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• W2032434406 abstract "Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and dystonia. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. Previous studies have suggested that patients with SGCE mutations may have an increased rate of psychiatric disorders. We established a cohort of patients with myoclonus dystonia syndrome and SGCE mutations to determine the extent to which psychiatric disorders form part of the disease phenotype. In all, 89 patients with clinically suspected myoclonus dystonia syndrome were recruited from the UK and Ireland. SGCE was analysed using direct sequencing and for copy number variants. In those patients where no mutation was found TOR1A (GAG deletion), GCH1, THAP1 and NKX2-1 were also sequenced. SGCE mutation positive cases were systematically assessed using standardized psychiatric interviews and questionnaires and compared with a disability-matched control group of patients with alcohol responsive tremor. Nineteen (21%) probands had a SGCE mutation, five of which were novel. Recruitment of family members increased the affected SGCE mutation positive group to 27 of whom 21 (77%) had psychiatric symptoms. Obsessive–compulsive disorder was eight times more likely (P < 0.001) in mutation positive cases, compulsivity being the predominant feature (P < 0.001). Generalized anxiety disorder (P = 0.003) and alcohol dependence (P = 0.02) were five times more likely in mutation positive cases than tremor controls. SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype. SGCE mutations are likely to have a pleiotropic effect in causing both motor and specific psychiatric symptoms." @default.
• W2032434406 created "2016-06-24" @default.
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• W2032434406 date "2013-01-01" @default.
• W2032434406 modified "2023-10-18" @default.
• W2032434406 title "SGCE mutations cause psychiatric disorders: clinical and genetic characterization" @default.
• W2032434406 cites W1490093678 @default.
• W2032434406 cites W1964985881 @default.
• W2032434406 cites W1968001864 @default.
• W2032434406 cites W1981345490 @default.
• W2032434406 cites W1988440322 @default.
• W2032434406 cites W1989666389 @default.
• W2032434406 cites W1992019494 @default.
• W2032434406 cites W1994303356 @default.
• W2032434406 cites W1996387459 @default.
• W2032434406 cites W2003061215 @default.
• W2032434406 cites W2005998129 @default.
• W2032434406 cites W2006001020 @default.
• W2032434406 cites W2009330986 @default.
• W2032434406 cites W2011861724 @default.
• W2032434406 cites W2012462860 @default.
• W2032434406 cites W2023913956 @default.
• W2032434406 cites W2025807465 @default.
• W2032434406 cites W2029549757 @default.
• W2032434406 cites W2030762262 @default.
• W2032434406 cites W2048473451 @default.
• W2032434406 cites W2048520527 @default.
• W2032434406 cites W2055463481 @default.
• W2032434406 cites W2056198790 @default.
• W2032434406 cites W2058740144 @default.
• W2032434406 cites W2059669176 @default.
• W2032434406 cites W2061288773 @default.
• W2032434406 cites W2061477598 @default.
• W2032434406 cites W2064183265 @default.
• W2032434406 cites W2064191047 @default.
• W2032434406 cites W2067498074 @default.
• W2032434406 cites W2069273024 @default.
• W2032434406 cites W2069476957 @default.
• W2032434406 cites W2069512971 @default.
• W2032434406 cites W2070176715 @default.
• W2032434406 cites W2071639940 @default.
• W2032434406 cites W2073725460 @default.
• W2032434406 cites W2081360205 @default.
• W2032434406 cites W2086546094 @default.
• W2032434406 cites W2089596767 @default.
• W2032434406 cites W2091626570 @default.
• W2032434406 cites W2093002445 @default.
• W2032434406 cites W2095278567 @default.
• W2032434406 cites W2098016509 @default.
• W2032434406 cites W2104903100 @default.
• W2032434406 cites W2105248862 @default.
• W2032434406 cites W2109985624 @default.
• W2032434406 cites W2110608362 @default.
• W2032434406 cites W2112058180 @default.
• W2032434406 cites W2112208397 @default.
• W2032434406 cites W2114420126 @default.
• W2032434406 cites W2116872982 @default.
• W2032434406 cites W2117165201 @default.
• W2032434406 cites W2120672491 @default.
• W2032434406 cites W2123822033 @default.
• W2032434406 cites W2125433750 @default.
• W2032434406 cites W2130203692 @default.
• W2032434406 cites W2131823335 @default.
• W2032434406 cites W2132322340 @default.
• W2032434406 cites W2134412934 @default.
• W2032434406 cites W2153120514 @default.
• W2032434406 cites W2159061031 @default.
• W2032434406 cites W2159372444 @default.
• W2032434406 cites W2165473852 @default.
• W2032434406 cites W2331485087 @default.
• W2032434406 cites W4233466550 @default.
• W2032434406 cites W4292806894 @default.
• W2032434406 doi "https://doi.org/10.1093/brain/aws308" @default.
• W2032434406 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4052887" @default.

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