ARE PSYCHIATRIC SYMPTOMS A CORE PHENOTYPE OF MYOCLONUS DYSTONIA SYNDROME CAUSED BY SGCE MUTATIONS?. Issue 9 (6th August 2013)

• Record Type: Journal Article
• Authors: Peall, KJ; Smith, DJ; Kurian, MA; Wardle, M; Waite, AJ; Hedderly, T; Lin, JP; Smith, M; Whone, A; Pall, H; White, C; Lux, A; Jardine, P; Bajaj, N; Lynch, B; Kirov, G; O'Riordan, S; Samuel, M; Lynch, T; King, MD; Chinnery, PF; Warner, TT; Blake, DJ; Owen, MJ; Morris, HR
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 84:Issue 9(2013)
• Page Start: e1
• Page End: e1
• Publication Date: 2013-08-06
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2013-306103.24
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Objective: Myoclonus 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. Aims: To 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. Method: We 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. Results: There 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. > Conclusion: Overall 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.