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 基因的突变可导致复杂的多动性运动障碍。运动障碍的发作性加重是一个特别令人不安的症状，因为它们主要发生在夜间并中断睡眠。我们在三名确诊为致病性 ADCY5 突变的患者中展示了苍白球深部脑刺激 (DBS) 的临床短期和长期影响。患者在 34、20 和 13 岁时植入双侧苍白球 DBS。审查医疗记录以了解临床病史。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）的运动部分评估术前和术后视频文件。所有患者都报告了从 40% 到 60% 的主观总体改善，尤其是夜间发作性运动障碍的减少 (80-90%)。客观量表显示，所有患者的不自主运动仅轻度减少，一名患者的肌张力障碍减少。DBS 诱导的效应在植入后持续长达 13 年。我们证明，用苍白球 DBS 治疗可有效减少 ADCY5 相关运动障碍患者的夜间运动障碍加重，这种情况长期持续存在。