Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies

• Published in: Epilepsy research 2000-06, Vol.40 (1), p.33-39
• Main Authors: Ben-Menachem, Elinor, Kyllerman, Mårten, Marklund, Stefan
• Format: Article
• Language: English
• Subjects: Acetylcysteine - therapeutic use; Adult; Antioxidant therapy; Biological and medical sciences; Epilepsies, Myoclonic - blood; Epilepsies, Myoclonic - drug therapy; Epilepsies, Myoclonic - enzymology; Epilepsies, Myoclonic - physiopathology; Erythrocytes - enzymology; Female; Glutathione; Glutathione Peroxidase - metabolism; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Lafora Disease - blood; Lafora Disease - drug therapy; Lafora Disease - enzymology; Lafora Disease - physiopathology; Male; Medical sciences; Nervous system (semeiology, syndromes); Neurology; Progressive myoclonus epilepsy; Reference Values; Superoxide dismutase; Superoxide Dismutase - metabolism; Unverricht-Lundborg Syndrome - drug therapy; Unverricht-Lundborg Syndrome - metabolism; Unverricht-Lundborg Syndrome - physiopathology
• ISSN: 0920-1211; 1872-6844
• 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.