Hurd R W, Wilder B J, Helveston W R, Uthman B M
Neurology Service, Gainesville Veterans Affairs Medical Center, FL.
Neurology. 1996 Nov;47(5):1264-8. doi: 10.1212/wnl.47.5.1264.
The finding of increased activity of the enzyme extracellular superoxide dismutase in four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type (PME-UL) prompted the addition of antioxidants to these patients' treatment regimen. After 6 months treatment with vitamin E, selenium, riboflavin, and zinc, there was some improvement in patient awareness and speech. N-acetylcysteine (NAC) is a sulfhydryl antioxidant that increases cellular glutathione and the activity levels of several antioxidant enzymes and has additional actions that contribute to its demonstrated efficacy in preventing or decreasing damage in models of neuronal toxicity. We treated the affected siblings with 4 to 6 grams a day of NAC in addition to the other antioxidants and magnesium. There has been a marked decrease in myoclonus and some normalization of somatosensory evoked potentials with NAC treatment. The patients were treated with NAC for up to 30 months with continued beneficial effects. NAC may prevent further deterioration in the clinical course of patients with PME-UL and may be indicated in other neurodegenerative conditions where excess free radical activity may contribute to disease progression.
在四名患有昂韦勒-伦德伯格型进行性肌阵挛癫痫（PME-UL）的兄弟姐妹中，发现细胞外超氧化物歧化酶的活性增加，这促使在这些患者的治疗方案中添加抗氧化剂。在用维生素E、硒、核黄素和锌治疗6个月后，患者的意识和言语有了一些改善。N-乙酰半胱氨酸（NAC）是一种巯基抗氧化剂，可增加细胞内谷胱甘肽和几种抗氧化酶的活性水平，并具有其他作用，这有助于其在预防或减少神经元毒性模型中的损伤方面所显示的功效。除了其他抗氧化剂和镁之外，我们给受影响的兄弟姐妹每天服用4至6克NAC。使用NAC治疗后，肌阵挛明显减少，体感诱发电位也有一定程度的恢复正常。患者接受NAC治疗长达30个月，持续产生有益效果。NAC可能会防止PME-UL患者的临床病程进一步恶化，并且可能适用于其他自由基活性过高可能导致疾病进展的神经退行性疾病。
