title: Clinical findings of a myoclonus-dystonia family with two distinct mutations.
abstract: Myoclonus-dystonia has recently been associated with mutations in the epsilon-sarcoglycan gene (SCGE) on 7q21. Previously, the authors reported a patient with myoclonus-dystonia and an 18-bp deletion in the DYT1 gene on 9q34. The authors have now re-evaluated the patient harboring this deletion for mutations in the SGCE gene and identified a missense change. In the current study, the authors describe the clinical details of this family carrying mutations in two different dystonia genes. Further analysis of these mutations separately and together in cell culture and in animal models should clarify their functional consequences.
authors.affiliation: Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA. Dana.Doheny@mssm.edu
authors.forename: D
authors.initials: D
authors.lastname: Doheny
authors.forename: F
authors.initials: F
authors.lastname: Danisi
authors.forename: C
authors.initials: C
authors.lastname: Smith
authors.forename: C
authors.initials: C
authors.lastname: Morrison
authors.forename: M
authors.initials: M
authors.lastname: Velickovic
authors.forename: D
authors.initials: D
authors.lastname: De Leon
authors.forename: S B
authors.initials: SB
authors.lastname: Bressman
authors.forename: J
authors.initials: J
authors.lastname: Leung
authors.forename: L
authors.initials: L
authors.lastname: Ozelius
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: M F
authors.initials: MF
authors.lastname: Brin
authors.forename: J M
authors.initials: JM
authors.lastname: Silverman
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004421:Dystonia / Q000235:genetics* / Q000523:psychology; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D018832:Molecular Chaperones; D009154:Mutation / Q000235:genetics*; D009207:Myoclonus / Q000235:genetics* / Q000523:psychology; D009483:Neuropsychological Tests; D010375:Pedigree; D049031:Sarcoglycans
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D049031:Sarcoglycans; C108175:TOR1A protein, human