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.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):432-436. doi: 10.3760/cma.j.cn511374-20230214-00073.
To retrospectively analyze the clinical phenotype and pathogenic variants in patients with Progressive myoclonus epilepsy (PME).
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.
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).
Compared with pediatric patients, adult patients with PME represent a distinct subtype with slower progression and milder cognitive impairment.
回顾性分析进行性肌阵挛癫痫（PME）患者的临床表型和致病变异。
收集并分析2017年6月至2022年12月在浙江大学医学院附属第一医院神经内科确诊为PME的11例患者的临床资料和基因检测结果。
所有患者，包括4例男性和7例女性，均以动作性肌阵挛为主。3例患者以肌阵挛为首发表现，8例通过基因检测确诊，其中3例有NEU1基因变异，2例有EPM2A基因变异（1例为新发现变异），1例有MT-TK基因变异，1例有ATN1基因变异，1例有CSTB基因变异。其余3例未发现致病变异。在8例基因诊断的患者中，3例诊断为唾液酸贮积症，2例诊断为Lafora病，1例诊断为齿状核红核苍白球路易体萎缩症（DRPLA），1例诊断为Unverricht-Lundborg病（ULD），1例诊断为肌阵挛性癫痫伴破碎红纤维（MERRF）。
与儿童患者相比，成年PME患者代表一种不同的亚型，进展较慢，认知障碍较轻。
