201. Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.
- Author
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Multani, Namita, Moro, Elena, Lang, Anthony, Zurowski, Mateusz, Duff Canning, Sarah, and Tartaglia, Maria Carmela
- Subjects
NEUROPSYCHIATRY ,DISEASE progression ,EXONS (Genetics) ,EPSILON Aurigae ,SARCOGLYCANS ,COGNITION disorders ,CYTOSKELETAL proteins ,GENES ,LONGITUDINAL method ,MAGNETIC resonance imaging ,NEUROPSYCHOLOGICAL tests ,MENTAL illness ,GENETIC mutation ,PSYCHOLOGICAL tests ,GENETIC testing - 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. [ABSTRACT FROM AUTHOR] more...
- Published
- 2016
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