title: SGCZ mutations are unlikely to be associated with myoclonus dystonia.
abstract: BACKGROUND
  Myoclonus dystonia syndrome (MDS) is a hyperkinetic movement disorder caused, in a proportion of cases, by mutations of the maternally imprinted epsilon-sarcoglycan gene (SGCE). SGCE mutation rates vary between cohorts, suggesting genetic heterogeneity. E- and ζ-sarcoglycan are both expressed in brain tissue. In this study we tested whether zeta-sarcoglycan gene (SGCZ) mutations also contribute to this disorder.
  
  
  METHODS
  Patients with clinically suspected MDS and no SGCE mutation were recruited and classified, according to previously published criteria, as to their likelihood of the movement disorder. All SGCZ exons and intron/exon boundaries were screened by direct sequencing.
  
  
  RESULTS
  Fifty-four SGCE mutation-negative patients were recruited from the UK and the Netherlands. Subdivided according to the likelihood of the movement disorder resulted in 17 'definite', 16 'probable' and 21 'possible' cases. No pathogenic SGCZ mutations were identified.
  
  
  CONCLUSIONS
  SGCZ mutations are unlikely to contribute to the genetic heterogeneity in MDS.
authors.affiliation: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, School of Medicine, Cardiff University, UK. Electronic address: PeallKJ@cardiff.ac.uk.
authors.forename: K J
authors.initials: KJ
authors.lastname: Peall
authors.affiliation: Department of Genome Analysis, Amsterdam Medical Centre, Amsterdam, The Netherlands. Electronic address: k.a.ritz@amc.uva.nl.
authors.forename: K
authors.initials: K
authors.lastname: Ritz
authors.affiliation: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, School of Medicine, Cardiff University, UK. Electronic address: waitea@cardiff.ac.uk.
authors.forename: A J
authors.initials: AJ
authors.lastname: Waite
authors.affiliation: Department of Genome Analysis, Amsterdam Medical Centre, Amsterdam, The Netherlands. Electronic address: J.L.Groen@lumc.nl.
authors.forename: J L
authors.initials: JL
authors.lastname: Groen
authors.affiliation: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, School of Medicine, Cardiff University, UK. Electronic address: huwmorris@gmail.com.
authors.forename: H R
authors.initials: HR
authors.lastname: Morris
authors.affiliation: Department of Genome Analysis, Amsterdam Medical Centre, Amsterdam, The Netherlands. Electronic address: f.baas@amc.uva.nl.
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.affiliation: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, School of Medicine, Cardiff University, UK. Electronic address: blakedj@cardiff.ac.uk.
authors.forename: D J
authors.initials: DJ
authors.lastname: Blake
authors.affiliation: University of Groningen, Groningen, The Netherlands. Electronic address: m.a.j.de.koning-tijssen@umcg.nl.
authors.forename: M A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009207:Myoclonus / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*; D055815:Young Adult
chemical_list: D049031:Sarcoglycans; C000597210:sarcoglycan, zeta, human
keywords: SGCZ mutations; myoclonus dystonia syndrome