Abstract
We describe two affected individuals in a family with myoclonus-dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the epsilon-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Antiparkinson Agents / therapeutic use*
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Depressive Disorder, Major / diagnosis
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Depressive Disorder, Major / epidemiology*
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Depressive Disorder, Major / psychology*
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Drug Administration Schedule
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Dystonia* / drug therapy
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Dystonia* / epidemiology
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Dystonia* / genetics
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Exons / genetics*
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Gene Expression / genetics
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Humans
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Incidence
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Levodopa / therapeutic use*
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Male
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Myoclonus* / drug therapy
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Myoclonus* / epidemiology
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Myoclonus* / genetics
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Point Mutation / genetics*
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Sarcoglycans / genetics*
Substances
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Antiparkinson Agents
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Sarcoglycans
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Levodopa