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脊髓小脑型共济失调6型一家系3例报告

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摘要 采用聚合酶链反应-聚丙烯酰胺凝胶电泳（PCR-PAGE）技术，对一SCA6家系的3例患者行SCA6（CAG）n的重复数目分析，并对异常等位基因进行测序，分析SCA6患者的临床特征。结果3例患者（CAG）n重复数目为25和26，而正常人群为5～17；SCA6的临床特征为缓慢进展的纯小脑性共济失调及小脑萎缩。认为基因突变检测是诊断SCA6的金标准；SCA6与其他SCAs亚型不同，仅表现为单纯小脑性共济失调。
作者 孙顺昌 许波
机构地区 青岛大学医学院第二附属医院
出处 《山东医药》 CAS 北大核心 2008年第40期76-77,共2页 Shandong Medical Journal
关键词 脊髓小脑共济失调6型 临床特点 基因突变
分类号 R742.8 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献8

  • 1Harding AE. Clinical features and classification of inherited ataxias [ J ] . Adv Neurol, 1993,61( 1 ) : 1-14.
  • 2Zhuehenko O, Bailey J, Bonnen P, et al. Autosomal dominant eerebellar ataxia(SCA6) associated with small polyglutamine expansions in the alpha 1A-vohage-dcpendent calcium channel [ J] .Nat Genet, 1997.15 ( 1 ) : 62-69.
  • 3江泓,唐北沙,张美集,赵国华,许波,李晨.遗传性脊髓小脑型共济失调6型两个家系的临床特征及基因突变研究[J].中华神经科杂志,2003,36(2):98-101. 被引量：9
  • 4Soong BW, Lu YC, Choo KB, et al. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwan Residents patients and clinical and molecular characterization of spinocerebenar ataxia type 6 [ J]. Arch Neurol, 2001,58(7) : 1105-1109.
  • 5Tang BS, Liu CY, Shen L, et al. Frequency of SCA1, SCA2, SCA3/MJD SCA6, SCA7, and DRPLA CAG trinucleofide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds I J] .Ann Neurol, 2000,57 (4) :540-544.
  • 6许波,唐北沙,张玉虎,江泓,郭纪锋,刘小民,汤建光,沈璐.脊髓小脑型共济失调6型患者的临床特征及基因突变分析[J].临床神经病学杂志,2006,19(2):81-83. 被引量：3
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二级参考文献12

  • 1王晔,郭大文,王德生.脊髓小脑性共济失调6型[J].临床神经病学杂志,2005,18(1):69-70. 被引量：4
  • 2Harding AE. Clinical features and classification of inherited ataxias[J]. Adv Neurol, 1993,61:1.
  • 3Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia(SCA6) associated with small polyglutamine expansions in the alpha 1 A-voltage-dependent calcium channel[ J]. Nat Genet,1997,15:62.
  • 4Soong BW, Lu YC, Choo KB, et al. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwan Residents patients and clinical and molecular characterization of spinocerebellar ataxia type 6 [ J ]. Arch Neurol,2001,58 : 1105.
  • 5Schols L, Amoiridis G, Buttner T, et al. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes[ J ] ? Ann Neurol, 1997,42:924.
  • 6Tang BS,Liu CY,Shen L,et al. Frequency of SCAI ,SCA2,SCA3/MJD,SCA6 ,SCA7 ,and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds [ J ]. Ann Neurol,2000 ,57 :540.
  • 7Watanabe H, Tanaka F, Matsumoto M, et al. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6 [ J ]. Clin Genet,1998,53:13.
  • 8Schols L, Kruger R, Amoiridis G, et al. Spinocerebellar ataxia type 6 :genotype and phenotype in German kindreds[ J]. J Neurol Neurosurg Psychiat, 1998,64:67.
  • 9Dichgans M, Schols L, Herzog J, et al. Spinocerebellar ataxia type 6 :evidence for a strong founder effect among German familes[ J]. Neurology, 1999,52:849.
  • 10丁新生,程虹,李晨,姚娟,邓晓萱,DEBRA LEONARD.三核苷酸重复的检测在脊髓小脑型共济失调的应用研究[J].临床神经病学杂志,1999,12(1):6-8. 被引量：7

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山东医药
2008年 第40期

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