Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine.

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.

Prospective localization of epileptogenic foci: comparison of PET and SPECT with site of surgery and clinical outcome.

PURPOSE: To correlate prospective imaging findings in patients with intractable partial epilepsy with site of surgery and clinical outcome. MATERIALS AND METHODS: Thirty-five patients (25 male, 10 female) underwent positron emission tomography (PET; n=25), interictal single photon emission computed tomography (SPECT; n=33), or postictal SPECT (n=23) for localization of epileptogenic foci. The standard of reference was site of surgery. RESULTS: Sensitivity was 60%, 61%, and 52%; positive predictive value was 83%, 71%, and 55%; and localization was incorrect in 12% (three of 25 cases), 24% (eight of 33 cases), and 43% (10 of 23 cases) in PET, interictal SPECT, and postictal SPECT, respectively. There was no statistically significant difference in localization capabilities in a comparison of interictal SPECT and PET (correct localization, P=.999; incorrect localization, P=.625). There was a trend toward higher incorrect localization with interictal SPECT. CONCLUSION: Postictal SPECT has low sensitivity and a high incorrect localization rate and should not be performed in these patients. Interictal SPECT with 6-8-mm full-width at half-maximum is an alternative to PET. However, the trend toward higher false-localization rates must be taken into consideration.