Laurencin Chloé, Poujois Aurelia, Bonjour Maxime, Demily Caroline, Klinger Hélène, Roze Emmanuel, Leclert Victoire, Danaila Teodor, Langlois-Jacques Carole, Couchonnal Eduardo, Woimant France, Obadia Mickael Alexandre, Perez Gwennaelle, Pernon Michaela, Blanchet Laurianne, Broussolle Emmanuel, Vidailhet Marie, Kassai Behrouz, Moro Elena, Karachi Carine, Polo Gustavo, Grabli David, Portefaix Aurélie, Thobois Stéphane
Department of Neurology C, Parkinson Expert Center, Pierre Wertheimer Neurological Hospital, Hospices Civils de Lyon, Bron, France.
Lyon Neuroscience Research Center, INSERM U1028, CNRS UMR5292, PATH-PARK Team, University Lyon 1, Lyon, France.
Eur J Neurol. 2025 Jan;32(1):e16524. doi: 10.1111/ene.16524. Epub 2024 Oct 29.
Disabling dystonia despite optimal medical treatment is common in Wilson disease (WD). No controlled study has evaluated the effect of deep brain stimulation (DBS) on dystonia related to WD. This study was undertaken to evaluate the efficacy of DBS on dystonia related to WD.
A meta-analysis of an N-of-1 prospective, randomized, double-blind, multicenter DBS study was conducted at two French WD reference centers. Main inclusion criteria were patients with WD, stabilized for at least 6 months with significant disability due to dystonia despite optimized medical treatment. The subthalamic nucleus (STN) was targeted for bradykinetic patients with tonic dystonia, and the internal globus pallidus (GPi) was chosen for patients with hyperkinetic dystonia. Each patient underwent two periods of DBS "on" and two periods of DBS "off," each lasting 4 months. The order of stimulation conditions was randomized. The primary outcome was the change in the Canadian Occupational Performance Measure Performance (COPM-P) and Satisfaction scores after each 4-month period. Secondary outcomes were changes in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) severity and disability scores and Unified Wilson's Disease Rating Scale (UWDRS) scores.
Between 12 May 2016 and 7 October 2022, three patients were included. Two patients received bilateral GPi DBS, and one received bilateral STN DBS. There was no change of COPM-P (p = 0.956), BFMDRS, and UWDRS scores. No serious adverse events were reported.
STN or GPi DBS are ineffective on dystonia related to WD.
尽管接受了最佳药物治疗，但致残性肌张力障碍在肝豆状核变性（WD）中很常见。尚无对照研究评估深部脑刺激（DBS）对与WD相关的肌张力障碍的影响。本研究旨在评估DBS对与WD相关的肌张力障碍的疗效。
在两个法国WD参考中心对一项N-of-1前瞻性、随机、双盲、多中心DBS研究进行了荟萃分析。主要纳入标准为WD患者，尽管接受了优化的药物治疗，但因肌张力障碍导致严重残疾且病情稳定至少6个月。对于有强直性肌张力障碍的运动迟缓患者，将丘脑底核（STN）作为靶点；对于有运动亢进性肌张力障碍的患者，选择苍白球内侧部（GPi）。每位患者接受两个4个月的DBS“开启”期和两个4个月的DBS“关闭”期。刺激条件的顺序是随机的。主要结局是每个4个月周期后加拿大职业表现测量表现（COPM-P）和满意度评分的变化。次要结局是伯克-法恩-马斯登肌张力障碍评定量表（BFMDRS）严重程度和残疾评分以及统一肝豆状核变性评定量表（UWDRS）评分的变化。
在2016年5月12日至2022年10月7日期间，纳入了3例患者。2例患者接受双侧GPi DBS，1例接受双侧STN DBS。COPM-P（p = 0.956）、BFMDRS和UWDRS评分均无变化。未报告严重不良事件。
STN或GPi DBS对与WD相关的肌张力障碍无效。
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