Background： 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 ...Background： 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 ofmonotherapies, 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. Methods： 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 oflbllow-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 lbllow-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. Results： The m.8344 A〉G mutation was detected in all patients. There were lbur 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 gToup in the efficacy ofantimyoclonic seizures （χ^2 = 13.7, P 〈 0.001 ）. Conclusions： LEV in combination with CZP is an efficient and sale treatment for myoclonic seizures in patients with this disease exhibiting the m.8344A〉G mutation.展开更多
基金This study wassupported partly by grants from the National Natural Science Foundation of China （No. 81873786）, Programs for Science and Technology Development of Jinan （No. 201704102）, Lateral Chimerism Project of Shandong University （No. 12671731）, and the Programs for Science and Technology Development of Binzhou （No. 2014ZC0136）.
文摘Background： 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 ofmonotherapies, 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. Methods： 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 oflbllow-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 lbllow-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. Results： The m.8344 A〉G mutation was detected in all patients. There were lbur 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 gToup in the efficacy ofantimyoclonic seizures （χ^2 = 13.7, P 〈 0.001 ）. Conclusions： LEV in combination with CZP is an efficient and sale treatment for myoclonic seizures in patients with this disease exhibiting the m.8344A〉G mutation.
