Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong 251102, China.
Department of Neurology, Binzhou Medical University Hospital, Binzhou, Shandong 256603, China.
Chin Med J (Engl). 2018 Oct 20;131(20):2433-2438. doi: 10.4103/0366-6999.243568.
Treatment of myoclonic seizures in myoclonic epilepsy with ragged-red fibers (MERRFs) has been empirical and ineffective. Guideline on this disease is not available. Additional trials must be conducted to find more suitable treatments for it. In this study, the antimyoclonic effects of monotherapies, including levetiracetam (LEV), clonazepam (CZP), valproic acid (VPA), and topiramate (TPM) compared to combination therapy group with LEV and CZP on MERRF, were evaluated to find a more advantageous approach on the treatment of myoclonic seizures.
Treatments of myoclonic seizures with VPA, LEV, CZP, and TPM were reported as monotherapies in 17 MERRF patients from Qilu Hospital between 2003 and 2016, who were diagnosed through clinical data and genetic testing. After 1-4 months of follow-up (mean: 82.9 ± 28.1 days), 12 patients that exhibited poor responses to monotherapy were given a combined treatment consisting of LEV and CZP subsequently. The follow-up period was 4-144 months (mean: 66.3 ± 45.3 months), the effective rates of monotherapy group (17 patients) and combination therapy group (12 patients) were analyzed by Chi-square test.
The m.8344 A>G mutation was detected in all patients. There were four patients with partial response (4/17, two in the CZP group and two in the LEV group), ten patients with stable disease (10/17, six in the CZP group, three in the LEV group, and one in the TPM group), and three patients with progressive disease (3/18, two in the VPA group and one in the TPM group). Twelve of the patients with LEV combined with CZP showed a positive effect and good tolerance (12/12), eight of them demonstrated improved cognition and coordination. There was a significant difference between the monotherapy group and combination therapy group in the efficacy of antimyoclonic seizures (χ = 13.7, P < 0.001).
LEV in combination with CZP is an efficient and safe treatment for myoclonic seizures in patients with this disease exhibiting the m.8344A>G mutation.
肌阵挛性癫痫伴破碎红纤维（MERRF）的肌阵挛发作的治疗一直是经验性的，且无效。目前尚无针对这种疾病的指南。必须进行更多的试验，以找到更适合的治疗方法。在这项研究中，评估了左乙拉西坦（LEV）、氯硝西泮（CZP）、丙戊酸（VPA）和托吡酯（TPM）单药治疗与 LEV 和 CZP 联合治疗组对 MERRF 的抗肌阵挛作用，以寻找更有利的治疗肌阵挛发作的方法。
2003 年至 2016 年间，齐鲁医院的 17 例 MERRF 患者分别接受 VPA、LEV、CZP 和 TPM 治疗肌阵挛发作，这些患者通过临床数据和基因检测进行了诊断。在随访 1-4 个月（平均：82.9±28.1 天）后，12 例对单药治疗反应不佳的患者随后接受了 LEV 和 CZP 的联合治疗。随访时间为 4-144 个月（平均：66.3±45.3 个月），通过卡方检验分析单药治疗组（17 例）和联合治疗组（12 例）的有效率。
所有患者均检测到 m.8344A>G 突变。部分反应患者 4 例（4/17，CZP 组 2 例，LEV 组 2 例），病情稳定患者 10 例（10/17，CZP 组 6 例，LEV 组 3 例，TPM 组 1 例），病情进展患者 3 例（3/18，VPA 组 2 例，TPM 组 1 例）。12 例接受 LEV 联合 CZP 的患者显示出积极的效果和良好的耐受性（12/12），其中 8 例患者认知和协调能力得到改善。抗肌阵挛发作的疗效在单药治疗组和联合治疗组之间有显著差异（χ=13.7，P<0.001）。
LEV 联合 CZP 是治疗携带 m.8344A>G 突变的 MERRF 患者肌阵挛发作的有效且安全的方法。
