title: Progressive myoclonus epilepsies. Criteria for diagnosis on the basis of the follow-up of 37 cases.
abstract: The authors report the clinical criteria for the diagnosis of progressive myoclonus epilepsies on the basis of their experience following 34 cases (2 with sialidosis, 2 with MERRF, 4 with Lafora disease, 24 with Unverricht-Lundborg type, 4 with ataxic myoclonus). 3 rare forms of PME are also reported: a case of lipoma and PME, a family with dentato-rubro-pallido-luysian atrophy and a family of myoclonus epilepsy, Hartung type. The autonomy of Ramsay Hunt syndrome is discussed on the light of recent molecular genetic data.
authors.affiliation: Istituto di Scienze Neurologiche, Facoltà di Medicina e Chirurgia, Universitä degli studi di Siena.
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004831:Epilepsies, Myoclonic / Q000145:classification / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008067:Lipoma / Q000150:complications; D017243:MERRF Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications; D002527:Myoclonic Cerebellar Dyssynergia / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree