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Psychiatric and movement disorders may share genetic link
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Rapid-onset dystonia-parkinsonism may be genetically related to a range of psychiatric problems including anxiety, mood disorders and substance use dependence, according to the results of a 4-year, $2.5 million study funded by the National Institute of Neurological Disorders and Stroke. Caused by a rare genetic mutation (ATP1A3), there are fewer than 50 estimated cases of rapid-onset dystonia-parkinsonism worldwide.
“RPD often occurs suddenly after a stressful episode, such as running a marathon or childbirth,” study researcher Allison Brashear, MD, chair of neurology at Wake Forest Baptist Medical Center, said in a press release.
Brashear and colleagues examined 56 individuals — 29 with the genetic mutation a control group of 27 family members without the mutation. Participants underwent physical and neurological examinations, and were also assessed for lifetime history of psychiatric disorders using numerous standard, valid measures.
Participants with the ATP1A3 genetic mutation who did not have motor symptoms did not report any history of psychiatric disorders, according to the researchers. Compared with participants in the control group, those with motor symptoms reported more symptoms of anxiety (41% vs. 48%), mood (22% vs. 50%), psychotic (0% vs. 19%) and substance abuse/dependence (27% vs. 38%) disorders.
Psychotic symptoms tended to present themselves prior to or during the onset of motor symptoms in participants with the ATP1A3 mutation, the researchers said. According to Brashear and colleagues, psychiatric disorders may be another expression of the same genetic mutation.
“Our finding of significantly higher prevalence of mood disorders and psychosis in [rapid-onset dystonia-parkinsonism] patients with motor symptoms supports our hypothesis that ATP1A3mutations present with a wide spectrum of features, both motor and non-motor,” they wrote. “These findings are observed across multiple families with distinct ATP1A3 mutations, and are consistent with previous reports of depression in individuals with motor-manifesting ATP1A3 mutations.”
Disclosure: See the study for a full list of financial disclosures.