par Legros, Benjamin ;Zupanc, Mary M.L.
Référence Handbook of the Cerebellum and Cerebellar Disorders, Springer Netherlands, page (1923-1958)
Publication Publié, 2013-01
Partie d'ouvrage collectif
Résumé : Progressive myoclonic epilepsies (PME) are a group of rare disorders characterized by the occurrence of seizures, myoclonus, and progressive neurological dysfunction usually beginning in childhood and adolescence. This chapter discusses epidemiology, genetics, pathology, clinical manifestations, EEG characteristics, methods of diagnosis, and treatment of the most common causes of PME, including Unverricht-Lundborg disease (ULD, Baltic myoclonus), myoclonic epilepsy with ragged red fibers (MERRF), neuronal ceroid lipofuscinosis (NCL), dentatorubropallidoluysian atrophy (DRPLA), Gaucher disease (GD), Lafora disease (LD), and sialidosis. The aim of this chapter is to provide the clinicians with relevant clinical information in order to recognize these rare diseases and facilitate their treatments.