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遗传性痉挛性截瘫的基因分析 被引量：2

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摘要 遗传性痉挛性截瘫（hereditary spastic paraplegia，HSP）又名家族性Strtimpell—Lorrain痉挛性截瘫，是一类主要由皮质脊髓束受损所引起的遗传性神经退行性疾病，具有明显的遗传异质性。临床表现主要为进行性的痉挛步态、双下肢肌张力增高、腱反射亢进、踝阵挛、病理征阳性、肌无力等，可伴有膀胱直肠功能异常、踝关节振动觉减退、弓形足、脊柱侧弯等。
作者 杜鹃 沈璐 唐北沙
机构地区 中南大学湘雅医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2009年第9期631-634,共4页 Chinese Journal of Neurology
基金 国家“十五”科技攻关计划课题资助项目（2004BA720A03） 国家“十一五”支撑重大项目（2006BA105A07） 国家自然科学基金资助项目（30671151） 湖南省杰出青年基金资助项目（2007JJ1005）
关键词 遗传性痉挛性截瘫 基因分析 神经退行性疾病 下肢肌张力增高 皮质脊髓束 遗传异质性 病理征阳性 临床表现
分类号 R686 [医药卫生—骨科学]
  • 相关文献

参考文献20

  • 1Harding AE. Genetic aspects of autosomal dominant late onset cerebeUar ataxia. J Med Genet, 1981, 18: 436-441.
  • 2Deluca GC, Ebers GC, Esifi MM. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol, 2004, 30: 576-584.
  • 3Franca MC Jr, D' Abreu A, Maurer-Morelli CV, et al. Prospective nettroimaging study in hereditary spastic paraplegia with thin corpus callosum. Mov Disord, 2007, 22: 1556-1562.
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  • 6Hanein S, Martin E, Boukhris A, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet, 2008, 4: 992-1002.
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二级参考文献24

  • 1王天成,裴世澄,黄尚志,梁德胜,王为民.甘肃地区一遗传痉挛性截瘫家系致病基因的定位[J].第四军医大学学报,2005,26(4):368-370. 被引量：2
  • 2陈昕,赵国华,唐北沙.遗传性痉挛性截瘫的病理、遗传学、发病机制和临床的研究进展[J].临床神经病学杂志,2006,19(1):70-72. 被引量：12
  • 3[2]HAZAN J,FONKNECHTEN N,MAVEL D,et al.Spastin,a new AAA protein,is altered in the most frequent form of autosomal dominant spastic paraplegia[J].Nature Genet,1999,23(1):296-303.
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  • 9Zhao X,Alvarado D,Rainier S,et al.Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.Nat Genet,2001,29:326-331
  • 10Fink J K,Heiman-Patterson T,Bird T,et al.Hereditary spastic paraplegia:Advances in genetic research.Neurology,1996,46:1507-1514

共引文献5

同被引文献30

  • 1任志军,唐北沙.遗传性痉挛性截瘫认知功能损害的研究进展[J].临床神经病学杂志,2005,18(6):469-470. 被引量：1
  • 2Harding AE.Genetic aspects of autesomal dominant late onset cerebellar ataxia.J Med Genet,1981,18:436-441.
  • 3Deluca GC,Ebers GC,Esiri MM.The extent of axonal loss in the long tracts in hereditary spastic paraplegia.Neuropathol Appl Neumbiol,2004,30:576-584.
  • 4Franca MC Jr,D'Abreu A,Maurer-Morelli CV,et al.Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callesum.Mov Disord,2007,22:1556-1562.
  • 5Stevanin G,Santorelli FM,Azzedine H,et al.Mutations in SPG11,encoding spatacsin,are a major cause of spastic paraplegia with thin corpus callesum.Nat Genet,2007,39:366-372.
  • 6Salinas S,Proukakis C,Crosby A,et al.Hereditary spastic paraplegia:clinical features and pathogenetic mechanisms.Lancet Neurol,2008,7:1127-1138.
  • 7Liao SS,Shen L,Du J,et al.Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callesum.J Neurol sci,2008,275:92-99.
  • 8Boukhris A,Stevanin G,Feki I,et al.Tunisian hereditary spastic paraplegias:clinical variability supported by genetic heterogeneity.Clin Genet,2009,75:527-36.
  • 9Paisan-Ruiz,Dogu O,Yilmaz A,et al.SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.Neurology,2008,70:1384-1389.
  • 10Denora PS,Schlesinger D,Casali C,et al.Screening of ARHSPTCC patients expands the spectrum of SPG11 mutations and includes a large scale gene delefion.Hum Mutat,2009,30:500-519.

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二级引证文献4

中华神经科杂志
2009年 第9期

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