Chapter 16 - Unverricht–Lundborg disease

Summary

Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder that has the highest incidence among the progressive myoclonus epilepsies worldwide. The primary therapeutic approaches for EPM1 patients include rehabilitation and symptomatic pharmacologic management. Pharmacologic intervention includes: valproic acid, clonazepam, high doses of piracetam, levetiracetam and topiramate and zonisamide. Several case reports suggest that treatment of EPM1 patients with the antioxidant N-acetylcysteine (NAC) alleviates key features of the disorder including dysarthria, ataxia, and seizures. Although the role of oxidative stress in EPM1-linked neuronal degeneration is not completely understood, a specific decrease in cerebellar defenses against oxidative stress and a concomitant increase in lipid peroxidation occurs in the mouse model for EPM1. Myoclonic seizures can also be easily misdiagnosed as tonic-clonic seizures or even pseudoepileptic seizures, especially as the majority of the myoclonic movements are not time-locked to electroencephalogram (EEG) discharges.