Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité Campus Mitte, Charité, University Medicine Berlin, Chariteplatz 1, 10117, Berlin, Germany.
Berlin Institute of Health (BIH), 10178, Berlin, Germany.
J Neurol. 2020 Dec;267(12):3624-3631. doi: 10.1007/s00415-020-09871-8. Epub 2020 Jul 9.
Mutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbations of dyskinesia are a particularly disturbing symptom as they occur predominantly during night and interrupt sleep. We present the clinical short- and long-term effects of pallidal deep brain stimulation (DBS) in three patients with a confirmed pathogenic ADCY5 mutation. Patients were implanted with bilateral pallidal DBS at the age of 34, 20 and 13 years. Medical records were reviewed for clinical history. Pre- and postoperative video files were assessed using the "Abnormal Involuntary Movement Scale" (AIMS) as well as the motor part of the "Burke Fahn Marsden Dystonia Rating Scale" (BFMDRS). All patients reported subjective general improvement ranging from 40 to 60%, especially the reduction of nocturnal episodic dyskinesias (80-90%). Objective scales revealed only a mild decrease of involuntary movements in all and reduced dystonia in one patient. DBS-induced effects were sustained up to 13 years after implantation. We demonstrate that treatment with pallidal DBS was effective in reducing nocturnal dyskinetic exacerbations in patients with ADCY5-related movement disorder, which was sustained over the long term.
ADCY5 基因突变可引起复杂的多动性运动障碍。运动障碍的阵发性加重是一种特别令人困扰的症状，因为它主要发生在夜间，会打断睡眠。我们介绍了 3 名经证实存在致病性 ADCY5 突变的患者接受苍白球深部脑刺激（DBS）的短期和长期临床效果。患者分别在 34 岁、20 岁和 13 岁时接受双侧苍白球 DBS 植入。我们回顾了临床病史的病历记录。使用“异常不自主运动量表”（AIMS）以及“Burke Fahn Marsden 肌张力障碍评定量表”（BFMDRS）的运动部分评估了术前和术后的视频文件。所有患者报告主观整体改善率在 40%至 60%之间，尤其是夜间阵发性运动障碍的减少（80%-90%）。客观量表仅显示所有患者的不自主运动轻度减少，一名患者的肌张力障碍减轻。DBS 诱导的效果在植入后持续了 13 年。我们证明，苍白球 DBS 治疗对 ADCY5 相关运动障碍患者夜间运动障碍恶化有效，且长期持续。
