title: Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
abstract: We describe two affected individuals in a family with myoclonus-dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the epsilon-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression.
authors.affiliation: Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.
authors.forename: Anjum
authors.initials: A
authors.lastname: Misbahuddin
authors.forename: Mark
authors.initials: M
authors.lastname: Placzek
authors.forename: Graham
authors.initials: G
authors.lastname: Lennox
authors.forename: Jan-Willem
authors.initials: JW
authors.lastname: Taanman
authors.forename: Thomas T
authors.initials: TT
authors.lastname: Warner
mesh_terms: D000328:Adult; D000368:Aged; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D003865:Major Depressive Disorder / Q000175:diagnosis / Q000453:epidemiology* / Q000523:psychology*; D004334:Drug Administration Schedule; D004421:Dystonia / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics; D005091:Exons / Q000235:genetics*; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D015994:Incidence; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D009207:Myoclonus / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*
chemical_list: D000978:Antiparkinson Agents; D049031:Sarcoglycans; D007980:Levodopa