期刊文献+

遗传性脊髓小脑性共济失调一家系报道

下载PDF
导出
摘要 本文报道一个遗传性脊髓小脑性共济失调(spinocerebellar ataxia.SCA)家系,观察了该家系患者的临床症状、体征及辅助检查结果,并对其中2例患者做了基因检测。我们通过复习相关文献,对该类疾病的发病机制、分类、临床特征等进行了总结以及讨论。
出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2007年第3期367-368,共2页 Journal of Apoplexy and Nervous Diseases
  • 相关文献

参考文献11

  • 1Manto MU.The wide spectrum of spinocerebellar ataxias (SCAs)[J].Cerebellum,2005,4(1):2-6.
  • 2Koeppen AH.The pathogenesis of spinocerebellar ataxia[J].Cerebellum,2005,4 (1):62-73.
  • 3Ludger S,Peter B,Thorsten S,et al.Autosomal dominant cerebellar ataxias:clinical features,genetics,and pathogenesis[J].Lancet Neurol,2004,3:291-304.
  • 4Jiang H,Tang B,Xia K,et al.Spinocerebellar ataxia type 6 in China's Mainland:molecular and clinical features in four families[J].Journal of the Neurological Sciences,2005,236(1-2):25-9.
  • 5Fukutake T,Kamitsukasa I,Arai K,et al.A patient homozygousfor the SCA6gene with retinitis pigmentosa[J].Clin Genet,2002,61(5):375-9.
  • 6Tang BS,Liu CY,Shen LU,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[J].Arch Neurol,2000,57:5402-544.
  • 7Ikuchi Y,Ogawa M,Shigetoh H,et al.A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy[J].Rinsho Shinkeigaku-Clinical Neurology,1999,39(9):944-7.
  • 8Giuffrida S,Saponara R,Restivo DA,et al.Supratentorial atrophy in spinocerebellar ataxia type2:MRI study of 20 patients[J].J Neurol,1999,246:383-88.
  • 9Lockgether T,Skalej M,Wedekind D,et al.Autosomal dominant cerebellar ataxia type Ⅰ.MRIbased volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1,2and 3[J].Brain,1998,121:1687-93.
  • 10Urata Y,Kawakami H,Yamaguchi S,et al.Characteristic magnetic resonance imaging findings inspinocerebellar ataxia 6[J].Arch Neurol,1998,55:1348-52.

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部