Ben-Menachem E, Kyllerman M, Marklund S
Department of Neurology, Sahlgrenska University Hospital, 413 45, Göteborg, Sweden.
Epilepsy Res. 2000 Jun;40(1):33-9. doi: 10.1016/s0920-1211(00)00096-6.
Progressive myoclonic epilepsies (EPM) are difficult to treat and refractory to most antiepileptic drugs. Besides epilepsy, EPMs also involve continuous neurological deterioration. Oxidative stress is thought to be an important factor in this process. We therefore analyzed a series of antioxidant enzymes in the blood of patients and compared with healthy age matched controls. In addition patients were given high doses of N-acetylcysteine (NAC), a glutathione percursor to determine if symptoms of EPM would improve. Five patients, four with EPM 1 (Unverricht-Lundborg disease) and one patient with EPM2 (Lafora body disease) were treated with 6 g/day of NAC. Before treatment, plasma samples were analyzed for glutathione peroxidase activity, catalase activity, extracellular superoxide dismutase (SOD) and CuZn-SOD and compared with the controls. Erythrocyte CuZn-SOD was significantly lower in the EPM patients compared to controls. NAC improved markedly and stabilized the neurological symptoms in patients with EPM 1 but had a doubtful effect in the patient with EPM 2.
进行性肌阵挛癫痫（EPM）难以治疗，对大多数抗癫痫药物均耐药。除癫痫外，EPM还会导致持续性神经功能恶化。氧化应激被认为是这一过程中的重要因素。因此，我们分析了患者血液中的一系列抗氧化酶，并与年龄匹配的健康对照者进行比较。此外，给予患者高剂量的N-乙酰半胱氨酸（NAC，一种谷胱甘肽前体），以确定EPM的症状是否会改善。5例患者，4例为EPM1（翁韦里希特-伦德伯格病），1例为EPM2（拉福拉体病），接受每日6 g的NAC治疗。治疗前，分析血浆样本中的谷胱甘肽过氧化物酶活性、过氧化氢酶活性、细胞外超氧化物歧化酶（SOD）和铜锌超氧化物歧化酶，并与对照组进行比较。与对照组相比，EPM患者的红细胞铜锌超氧化物歧化酶显著降低。NAC显著改善并稳定了EPM1患者的神经症状，但对EPM2患者的效果存疑。
