[Basic and clinical researches on amyotrophic lateral sclerosis/motor neuron disease].
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).
Fan
Dong-sheng
DS
Department of Neurology, Peking University Third Hospital, Beijing 100191, China. dsfan@sina.com.cn
Zhang
Jun
J
Deng
Min
M
Kang
De-xuan
DX
Zheng
Ju-yang
JY
Xu
Ying-sheng
YS
Lu
Ming
M
Fu
Yu
Y
Shen
Yang
Y
Zhang
Ying-shuang
YS
Zhang
Hua-gang
HG
D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D002986:Clinical Trials as Topic; D016208:Databases, Factual; D003937:Diagnosis, Differential; D004576:Electromyography; D006801:Humans; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1