期刊文献+

亨廷顿病1例报告

下载PDF
导出
摘要 患者女,41岁,农民。因头颈部及四肢不自主运动1a,于2012年10月27日入院。患者1a前出现头颈部不自主运动,逐渐出现四肢不自主运动,以右侧肢体明显;表现为挤眉弄眼、头部不停摇晃,说话音调改变;双上肢舞蹈样动作,站立不稳,走路摇摆;情绪激动、精神紧张时加重,
出处 《山东医药》 CAS 2013年第24期101-101,共1页 Shandong Medical Journal
  • 相关文献

参考文献6

二级参考文献142

  • 1王育新,张本恕.脑源性神经营养因子与亨廷顿病[J].国际神经病学神经外科学杂志,2005,32(6):530-533. 被引量:2
  • 2[2]The Huntington's Disease Collaborative Research Group.A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosome.Cell,1993,72:971-983.
  • 3[3]Brinkman RR,Mezei MM,Theilmann J,et al.The likelihood of being affected with Huntington disease by a particular age,for a specific CAG size.Am J Hum Genet,1997,60:1202-1210.
  • 4[4]The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group.ACMG/ASHG statement:laboratory guidelines for Huntington disease genetic testing.Am J Hum Genet,1998,62:1243-1247.
  • 5[5]Kremer B,Almqvist E,Theilmann J,et al.Sex-dependent machanisma for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.Am J Hum Genet,1995,57:343-350.
  • 6[6]Wheeler VC,Persichetti F,McNeil SM,et al.Factors associated with HD CAG repeat instability in Huntington disease.J Med Genet,2007,44:695-701.
  • 7[7]Tang Y,Wang Y,Yang P,et al.Intergeneration CAG expansion and contraction in a Chinese HD family.Am J Med Genet B Neuropsychiatr Genet,2006,141:242-244.
  • 8[8]Decruyenaere M,Evers-Kiebooms G,Boogaerts A,et al.Partners of mutation-carriers for Huntington's disease:forgotten persons?Eur J Hum Genet,2005,13:1077-1085.
  • 9[9]Lasson MU,Luszcz MA,Bui TH,et al.Depression and suicidal ideation after predictive testing for Huntington's disease:a two-year follow-up study.J Genet Couns,2006,15:361-374.
  • 10[10]Vamos M,Hambridge J,Edwards M,et al.The impact of Huntington's disease on family life.Psychosomatics,2007,48:400-404.

共引文献18

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