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• W2331485087 abstract "Myoclonus-dystonia (M-D) is a movement disorder frequently caused by mutations in the epsilon-sarcoglycan gene (SGCE, DYT11). In several M-D families, psychiatric symptoms accompanying the motor symptoms have been reported, but a shared genetic etiology remains unclear.To assess neuropsychologic functioning and psychopathology in DYT11 mutation carriers (MC) and their family members using standardized neuropsychologic and psychiatric measures.Cognitive and behavioural characteristics of 27 DYT11 MC (14 symptomatic and 13 asymptomatic) and 42 control subjects from 1 large Dutch M-D family were studied. Neuropsychologic tests encompassed memory, language, mental speed, concentration, visuospatial function, and executive functions. Psychiatric assessment addressed qualitative (according to Diagnostic and Statistical Manual-IV criteria) as well as quantitative measures of depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD), using selfadministered and interview-based scales.No differences were observed on tests of cognitive functioning between DYT11 MC and controls. The frequency of Diagnostic and Statistical Manual-IV diagnoses was higher in the symptomatic DYT11 MC than in controls. The symptomatic DYT11 MC showed more depressive and anxiety symptoms, including panic attacks but no increase of OCD compared with controls. No differences were found between asymptomatic DYT11 MC and controls on any of the psychopathologic tests.Neither cognitive dysfunction nor OCD seems to be associated with the DYT11 phenotype in this large Dutch pedigree. Depressive and anxiety symptoms are increased in symptomatic, but not in asymptomatic DYT11 MC. Future research has to be carried out to determine whether the psychiatric symptoms are part of or secondary to the DYT11 phenotype." @default.
• W2331485087 created "2016-06-24" @default.
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• W2331485087 date "2009-06-01" @default.
• W2331485087 modified "2023-09-26" @default.
• W2331485087 title "Is Psychopathology Part of the Phenotypic Spectrum of Myoclonus-dystonia?" @default.
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• W2331485087 doi "https://doi.org/10.1097/wnn.0b013e3181a7228f" @default.
• W2331485087 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19506430" @default.
• W2331485087 hasPublicationYear "2009" @default.
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