The best evidence for progressive myoclonic epilepsy: a pathway to precision therapy

Publication date: Available online 23 August 2019Source: SeizureAuthor(s): Alessandro Orsini, Angelo Valetto, Veronica Bertini, Mariagrazia Esposito, Niccolò Carli, Berge A. Minassian, Alice Bonuccelli, Diego Peroni, Roberto Michelucci, Pasquale StrianoAbstractProgressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epileptic encephalopathies, which start with polymorphic seizures in early infancy. Neurophysiologic recordings are suited to describe faithfully the time course of the shock-like muscle contractions which characterize myoclonus. A combination of positive and negative myoclonus is typical of PMEs. The gene defects for most PMEs (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. PMEs are uncommon disorders, difficult to diagnose in the absence of extensive experience. Thus, aetiology is undetermined in many patients, despite the advance in molecular medicine. Treatment of PMEs remains essentially symptomaticof seizures and myoclonus, together with palliative, supportive, and rehabilitative measures. The response to therapy ma...

Source: Seizure - August 24, 2019 Category: Neurology Source Type: research