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遗传性脊髓小脑共济失调7型的临床与基础 被引量:1

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摘要 遗传性脊髓小脑共济失调 7型的特点是共济失调伴有黄斑色素变性。目前认为神经元核内包涵体形成为其病理基础 ,其致病基因已被定位及克隆 ,基因编码区的CAG重复扩展突变为其致病原因。本文综述SCA7型的临床特点。
出处 《中国临床神经科学》 2002年第4期413-416,共4页 Chinese Journal of Clinical Neurosciences
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同被引文献5

  • 1Schols L,Bauer P,Schmidt T,et al. Autosomal dominant cerebellar ataxias : Clinical features, genetics, and pathogenesis [J]. Lancet Neurology,2004,35291 - 304
  • 2Manto M. The wide spectrum of spinocerebellar ataxia[J]. Cerebellum,2005,4 (1) : 2 - 6
  • 3Scriver CR. The metablic and molecular bases of inherited disease[M]. 8th ed. New York: McGraw - Hill Companies, 2001:741 - 748
  • 4Koeppen AH. The pathogenesis of spinous cerebella ataxia[J]. Cerebellum,2005,4(1) :62 - 73
  • 5邬烈铭,高哲石,王善澄,金通观,陈美娟,汪栋祥,江三多.遗传性共济失调伴精神障碍的临床及遗传研究[J].上海精神医学,2001,13(2):73-76. 被引量:2

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