title: Cherry-red spot myoclonus syndrome (type I sialidosis).
abstract: The authors report the sequence of the clinical symptoms in type I sialidosis or cherry-red spot myoclonus syndrome, derived from the cases personally observed and from the literature. They also report neuropathological and neurochemical data. A serial EEG study in a case shows the tendency to a progressive deregulation of cerebral electric activity. Therapeutic attempts to reduce myoclonus, which is one of the more disabling symptoms in this syndrome, are described.
authors.affiliation: Istituto di Scienze Neurologiche, Facoltà di Medicina e Chirurgia, Università di Siena, Italia.
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: S
authors.initials: S
authors.lastname: Battistini
authors.forename: G
authors.initials: G
authors.lastname: Ciacci
authors.forename: N
authors.initials: N
authors.lastname: de Stefano
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: P
authors.initials: P
authors.lastname: Durand
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D002648:Child; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D005654:Fundus Oculi; D006801:Humans; D008099:Liver / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000150:complications / Q000201:enzymology / Q000473:pathology / Q000652:urine; D009439:Neuraminidase / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D013577:Syndrome
chemical_list: D000927:Anticonvulsants; D009844:Oligosaccharides; C016735:sialooligosaccharides; D009439:Neuraminidase