期刊文献+

继发于甲状腺功能亢进的发作性运动诱发性运动障碍一例 被引量:2

原文传递
导出
摘要 发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD)是一组由突然运动诱发的非随意运动障碍性疾病,遗传或散发病例均有报道[1].目前多数研究认为,原发性家族性PKD多为遗传所致,与PRRT2基因突变相关[2-4].少数情况下,PKD可继发于其他因素或与其他疾病合并存在,如多发性硬化、头部外伤、先天性肌强直或甲状腺功能亢进等疾病[5-7].
出处 《中华神经科杂志》 CAS CSCD 北大核心 2015年第7期602-603,共2页 Chinese Journal of Neurology
基金 国家自然科学基金资助项目(81271262) 上海市科委科研计划重点项目(12ZR1418500)
  • 相关文献

参考文献2

二级参考文献28

  • 1Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004, 63: 2280-2287.
  • 2Li HF, Chen W J, Ni W, Wang KY, Liu GL, Wang N, et al. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. Neurology 2013, 80:1534-1535.
  • 3Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011,43: 1252-1255.
  • 4Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011, 134: 3493-3501.
  • 5Li J, Zhu X, Wang X, Sun W, Feng B, Du T, et aL Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet 2012, 49: 76-78.
  • 6Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012, 1: 2-12.
  • 7Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet 2013, 50: 133-139.
  • 8Li HF, Ni W, Xiong ZQ, Xu JF, Wu ZY. PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia. CNS Neurosci Ther 2013, 19: 61-65.
  • 9Lee YC, Lee M J, Yu HY, Roll P, Roberson ED, Hermann M, et aL PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwan Residents cohort. PLoS One 2012,7:e38543.
  • 10Lossin C, George AL Jr. Myotonia congenita. Adv Genet 2008, 63: 25-55.

共引文献16

同被引文献19

引证文献2

二级引证文献5

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