期刊文献+

遗传性痉挛截瘫1例 被引量:2

下载PDF
导出
摘要 遗传性痉挛性截瘫(HSP或SPG)是一组具有高度临床和遗传异质性的罕见的神经系统变性疾病,其发病机制复杂,临床多表现为缓慢进展的双下肢无力及痉挛性截瘫[1]。随着病程的进展最终丧失劳动能力,目前尚无有效的方法预防或延缓该种疾病的发生及进展。该病发病率低,基因检测作为诊断的金标准。我们报道1例单纯型遗传性痉挛性截瘫病例。
出处 《山西医科大学学报》 CAS 2019年第1期121-122,共2页 Journal of Shanxi Medical University
  • 相关文献

参考文献3

二级参考文献20

  • 1Fink JK. Advances in the hereditary spastic paraplegias [J]. Exp Neurol, 2003, 184 Suppl 1:S106-S110.
  • 2Fink JK, Hedera P. Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation [J]. Semin Neurol, 1999, 19: 301-309.
  • 3McDermott C J, Bumess CE, Kirby J, et al. Clinical features of hereditary spastic paraplegia due to spastin mutation[J]. Neurology. 2006, 67(1): 45-51.
  • 4Mc Dermott CJ, White K, Bushby K, et al. Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry, 2000, 69 : 150-160.
  • 5Patel H, Cross H, Proukakis C, et al. SPG20 is mutated in Troyer syndrome, a hereditary spastic paraplegia. Nat Genet,2002, 31 : 347-348.
  • 6Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet, 1999, 23: 296-303.
  • 7Harding AE. Classification of the hereditary ataxia and paraplegias. Lancet, 1983, 1 : 1151-1155.
  • 8Hentati A, Deng HX, Zhai H, et al. Novel mutation in spastin gene and absence of correlation with age at onset of symptoms.Neurology, 2000, 55 : 1388-1390.
  • 9Fink JK. Hereditary spastic paraplegia: the pace quickens. Ann Neurol, 2002, 51 : 669-672.
  • 10Reid A, Kloos M, Ashley-koch A, et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet, 2002, 71 : 1189-1194.

共引文献22

同被引文献11

引证文献2

二级引证文献2

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