进行性肌阵挛癫痫的治疗进展

Progress in the treatment of progressive myoclonic epilepsies

进行性肌阵挛癫痫(PMEs)是一组罕见的遗传性疾病。常见的临床表现包括动作性肌阵挛常伴全面强直阵挛发作、认知障碍以及其他局灶性神经功能缺损等。PMEs对抗癫痫发作药物的反应一般较差,总体预后差。可以导致PMEs的疾病包括Unverricht-Lundborg病、Lafora病、神经元蜡样脂褐质沉积症、肌阵挛性癫痫伴破碎样红纤维综合征、唾液酸沉积症、齿状核红核苍白球路易体萎缩症等。目前PMEs的治疗包括药物治疗、神经调控治疗、饮食治疗、抗炎和免疫调节治疗、酶替代治疗和基因治疗等。文中对目前已知的PMEs治疗进行综述,为更好地研究和探索PMEs的治疗方法提供思路。

Progressive myoclonic epilepsies(PMEs)are a group of rare genetic diseases.Common clinical manifestations include action myoclonus often with generalized tonic-clonic seizures,cognitive impairment and other focal neurological deficits.PMEs generally respond poorly to antiseizure drugs and have a poor overall prognosis.Disorders that can cause PMEs include Unverricht-Lundborg disease,Lafora disease,neuronal ceroid lipofuscinosis,myoclonic epilepsy with fragmented red fiber syndrome,sialic acidosis,dentate erythronucleus pallidus Lewy body atrophy,etc.The current treatments for PMEs include drug therapy,neuromodulatory therapy,dietary therapy,anti-inflammatory and immunomodulatory therapy,enzyme replacement therapy and gene therapy.This article reviews the currently known treatments for PMEs,and provides ideas for better research and exploration of treatments for PMEs.