Sialidosis type 1: Long-term care of two unrelated patients and effectiveness of low doses of Perampanel

Sialidosis type 1 is a rare autosomal recessive disease, considered among the progressive myoclonous epilepsies (PME) and characterized by cortical myoclonous, seizures, ataxia, macular cherry-red spot and visual defects1. Recent clinical studies show a significative effectiveness of Perampanel (PER) on myoclonous and seizures in some cases of PME2,3. We describe a comprehensive clinical, neuroradiological, electrophysiological and ophtalmological long-term follow-up of two unrelated patients affected by Sialidosis type 1. Furthermore, we assess the effectiveness on myoclonous and tolerability of PER in add-on.