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脊髓性肌萎缩症临床诊断与治疗研究进展 被引量：4

Recent advance in clinical diagnosis and treatment of spinal muscular atrophy
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摘要 脊髓性肌萎缩症（spinal muscular atrophy,SMA）是一种常见的遗传性神经肌肉病,为常染色体隐性遗传.活产婴儿的发病率为1/6000～1/10 000,人群携带者频率为1/40～1/50[1];病变表现为进行性、对称性肢体近端和躯干肌肉无力、瘫痪和萎缩[2].运动神经元生存基因1 （survival motor neuron 1,SMNl）基因的纯合缺失或微小突变造成SMN蛋白表达量下降,而研究表明SMN蛋白对神经元细胞轴突的生长、神经肌肉接头的形成、RNA的轴浆运输都发挥了重要作用[3],其表达量下降导致了脊髓前角α运动神经元退化变性,进而肌肉无力.运动神经元生存基因1 （survival motor neuron2,SMN2）基因与SMN1基因高度同源,可以编码部分正常功能SMN蛋白,缓解SMA的临床症状.
作者 梁梦妮 方萍 李亮
机构地区 南方医科大学基础医学院医学遗传学教研室
出处 《中华神经医学杂志》 CAS CSCD 北大核心 2014年第5期528-530,共3页 Chinese Journal of Neuromedicine
基金 国家自然科学基金（81101328） 广东省自然科学基金博士启动项目（S2012040007745） 珠江科技新星专项（2013J2200050）
关键词 脊髓性肌萎缩症 临床诊断 干细胞 基因治疗 Spinal muscular atrophy Clinical diagnosis Stem cell Gene therapy
分类号 R746 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献26

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二级参考文献37

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共引文献9

同被引文献39

  • 1江雨,周裕林.脊髓性肌萎缩症SMN1基因携带者筛查技术研究进展[J].中国产前诊断杂志（电子版）,2013,5(2):34-39. 被引量：5
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引证文献4

二级引证文献15

中华神经医学杂志
2014年 第5期

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