中国现代神经疾病杂志 ›› 2019, Vol. 19 ›› Issue (11): 909-912. doi: 10.3969/j.issn.1672-6731.2019.11.017

• 病例报告 • 上一篇    

2 TUBB4A基因突变致非典型伴基底节和小脑萎缩的低髓鞘化脑白质营养不良一例

郄靖媛, 王强, 宋鲁平   

  1. 100068 北京, 首都医科大学康复医学院 中国康复研究中心 北京博爱医院神经康复科 神经损伤与康复北京市重点实验室
  • 收稿日期:2019-10-21 出版日期:2019-11-25 发布日期:2019-11-25
  • 通讯作者: 宋鲁平,Email:songluping882002@aliyun.com

Atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by TUBB4A mutation: one case report

QIE Jing-yuan, WANG Qiang, SONG Lu-ping   

  1. School of Rehabilitation Medicine, Capital Medical University;Department of Neurorehabilitation, Beijing Boai Hospital, China Rehabilitation Research Center;Beijing Key Laboratory of Neurological Injury and Rehabilitation, Beijing 100068, China
  • Received:2019-10-21 Online:2019-11-25 Published:2019-11-25
  • Contact: SONG Lu-ping (Email: songluping882002@aliyun.com)

关键词: 脑白质病, 基底神经节, 小脑, 萎缩, 微管蛋白, 突变, 病例报告

Key words: Leukoencephalopathies, Basal ganglia, Cerebellum, Atrophy, Tubulin, Mutation, Case reports