Myoclonic Epilepsy in Lysosomal Storage Disorders

摘要: Progressive myoclonic epilepsy (PME) constitutes an heterogeneous group of diseases, usually genetic origin, which begins in childhood and adolescence presents a variable evolution, ranging from slowly to rapidly progressive forms with refractory seizures dead within few years (Marseille Consensus Group, 1990). Despite its broad spectrum manifestations, patients affected PME share some common specific clinical electrophysiological features, such as: myoclonus, multiple type seizures, delay or regression psychomotor development, cerebellar ataxia, slow background activity on electroencephalogram (EEG), spikes waves induced by intermittent photo-stimulation sensory evoked giant potentials From the point view, occurs disorders presenting different inheritance, including: dentatorubralpallidolusyian atrophy (DRPLA), disease trinucleotide repeats, ragged red fibers (MERRF), mitochondrial autosomal recessive disorders, may be divided two main categories: non-lysosomal-related diseases as Lafora lysosomalrelated-disease lysosomal storage (LSDs). Lysosomal are severe caused defective proteins, cofactors integral membrane result intralysosomal accumulation undegraded metabolites sphingolipids, cholesterol, glycoproteins, mucopolysaccharides glycogen. Even if they individually rare, combined frequency LSDs is estimated approximately 1 8000 live births (Meilke et al., 1999; Poorthuis Applegarth 2000; Dionisi-Vici 2002; Pinto 2004; Poupetova 2010). More than 50 have been described date (Staretz-Chacham 2009). Although characterized wide phenotypes, many these present neurological impairment. Among symptoms, presence has reported LSDs, including Gaucher disease, action myoclonus-renal failure syndrome, neuronal ceroid lipofuscinoses, sialidosis, Niemann Pick C GM2 gangliosidosis. Each series sings symptoms. However, them biochemical signs impairments other organ useful diagnosis due LSD.