title: Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.
abstract: Physical symptoms of myoclonus dystonia due to epsilon-sarcoglycan mutations are well documented; however, the progression of neuropsychiatric and cognitive symptoms remains unclear. We present a case of a 34-year-old woman with early childhood onset of myoclonic jerks, dystonic posture and developmental delay due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene. Over time, she developed neuropsychiatric symptoms. She underwent bilateral deep brain stimulation of the ventral intermediate nucleus of the thalamus for her motor symptoms, which greatly improved but she exhibited slow deterioration of her neuropsychiatric and cognitive symptoms, particularly apathy, aggression and severe executive dysfunction.
authors.affiliation: a Memory Clinic , University Health Network , Toronto , ON , Canada.
authors.forename: Namita
authors.initials: N
authors.lastname: Multani
authors.affiliation: b Movement Disorders Unit, Department of Psychiatry and Neurology , Centre Hospitalier Universitaire de Grenoble , Grenoble , France.
authors.forename: Elena
authors.initials: E
authors.lastname: Moro
authors.affiliation: c Morton and Gloria Shulman Movement Disorder Unit and E.J. Safra Parkinson Disease Program, Toronto Western Hospital , UHN, University of Toronto , Toronto , ON , Canada.
authors.forename: Anthony
authors.initials: A
authors.lastname: Lang
authors.affiliation: d Department of Psychiatry , University Health Network, University of Toronto , Toronto , ON , Canada.
authors.forename: Mateusz
authors.initials: M
authors.lastname: Zurowski
authors.affiliation: c Morton and Gloria Shulman Movement Disorder Unit and E.J. Safra Parkinson Disease Program, Toronto Western Hospital , UHN, University of Toronto , Toronto , ON , Canada.
authors.forename: Sarah
authors.initials: S
authors.lastname: Duff Canning
authors.affiliation: a Memory Clinic , University Health Network , Toronto , ON , Canada.|e Tanz Centre for Research in Neurodegenerative Diseases, Krembil Discovery Tower University of Toronto , Toronto , ON , Canada.
authors.forename: Maria Carmela
authors.initials: MC
authors.lastname: Tartaglia
mesh_terms: D000328:Adult; D003072:Cognition Disorders / Q000150:complications / Q000235:genetics*; D018450:Disease Progression; D005091:Exons / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D001523:Mental Disorders / Q000150:complications / Q000235:genetics*; D008609:Mental Status Schedule; D009483:Neuropsychological Tests; D049031:Sarcoglycans / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D049031:Sarcoglycans
keywords: Myoclonus-dystonia syndrome; SGCE; cognition; deep brain stimulations; neuropsychiatry