在神经元内核包容性疾病中的单边翼跳
Atsuhiko Sugiyama1, Kazuho Kojima2, Shigeki Hirano1
1Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Case reports in neurology
|July 24, 2023
概括
神经内核包容性疾病 (NIID) 可以表现为单边的翅膀跳动震. 佐尼萨米德在诊断患者的这种特定的震呈现管理方面表现出部分有效性.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
背景情况:
- 神经内核包容性疾病 (NIID) 是一种罕见的,进展性神经退行性疾病.
- NIID呈现出各种神经症状,包括震,通常影响上肢.
研究的目的:
- 报告一个独特的NIID病例,呈现出单边的翅膀跳动震.
- 评估Zonisamide在NIID中治疗这种特定类型震的疗效.
主要方法:
- 一个68岁男性的临床病例介绍,他有8年的震病史.
- 通过对NOTCH2NLC基因中GGC重复扩张的遗传测试来确认诊断.
- 震特征的评估 (频率,幅度,姿势诱导) 和对佐尼萨米德的反应.
主要成果:
- 患者表现出低频,高幅度,姿势诱导的近接臂震 (翅膀跳动震).
- 基因分析证实NIID是由于NOTCH2NLC中的异常GGC重复扩张引起的.
- 佐尼萨米德治疗导致翅膀跳动震的部分改善.
结论:
- 单侧翼震是一种潜在的,尽管不常见,NIID的临床表现.
- 尼萨米德可以作为一种治疗选择,用于诊断为NIID的患者的震管理.
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