BACKGROUND Angelman syndrome (AS) is a neurodegenerative disorder caused by functional loss of the maternal ubiquitin-protein ligase 3A gene. Nonepileptic myoclonus, also described as tremulous movement, often occurs during puberty and increases in adulthood. The involuntary movement in AS has not been defined patho-physiologically and the drugs used such as levetiracetam and piracetam are not always effective. Recently, the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptor antagonist, perampanel (PER), was used to alleviate myoclonus in progressive myoclonus epilepsy. Herein, we tested the efficacy of PER for nonepileptic myoclonus. METHODS AND RESULTS Four patients with AS, aged from 20 to 40 years at the beginning of treatment, were enrolled in our study. All patients reported disruption to their daily lives from the myoclonus movement. They experienced mild to moderate improvement with the starting dose of 2 mg. The dose was increased to 4 mg in one patient to achieve sufficient efficacy, while two had their dose reduced to 1 mg due to dizziness or possible exacerbation of myoclonus. The last patient continued to take the starting dose. Follow-up over 16-20 months revealed a significant reduction in the severity of nonepileptic myoclonus in all patients. CONCLUSION Our study suggests that PER could be one of the promising drugs for nonepileptic myoclonus in AS.

中文翻译：

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吡仑帕奈治疗 Angelman 综合征非癫痫性肌阵挛

背景Angelman 综合征(AS) 是一种神经退行性疾病，由母体泛素蛋白连接酶3A 基因的功能丧失引起。非癫痫性肌阵挛，也称为震颤运动，通常发生在青春期，并在成年期增加。AS 中的不自主运动尚未在病理生理学上进行定义，所使用的药物如左乙拉西坦和吡拉西坦并不总是有效。最近，α-氨基-3-羟基-5-甲基-4-异恶唑丙酸酯 (AMPA) 受体拮抗剂 perampanel (PER) 用于缓解进行性肌阵挛癫痫中的肌阵挛。在此，我们测试了 PER 对非癫痫性肌阵挛的疗效。方法和结果 4 名 AS 患者在治疗开始时年龄在 20 至 40 岁之间，参加了我们的研究。所有患者都报告说，肌阵挛运动对他们的日常生活造成了干扰。他们在 2 毫克的起始剂量下经历了轻度到中度的改善。一名患者的剂量增加到 4 mg 以达到足够的疗效，而两名患者由于头晕或肌阵挛可能恶化而将剂量减少到 1 mg。最后一名患者继续服用起始剂量。16-20 个月的随访显示，所有患者的非癫痫性肌阵挛的严重程度均显着降低。结论 我们的研究表明，PER 可能是治疗 AS 非癫痫性肌阵挛的有前景的药物之一。另有两人因头晕或肌阵挛可能加重而将剂量减至 1 毫克。最后一名患者继续服用起始剂量。16-20 个月的随访显示，所有患者的非癫痫性肌阵挛的严重程度均显着降低。结论 我们的研究表明，PER 可能是治疗 AS 非癫痫性肌阵挛的有前景的药物之一。另有两人因头晕或肌阵挛可能加重而将剂量减至 1 毫克。最后一名患者继续服用起始剂量。16-20 个月的随访显示，所有患者的非癫痫性肌阵挛的严重程度均显着降低。结论 我们的研究表明，PER 可能是治疗 AS 非癫痫性肌阵挛的有前景的药物之一。