Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2019, Vol. 19 ›› Issue (3): 216-220. doi: 10.3969/j.issn.1672-6731.2019.03.013

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A pedigree of spinocerebellar ataxia type 2

LI Yan-xin1, SONG Li2, LÜ Zhan-yun2, WANG Quan-quan3, HAO Yan-lei2; LI Yan-xin and SONG Li contributed equally to the article   

  1. 1Grade 2016, Cheeloo College of Medicine, Shandong University, Ji'nan 250012, Shandong, China
    2Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong, China
    3Department of Neuromuscular Disorders, the Third Hospital of Hebei Medical University, Shijiazhuang 050051, Hebei, China
  • Online:2019-03-25 Published:2019-03-28
  • Contact: HAO Yan-lei (Email: yanleihao301@live.com)
  • Supported by:

    This study was supported by the National Natural Science Foundation of China (No. 81771360) and the National Natural Science Foundation of China for Young Scientists (No. 81401064).

脊髓小脑性共济失调2型一家系

李燕新, 宋莉, 吕占云, 王全全, 郝延磊; 李燕新与宋莉对本文有同等贡献   

  1. 250012 济南,山东大学齐鲁医学院 2016 级(李燕新);272000 济宁医学院附属医院神经内科(宋莉,吕占云,郝延磊);050051 石家庄,河北医科大学第三医院神经肌肉病科(王全全)
  • 通讯作者: 郝延磊,Email:yanleihao301@live.com
  • 基金资助:

    国家自然科学基金资助项目(项目编号:81771360);国家自然科学基金青年科学基金资助项目(项目编号:81401064)

Key words: Spinocerebellar ataxias, Trinucleotide repeat expansion, Pedigree, Case reports

摘要:

患者 男性,20 岁。主因持物、行走不稳 4 年,于 2017 年 7 月 25 日入院。患者 4 年前无明显诱因出现行走不稳、双下肢无力,表现为上下楼梯或蹲起稍困难,上述症状与体征呈进行性加重,但无跌倒,无吟诗样语言或言语不清,无吞咽困难,遂以“遗传性小脑性共济失调”收入院。患者自发病以来,精神、睡眠、饮食尚可,大小便正常,体重无明显增减。既往身体健康,无外伤史及手术史,无食物与药物过敏史,无疫区接触史,无传染性疾病病史,无烟酒嗜好。

 

关键词: 脊髓小脑共济失调, 三核苷酸重复扩增, 系谱, 病例报告