进行性肌阵挛癫痫:来自成人神经科患者的单中心回顾性分析  

Progressive myoclonic epilepsy:a retrospective study of newly-diagnosed adult patients from a single center

作　　者：张建芳 周佳佳[1] 计彩红 吴登唱 王康[1] Zhang Jianfang;Zhou Jiajia;Ji Caihong;Wu Dengchang;Wang Kang(Department of Neurology,the First Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou,Zhejiang 310009,China)

机构地区：[1]浙江大学医学院附属第一医院神经内科,杭州310009

出　　处：《中华医学遗传学杂志》2024年第4期432-436,共5页Chinese Journal of Medical Genetics

摘　　要：目的回顾性总结和分析进行性肌阵挛癫痫(PME)患者的临床表型和基因型。方法收集2017年6月至2022年12月浙江大学医学院附属第一医院神经内科确诊的11例PME患者的临床资料,包括基本信息、脑电图、体感诱发电位、头颅MRI以及基因检测的结果,进行分析和总结。结果在纳入研究的11例PME患者中,男性4例,女性7例,就诊时均超过14岁。首发症状为肌阵挛者3例。通过基因检测明确诊断者8例,包括NEU1基因变异3例、EPM2A基因变异2例、MT-TK基因变异1例、ATN1基因变异1例、CSTB基因变异1例。有3例未发现明确的致病性变异。在8例确诊的患者中,符合唾液酸沉积症1型者有3例,拉福拉病(LBD)2例,齿状核红核苍白球路易体萎缩症(DRPLA)1例,波罗的海肌阵挛(EPM1)1例,肌阵挛癫痫伴破碎样红纤维(MERRF)1例。结论成人神经科确诊的PME亚型多在青少年和成年早期发病,病情进展相对缓慢,大多数患者的认知功能损害相对较轻。Objective To retrospectively analyze the clinical phenotype and pathogenic variants in patients with Progressive myoclonus epilepsy(PME).Methods Clinical data and results of genetic testing for 11 patients diagnosed with PME at the Department of Neurology,the First Affiliated Hospital of Zhejiang University School of Medicine from June 2017 to December 2022 were collected and analyzed.Results All of the patients,including 4 males and 7 females,had predominant action myoclonus.Three patients had myoclonus as the initial manifestation,whilst eight were diagnosed through genetic testing,including three cases with NEU1 gene variants,two with EPM2A gene variants(1 was novel),one with MT-TK gene variant,one with ATN1 gene variant,and one with CSTB gene variant.No pathogenic variant was identified in the remaining three cases.Among the eight patients with a genetic diagnosis,three were diagnosed with sialidosis,two with Lafora disease,one with Dentatorubral-pallidoluysian atrophy(DRPLA),one with Unverricht-Lundborg disease(ULD),and one with Myoclonic epilepsy with ragging red fibers(MERRF).Conclusion Compared with pediatric patients,adult patients with PME represent a distinct subtype with slower progression and milder cognitive impairment.

关 键 词：癫痫 肌阵挛性 表型 进行性肌阵挛癫痫 成人 

分 类 号：R742.1[医药卫生—神经病学与精神病学]