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9号染色体开放阅读框72基因六核苷酸GGGGCC致病性重复扩增在神经系统变性病中的研究进展 被引量：2

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摘要 2011年9月在国际学术杂志Neuron上，DeJesus-Hemandez和Renton首次同时报道，在肌萎缩侧索硬化（amyotrophic lateral sclerosis，ALS）和额颞叶痴呆（frontotemporal dementia，FTD）患者中发现9号染色体开放阅读框72（C90RF72）基因的非编码区六核苷酸GGGGCC（G4C2）的致病性重复扩增现象[1-2]。之后，全球各研究中心掀起了一股C90RF72基因与神经系统变性病相关的研究热潮。因此，我们将国内外针对C90RF72基因G4C2致病性重复扩增的研究现状进行综述。
作者 王雅琴 袁毅 唐北沙
机构地区 中南大学湘雅医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2014年第8期568-571,共4页 Chinese Journal of Neurology
关键词 神经系统变性病 开放阅读框 9号染色体 致病性 核苷酸 基因 扩增 肌萎缩侧索硬化
分类号 R741 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献30

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二级参考文献40

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共引文献8

同被引文献67

  • 1Gordon PH. Amyatrophic Lateral Sclerosis: An update for 2013 Clinical Features, Pathophysiology, Management and Therapeutic Trials[J]. Aging Dis, 2013, 4(5) : 295-310.
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引证文献2

二级引证文献8

中华神经科杂志
2014年 第8期

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