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Myoclonus Dystonia (MD; DYT11) is an early-onset hyperkinetic movement disorder with a prominent psychiatric phenotype caused by mutations in the E-sarcoglycan (SGCE) gene. Although its precise function is unknown, multiple… Click to show full abstract
Myoclonus Dystonia (MD; DYT11) is an early-onset hyperkinetic movement disorder with a prominent psychiatric phenotype caused by mutations in the E-sarcoglycan (SGCE) gene. Although its precise function is unknown, multiple studies suggest E-sarcoglycan to be involved in monoamine metabolism and neurotransmission. We report 4 patients with SGCE-mutation–positive MD associated with low cerebrospinal fluid (CSF) levels of the serotonin metabolite, 5-hydroxyindoleacetic acid. Patients and Methods
Journal Title: Movement Disorders
Year Published: 2017
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