title: Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
abstract: Myoclonus-dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases.
authors.affiliation: Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milano, Italy. nnardocci@istituto-besta.it
authors.forename: Nardo
authors.initials: N
authors.lastname: Nardocci
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zorzi
authors.forename: Chiara
authors.initials: C
authors.lastname: Barzaghi
authors.forename: Federica
authors.initials: F
authors.lastname: Zibordi
authors.forename: Claudia
authors.initials: C
authors.lastname: Ciano
authors.forename: Daniele
authors.initials: D
authors.lastname: Ghezzi
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D018450:Disease Progression; D004421:Dystonia / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics; D018482:Muscle, Skeletal / Q000294:innervation / Q000503:physiopathology; D009207:Myoclonus / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics; D019154:Protein Splicing / Q000235:genetics; D049031:Sarcoglycans / Q000235:genetics; D013577:Syndrome; D034941:Upper Extremity / Q000503:physiopathology
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D018832:Molecular Chaperones; C526572:SGCE protein, human; D049031:Sarcoglycans; C108175:TOR1A protein, human