ARE PSYCHIATRIC SYMPTOMS A CORE PHENOTYPE OF MYOCLONUS DYSTONIA SYNDROME CAUSED BY SGCE MUTATIONS?


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Abstract

ObjectiveMyoclonus Dystonia Syndrome (MDS) is a childhood onset, alcohol responsive movement disorder caused by mutations in the SGCE gene in a proportion of cases. Single family and case series have suggested co-morbid psychiatric disease but have not compared cases to a control group.AimsTo establish a cohort of MDS patients with SGCE mutations and a control group of alcohol-responsive tremor patients, and to systematically assess for psychiatric symptoms using standardised questionnaires.MethodWe collected 27 patients with SGCE mutations and 45 tremor control cases. The MINI International Neuropsychiatric Interview, PHQ-9, MADRS, YBOCS and AUDIT were used to assess psychiatric disease according to DSM-IV criteria.ResultsThere was a higher rate of psychiatric disease in MDS patients compared to controls (p<0.05), specifically social phobia (p><0.05) and Obsessive-Compulsive disease (OCD) (p><0.001). Excess alcohol use was higher amongst the MDS group once cases ><18yrs were excluded. >ConclusionOverall psychiatric disease is elevated amongst the MDS cohort compared to a control group with a chronic, socially stigmatizing disorder. OCD appears to be the greatest contributor to this effect and may reflect a pleiotropic function for the SGCE gene.

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