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脊髓小脑性共济失调一家系30例 被引量:1

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摘要 先证者 男,35岁。2009年3月来我院就诊,3年前无诱因出现走路不稳,无力.伴言语不流利。无头痛。未呕吐,无进食饮水呛咳,无排尿用难。自述发病前身体健康,其父亲、哥哥、姐姐均有类似表现。查体:神清,智力、计势力、记忆力可,言语欠流利.肌张力正常。
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2010年第2期234-235,共2页 Chinese Journal of Medical Genetics
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参考文献12

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二级参考文献26

  • 1谢秋幼,梁秀龄,李洵桦.脊髓小脑性共济失调的分子遗传学诊断与临床应用[J].中华医学遗传学杂志,2005,22(1):71-73. 被引量:13
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同被引文献14

  • 1谢秋幼,梁秀龄,李洵桦.我国南方汉族人脊髓小脑性共济失调不同基因亚型的频率分布[J].中华检验医学杂志,2004,27(9):555-557. 被引量:14
  • 2姜晓华,叶蕾,傅毅,余慧贞,于广平,赵咏桔,宁光,李小英.遗传性脊髓小脑型共济失调一例家系SCA3基因突变研究[J].中华医学杂志,2005,85(12):848-849. 被引量:3
  • 3Duenas AM,Goold R,Giunti P.Molecular pathogenesis of spinocer ebellar ataxias[J].Brain,2006,129:1357-1370.
  • 4Netravathi M,Pal PK,Purushottam M,et a;.spinocerebellar ataxias types 1,2 and 3:age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths[J].J Neurol Sci,2009,277(1-2):83-86.
  • 5Zoghbi HY.Spinocerebellar ataxias[J].Neurobiol Dis,2000,7:523-527.
  • 6Soong BV,Paulson HL.Spinocerebellar ataxia:an update[J].Current opinion in Neurology,2007,20:438-446.
  • 7Kawaguchi Y,Okamoto T,raniwakiM,el al.CAC expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1[J].Nat,Genet,1994,8:221.
  • 8Pulst SM,Nechiporuk A,Nechiporuk T,et al.Moderate expansion of a normary bialletc trinucleotide repeat in spinocerebellar ataxia type 2[J].Nat Genet,1996,14:269-276.
  • 9Orr HT,ChungM Y,Banfi S,et al.Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1[J].Nat Genet,1993,4:221-226.
  • 10Van Alfen N,Sinke RJ,Zwarts MJ,et al.Intermediate CAG repeat lengths(53,54)for MID/SCA3,MJD are associated with an abnormal phenotype[J].Ann Neurol,2001,49:805-807.

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