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遗传性脊髓小脑共济失调7型研究进展 被引量：2

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摘要 遗传性脊髓小脑共济失调7型（spinocerebellar ataxia 7,SCA7）是一种常染色体显性遗传的进行性神经系统退行性疾病,临床主要表现为小脑共济失调、黄斑变性、视觉障碍等。现已克隆出其致病基因ATXN7;研究认为由其编码区内的CAG序列异常扩增形成Ataxin-7蛋白而引发神经细胞毒性。但对异常Ataxin-7蛋白导致神经退行性变机制的准确认识以及该病的治疗仍是当今棘手的难题。
作者 张依生 宋峰亮 王飞 张荣波 杨小康 徐忠乐 佘新平 陆小欢
机构地区 安徽理工大学医学院遗传教研室
出处 《广东医学》 CAS 北大核心 2015年第23期3718-3721,共4页 Guangdong Medical Journal
基金 国家自然科学基金资助项目(编号:81202294 81302524) 国家级大学生创新创业训练计划项目(编号:AH201410361271 201510361091)
关键词 小脑共济失调 神经退行性变 黄斑变性 细胞毒性 编码区 ATAXIA 神经变性 氧化应激反应 间充质干细胞 神经病理
分类号 R744.7 [医药卫生—神经病学与精神病学]
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参考文献30

  • 1AJAYI A, YU X, LINDBERG S, et al. Expanded ataxin -7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model[J]. BMC Neurosci, 2012, 13(1):86.
  • 2MAGANA J J, TAPIA GUERRERO Y S, VELAZQUEZ PEREZ L, et al. Analysis of CAG repeats in five SCA loci in Mexican pop- ulation: epideraiological evidence of a SCA7 founder effect [ J ]. Clin Genet, 2014, 85(2) : 159 - 165.
  • 3顾卫红,王国相,王燕琪,刘兴洲,周宝玉,杜浩萍,王晓工,李爱红.橄榄-桥脑-小脑萎缩伴视网膜变性的临床及分子生物学研究[J].中华神经科杂志,2000,33(2):93-97. 被引量：18
  • 4王俊岭,徐倩,雷立芳,沈璐,江泓,李晓辉,周亚芳,易继平,周洁,产歌翔,潘乾,夏昆,唐北沙.中国汉族人群SCA1、2、3、6、7、8、10、12、17亚型和齿状核-红核-苍白球-路易体萎缩亚型频率分布[J].中华神经科杂志,2009,42(10):672-675. 被引量：16
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二级参考文献31

  • 1Schols L, Bauer P, Sehmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol, 2004, 3: 291-304.
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  • 4Tang B, Liu C, Shen L, et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol, 2000, 57: 540-544.
  • 5Wang JL, Jiang H, Zhang S, et al. Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Hart. J Genet, 2008, 87: 283-286.
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  • 7Jiang H, Tang B, Xia K, et al. Spinocerebellar ataxia type 6 in China's Mainland: molecular and clinical features in four families. J Neurol Sci, 2005, 236: 25-29.
  • 8Juvonen V, Kairisto V, Hietala M, et al. Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia. J Med Genet, 2002, 39: 935-936.
  • 9Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet, 1983, 1: 1151-1155.
  • 10Basil R, Yabe I, Soma H, et al. Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. J Hum Genet, 2007, 52 : 848-855.

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广东医学
2015年 第23期

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