Abstracts

Rationale: Juvenile myoclonic epilepsy (JME) is the most frequent of the idiopathic generalized epilepsies. Absences, Myoclonias and generalized seizures are the prominent neurological manifestations shown by the otherwise normal JME patients. Despite the prominent clinical and electroencephalographic features of the JME the neuropathological findings have been meager. Nevertheless, some recent morphometric studies have shown some cortical thickness abnormalities in JME patients. Nonetheless, these findings have not been corroborated by other authors. Our epilepsy consortium and other authors have identified myoclonin as an important enzyme playing a putative fundamental role on neuronal physiology and, perhaps also during early neurodevelopment . We have developed a myoclonin-deficient k-o mice as a JME laboratory model (ehfc1 -/-) . Methods: Expermental and wild mice were periodically sacrificed and perfused through their hearts. Their brains were carefully removed and processed with several neurohistological methods. For the very first time we present the results of our neuromorphological observations Results: 1) Gross macroscopic appearence of the encephalon of myoclonin-deficient mice is normal. 2) There is prominent supratentorial ventriculomegaly. 3) At the fissura choroidea level the choroid plexus appears smaller and out of its usual position. 4)Several cortical and subcortical regions show disorganized cytoarchitectural patterns. 5) Hippocampus shows a globose appearence. 6)Our preliminary scanning electron microscopy showed a prominent morphological disturbance and number decrement of the pendymal cells ciliae. Conclusions: These are the first observations of nerumorpholigical abnormalities observed in a JME laboratory model. We shall discuss the possible implications of these prominent changes in the physiopathogeny of JME.