在儿科非退行性 dystonia 中长期的 Globus Pallidus Internus 深度大脑刺激:一个队列研究和一个元分析
Valentina Duga1,2, Riccardo Giossi3,4, Luigi Michele Romito5
1Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
概括
深度大脑刺激 (DBS) 显示了对儿科 dystonia 的长期有效性,结果因基因而异. 在DBS. globus pallidus internus之后,TOR1A-dystonia表现出最显著和最稳定的改善.
科学领域:
- 神经学 神经学
- 神经外科 神经外科
- 遗传学 是一个遗传学.
背景情况:
- 对儿科药物耐药性非退行性单一性 dystonia 的深度大脑刺激 (DBS) 的证据有限.
- 这种人群中DBS的长期结果尚未得到充分确立.
研究的目的:
- 在儿科 dystonia 患者中报告 globus pallidus internus DBS 的长期结果.
- 将单中心队列结果与现有文献的元分析进行比较.
主要方法:
- 用DBS治疗的非退行性遗传性或异常性 dystonia 的儿科患者的回顾性单中心队列研究.
- 系统性审查和个人患者数据的元分析.
- 主要结局:伯克-法恩-马斯登 dystonia 评级尺度-运动 (BFMDRS-M) 评分的变化.
主要成果:
- 临床队列 (25名患者,随访11.4年) 和元分析队列 (224名患者,随访3年) 显示了持续的BFMDRS-M改善.
- 在两个队列中,TOR1A-dystonia表现出最强和最稳定的改善.
- SGCE-dystonia表现出良好的改善,而THAP1-和KMT2B-dystonia的反应不那么明显或持续.
结论:
- Globus pallidus internus DBS是一种潜在的有效的长期治疗儿科 dystonia.
- 治疗疗效可能因涉及的特定基因突变而异.
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