鞘注诺西那生钠对脊髓性肌萎缩症患者运动和电生理改善作用的研究进展
Progress of Study on the Improvement of Motor and Electrophysiology in SMA Patients with Nosina-cin Sodium Injection
王国栋 1田淑芬1
作者信息
- 1. 贵州医科大学附属医院神经内科,贵州 550004
- 折叠
摘要
脊髓性肌萎缩症(SMA)是由于运动神经元存活基因1(SMN1)的致病性突变,导致编码产物SMN蛋白缺乏所致的严重遗传性神经肌肉疾病,其临床治疗是一个长期困扰医学界的难题.在最近的几年中,诺西那生钠作为一种创新的治疗手段,经过详细的临床观察和电生理检测,我们发现给予SMA患者诺西那生钠可以显著提高肌肉中的全长SMN蛋白的表达,进而优化神经肌肉接头的传输效率和增强肌肉的收缩功能.另外,该药能调节神经兴奋性、提高神经传导速度、促进肌肉再生、进一步提高患者电生理表现等为SMA患者的治疗带来了希望.
Abstract
Spinal muscular atrophy(SMA),as a serious hereditary neuromuscular disease,is caused by pathogenic mutations in the survival motor neuron 1(SMN1)gene,leading to a deficiency in the encoded product,survival motor neuron(SMN)protein.Clinical treatment of SMA has long been a challenging issue in the medical field.After detailed clinical observation and electrophysiological testing,we found that the administration of nosina-cin sodium in SMA patients significantly increased the expression of full-length SMN protein in muscles,thereby optimizing the transport efficiency of neuromuscular junctions and enhancing muscle contractile function.In addi-tion,the drug can regulate nerve excitability,increase nerve conduction speed,promote muscle regeneration,and further improve the electrophysiological performance of patients,bring hope to the treatment of SMA patients.
关键词
诺西那生钠/脊髓性肌萎缩症/运动功能/电生理Key words
Nosinacin sodium/Spinal muscular atrophy/Motor function/Electrophysiology引用本文复制引用
出版年
2024
NETL
NSTL
万方数据