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遗传性痉挛性截瘫的临床表现与基因诊断策略 被引量：8

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摘要 遗传性痉挛性截瘫（hereditary spastic paraplegia,HSP）,又称Strümpell-Lorrain病,是一种具有临床及遗传异质性的神经系统遗传病。HSP的病理改变主要表现为脊髓中双侧皮质脊髓束的轴索变性和（或）脱髓鞘,且以胸段病变明显;临床表现为缓慢进展的双下肢无力及痉挛性截瘫。
作者 戎天艺 陈生弟
机构地区 上海交通大学医学院附属瑞金医院神经内科上海交通大学医学院神经病学研究所
出处 《诊断学理论与实践》 2011年第2期175-178,共4页 Journal of Diagnostics Concepts & Practice
基金 国家重点基础研究规划("973"计划 2006cb500706)
关键词 遗传性痉挛性截瘫 遗传学 诊断
分类号 R446 [医药卫生—诊断学] R746 [医药卫生—神经病学与精神病学]
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参考文献8

  • 1Errico A,Ballabio A,Rugarli EI.Spastin,the protein mutated in autosomal dominant hereditary spastic paraplegia,is involved in microtubule dynamics[J].Hum Mol Genet,2002,11(2):153-163.
  • 2Park SH,Zhu PP,Parker RL,et al.Hereditary spastic paraplegia proteins REEP1,spastin,and atlastin-1 coordinate microtubule interactions with the tubular ER network[J].J Clin Invest,2010,120(4):1097-1110.
  • 3Koppen M,Metodiev MD,Casari G,et al.Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia[J].Mol Cell Biol,2007,27(2):758-767.
  • 4Hentati A,Pericak-Vance MA,Hung WY,et al.Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity[J].Hum Mol Genet,1994,3(8):1263-1267.
  • 5Dion PA,Daoud H,Rouleau GA.Genetics of motor neuron disorders:new insights into pathogenic mechanisms[J].Nat Rev Genet,2009,10(11):769-782.
  • 6Harding AE.Classification of the hereditary ataxias and paraplegias[J].Lancet,1983,1(8334):1151-1155.
  • 7Sauter SM,Engel W,Neumann LM,et al.Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus[J].Hum Mutat,2004,23(1):98.
  • 8Scarano V,Mancini P,Criscuolo C,et al.The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy[J].J Neurol,2005,252(8):901-903.

同被引文献45

  • 1Junjie Hu Department of Genetics and Cell Biology, College of Life Sciences, Nankai University.A class of dynamin-like GTPases involved in the generation of the tubular ER network[J].生物物理学报,2009,25(S1):204-204. 被引量：7
  • 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
  • 3Harding AE. Classification of the hereditary ataxias and paraplegias [J]. Lancet, 1983,1 ( 8334 ) : 1151-1155.
  • 4Finsterer J,Loscher W,Quasthoff S,et al. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance[J]. J Neurol Sci, 2012,318( 1/2 ) : 1-18.
  • 5Uttner I, Baumgartner A, Sperfeld AD, et al. Cognitive performance in pure and complicated hereditary spastic paraparesis: a neuropsychological and neuroimaging study [J]. Neurosci Lett, 2007, 419(2): 158-161.
  • 6Wharton SB,McDermott CJ,Grierson AJ,et al. The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene [J]. J Neuropathol Exp Neuro1,2003, 62( 11 ) : 1166-1177.
  • 7Ruano L,Melo C,Silva MC,et al. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies[J]. Neuroepidemiology,2014, 42(3): 174-183.
  • 8Faber I,Servelhere KR,Martinez AR,et al. Clinical features and management of hereditary spastic paraplegia[J]. Arq Neuropsiquia- tr,2014,72(3) :219-226.
  • 9Kaplan JC,Hamroun D. The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome )[J]. Neuromuscul Disord ,2013,23(12) : 1081-1111.
  • 10Fink JK. Hereditary spastic paraplegia: clinieu-pathologic features and emerging molecular mechanisms[J]. Acta Neuropathol, 2013, 126( 3 ) : 307-328.

引证文献8

二级引证文献19

诊断学理论与实践
2011年 第2期

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