测定,并进行分析比较。结果(1)健康人常规节...目的探讨运动神经元病(motor neuron d isease,MND)常规节段运动神经传导和位移技术检测的特点。方法对162例MND患者和60名健康对照进行常规节段运动神经传导测定,同时对部分神经采用位移技术测定,并进行分析比较。结果(1)健康人常规节段运动神经传导测定显示:近端与远端比较,波幅和面积下降程度均小于20%,时限增宽小于15%;(2)在MND患者,常规节段测定共有76个节段(5.57%)波幅下降超过20%,45个节段(3.30%)面积下降超过20%,76个节段(5.57%)时限延长超过15%。仅有4例(2.5%)患者4条神经的4个常规节段(0.29%)达到运动神经部分性传导阻滞标准,但采用位移技术测定时均未达到短节段传导阻滞的诊断标准。结论在大部分MND患者常规节段运动神经传导测定正常,在部分患者也可以出现“传导阻滞样”的电生理表现,但其发生率极低,进一步采用位移技术测定有助于鉴别。展开更多
Amyotrophic lateral sclerosis （ALS） is a fatal neurodegenerative disorder characterized by the selective loss of motor neurons. Abnormal protein aggregation and impaired protein degradation are believed to contribut...Amyotrophic lateral sclerosis （ALS） is a fatal neurodegenerative disorder characterized by the selective loss of motor neurons. Abnormal protein aggregation and impaired protein degradation are believed to contribute to the pathogenesis of this disease. Our previous studies showed that an autophagic flux defect is involved in motor neuron degeneration in the SOD1G93A mouse model of ALS. Histone deacetylase 6 （HDAC6） is a class II deacetylase that promotes autophagy by inducing the fusion of autophagosomes to lysosomes. In the present study, we showed that HDAC6 expression was decreased at the onset of disease and became extremely low at the late stage in ALS mice. Using lentivirus-HDAC6 gene injection, we found that HDAC6 overexpression prolonged the lifespan and delayed the motor neuron degeneration in ALS mice. Moreover, HDAC6 induced the formation of autolysosomes and accelerated the degradation of SOD1 protein aggregates in the motor neurons of ALS mice. Collectively, our results indicate that HDAC6 has neuroprotective effects in an animal model of ALS by improving the autophagic flux in motor neurons, and autophagosome-lysosome fusion might be a therapeutic target for ALS.展开更多
文章检索中国知网、万方数据库、Pub Med中近10年间有关运动神经元病的中医研究文献,检索词分别为"运动神经元病、中医、中医治疗"和"Motor Neuron Disease、Traditional Chinese Medicine、Traditional Chinese Medicin...文章检索中国知网、万方数据库、Pub Med中近10年间有关运动神经元病的中医研究文献,检索词分别为"运动神经元病、中医、中医治疗"和"Motor Neuron Disease、Traditional Chinese Medicine、Traditional Chinese Medicine Treatment",检索式分别为"与"和"and"。共检索到中文文献447篇,英文文献22篇,根据文献纳入、排除标准,剔除不规范及重复文献,共纳入符合标准文献34篇。发现中医在治疗运动神经元病上优势明显,并且取得了显著研究进展,为医学工作者今后对于本病的研究及治疗提供了参考和依据。展开更多
文摘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).
文摘目的探讨运动神经元病(motor neuron d isease,MND)常规节段运动神经传导和位移技术检测的特点。方法对162例MND患者和60名健康对照进行常规节段运动神经传导测定,同时对部分神经采用位移技术测定,并进行分析比较。结果(1)健康人常规节段运动神经传导测定显示:近端与远端比较,波幅和面积下降程度均小于20%,时限增宽小于15%;(2)在MND患者,常规节段测定共有76个节段(5.57%)波幅下降超过20%,45个节段(3.30%)面积下降超过20%,76个节段(5.57%)时限延长超过15%。仅有4例(2.5%)患者4条神经的4个常规节段(0.29%)达到运动神经部分性传导阻滞标准,但采用位移技术测定时均未达到短节段传导阻滞的诊断标准。结论在大部分MND患者常规节段运动神经传导测定正常,在部分患者也可以出现“传导阻滞样”的电生理表现,但其发生率极低,进一步采用位移技术测定有助于鉴别。
基金supported by grants from the National Natural Science Foundation of China (81200977)the Shanghai Natural Science Foundation (14ZR1446400)+2 种基金Shanghai Rising-Star Program (15QA1403000)the PhD Innovation Fund of Shanghai Jiaotong University School of Medicine (BXJ 201218)the PhD Tutor Fund of the Ministry of Education of China (20120073110077)
文摘Amyotrophic lateral sclerosis （ALS） is a fatal neurodegenerative disorder characterized by the selective loss of motor neurons. Abnormal protein aggregation and impaired protein degradation are believed to contribute to the pathogenesis of this disease. Our previous studies showed that an autophagic flux defect is involved in motor neuron degeneration in the SOD1G93A mouse model of ALS. Histone deacetylase 6 （HDAC6） is a class II deacetylase that promotes autophagy by inducing the fusion of autophagosomes to lysosomes. In the present study, we showed that HDAC6 expression was decreased at the onset of disease and became extremely low at the late stage in ALS mice. Using lentivirus-HDAC6 gene injection, we found that HDAC6 overexpression prolonged the lifespan and delayed the motor neuron degeneration in ALS mice. Moreover, HDAC6 induced the formation of autolysosomes and accelerated the degradation of SOD1 protein aggregates in the motor neurons of ALS mice. Collectively, our results indicate that HDAC6 has neuroprotective effects in an animal model of ALS by improving the autophagic flux in motor neurons, and autophagosome-lysosome fusion might be a therapeutic target for ALS.
文摘文章检索中国知网、万方数据库、Pub Med中近10年间有关运动神经元病的中医研究文献,检索词分别为"运动神经元病、中医、中医治疗"和"Motor Neuron Disease、Traditional Chinese Medicine、Traditional Chinese Medicine Treatment",检索式分别为"与"和"and"。共检索到中文文献447篇,英文文献22篇,根据文献纳入、排除标准,剔除不规范及重复文献,共纳入符合标准文献34篇。发现中医在治疗运动神经元病上优势明显,并且取得了显著研究进展,为医学工作者今后对于本病的研究及治疗提供了参考和依据。
