Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2024, Vol. 24 ›› Issue (4): 285-289. doi: 10.3969/j.issn.1672-6731.2024.04.014

• Case Report • Previous Articles     Next Articles

Dopa-responsive dystonia caused by TH gene variations: two cases report

Qian WU, Fei-xia ZHAN, Li CAO*()   

  1. Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200233, China
  • Received:2024-01-29 Online:2024-04-25 Published:2024-05-06
  • Contact: Li CAO
  • Supported by:
    the National Natural Science Foundation of China(81870889); the National Natural Science Foundation of China(82071258)

TH基因变异致多巴反应性肌张力障碍二例

武倩, 詹飞霞, 曹立*()   

  1. 200233 上海交通大学医学院附属第六人民医院神经内科
  • 通讯作者: 曹立
  • 基金资助:
    国家自然科学基金资助项目(81870889); 国家自然科学基金资助项目(82071258)

Key words: Dopa -responsive dystonia (not in MeSH), Tyrosine hydroxylase deficiency (not in MeSH), Levodopa, Genes, Mutation, Case reports

关键词: 多巴反应性肌张力障碍(非MeSH词), 酪氨酸羟化酶缺乏症(非MeSH词), 左旋多巴, 基因, 突变, 病例报告