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伴帕金森症状的脊髓小脑性共济失调 被引量：2

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摘要 脊髓小脑性共济失调（spinocerebellar ataxias，SCAs）是一组具有临床和遗传异质性的神经退行性疾病，多为常染色体显性遗传，目前发现至少30个位点与其有关。SCAs临床表现具有多样性，主要是共济失调，但部分患者可出现帕金森症状。目前为止，已报道可出现帕金森症状的SCAs亚型有SCA1（经常出现）、SCA2（频繁出现）、SCA3（频繁出现）、SCA6（经常出现）、SCA12（经常出现）、SCA14（较少出现）、SCA17（频繁出现）、SCA20（较少出现）及SCA21（经常出现）。
作者 卢兴娇 罗巍
机构地区 浙江大学医学院附属第二医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2013年第4期273-275,共3页 Chinese Journal of Neurology
基金 国家自然科学基金资助项目（30973221） 浙江省自然科学基金资助项目（LY12H09006） “十二五”国家科技支撑计划项目资助项目（2012BAIIOB00）
关键词 脊髓小脑性共济失调 帕金森症状 常染色体显性遗传 神经退行性疾病 临床表现 SCAs 遗传异质性 SCA1
分类号 R742.5 [医药卫生—神经病学与精神病学]
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参考文献34

  • 1Ramos EM, Martins S, Alonso I, et al. Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). Am J Med Genet B Neuropsychiatr Genet, 2010, 153B: 524-531.
  • 2Simon-Sanchez J, Hanson M, Singleton A, et al. Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson' s disease. Neurosci Lett, 2005, 382 : 191-194.
  • 3van Gaalen J, Giunti P, van de Warrenburg BP. Movement disorders in spinocerebellar ataxias. Mov Disord, 2011, 26: 792- 800.
  • 4Schls L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias : clinical features, genetics, and pathogenesis. Lancet Neurol, 2004, 3: 291-304.
  • 5Mori N, Adachi Y, Takeshima T, et al. Branched-chain amino acid therapy for spinocerebellar degeneration: a pilot clinical crossover trial. Intern Med, 1999, 38 : 401-406.
  • 6Veldzquez-P6rez L, Rodrfguez-Labrada R, Garcia-Rodriguez JC, et al. A comprehensive review of spinocerebellar ataxia type 2 in Cuba. Cerebellum, 2011, 10: 184-198.
  • 7Charles P, Camuzat A, Benammar N, et al. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonisra?. Neurology, 2007, 69: 1970-1975.
  • 8Gwinn-Hardy K, Chen JY, Liu HC, et al. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology, 2000, 55 : 800-805.
  • 9Sun H, Satake W, Zhang C, et al. Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family. J Hum Genet, 2011,56: 330-334.
  • 10Gwinn-Hardy K, Singleton A, O' Suilleabhain P, et al. Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch Neurol, 2001, 58 : 296-299.

二级参考文献64

  • 1谢秋幼,李洵桦,梁秀龄.脊髓小脑性共济失调6型的分子遗传学诊断及临床特点[J].临床神经病学杂志,2004,17(5):321-323. 被引量：5
  • 2JIANGHong,TANGBei-sha,XUBo,ZHAOGuo-hua,SHENLu,TANGJian-guang,LIQing-hua,XIAKun.Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6[J].Chinese Medical Journal,2005(10):837-843. 被引量：12
  • 3Schols L, KrUger R, Amoiridis G, et al. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry, 1998,64 : 67-73.
  • 4Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alphalA-vohage-dependent calcium channel. Nat Genet, 1997, 15: 62-69.
  • 5Kaseda Y, Kawakami H, Matsuyama Z, et al. Spinocerebellar ataxia type 6 in relation to CAG repeat length. Acta Neurol Scand, 1999, 99: 209-212.
  • 6Jiang H,Tanga 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(1-2): 25-29.
  • 7Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol, 1993, 61:1-14.
  • 8Tang 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 Neurel, 2000, 57: 540-544.
  • 9Ishikawa K, Watanabe M, Yoshizawa K, et al. Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6). J Neurol Neurosurg Psychiatry, 1999, 67 : 86-89.
  • 10Takahashi H, Ikeuchi T, Honma Y, et al. Autosomal dominant cerebellar ataxia (SCA6) : clinical, genetic and neuropathological study in a family. Acta Neuropathol, 199g, 95 : 333-337.

共引文献40

同被引文献25

  • 1江泓,唐北沙,许波,赵国华,沈璐,汤建光,李清华,夏昆.中国大陆汉族人群SCA各亚型的突变频率分析及SCA6的临床和分子特征[J].中华医学遗传学杂志,2005,22(1):1-4. 被引量：9
  • 2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
  • 3Durr A. Autosomal dominant cerebellarataxias: polygtutamine expansions and beyond [ J ]. Lancet Neurol, 2010, 9 (9) : 885- 894.
  • 4Zoghbi HY. Spinocerebellar ataxias[J]. Neurobiol Dis, 2000, 7 (5) : 523-527.
  • 5Bettencourt C, Santos C, Coutinho P, et al. Parkinsonianphenotype in Machado-Joseph disease( MJD/SCA3 ) : a two-casereport [ J ]. BMCNeurol, 2011, 11 : 131.
  • 6Matilla-Duemas A. Machado-Joseph disease andother rarespinocerebellarataxias[ J]. Adv Exp Med Biol, 2012, 724: 172-188.
  • 7Di Gagorio E, Borroni B, Giorgio E, et al. ELOVI5 mutations cause spinocerebellar ataxia 38 [ J]. Am J Hum Genet, 2014, 95 ( 2 ) : 209-217.
  • 8SchNs L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxiax: clinical features, genetics, and pathogenesis [J]. Lancet Neurol, 2004, 3(5) : 291-304.
  • 9Serrano-Munuera C, Corral-Juan M, Stevanin G, et al. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome lp32 [ J ]. JAMA Neurol, 2013, 70(6) : 764-771.
  • 10Trott A, Jardim LB, Ludwig HT, et al. Spinocerebellar ataxias in 114 Brazilian families : clinical and molecular findings [ J ]. Clin Genet, 2006, 70(2) : 173-176.

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中华神经科杂志
2013年 第4期

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