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Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review

Authors

  • Kathryn J. Peall MRCP,

    Corresponding author
    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
    • MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Henry Wellcome Building, Heath Park, Cardiff, CF14 4XN, UK
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  • Adrian J. Waite DPhil,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
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  • Derek J. Blake DPhil,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
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  • Mike J. Owen PhD, FRCPsych,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
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  • Huw R. Morris PhD, FRCP

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
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  • Relevant conflicts of interest/financial disclosures: Dr. Kathryn J. Peall is funded by an IPSEN Fund Clinical Research Fellowship and the Wales Clinical Academic Training Scheme.

  • Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Background:

Mutations in the maternally imprinted epsilon-sarcoglycan gene occur in 30%–50% of myoclonus-dystonia cases. Psychiatric symptoms, particularly obsessive-compulsive disorder, have been described in some patients.

Methods:

We systematically reviewed 22 reports of psychiatric symptoms in myoclonus-dystonia, dividing individuals according to clinical and mutation status.

Results:

Clinically manifesting mutation carriers demonstrated an excess of psychiatric disorders compared with nonmutation carriers (P < .001). No differences were seen between non-motor-manifesting carriers and nonmutation carriers with the exception of alcohol excess/dependence, higher in non-motor-manifesting carriers.

Conclusions:

The results confirm the association of epsilon-sarcoglycan gene mutations with psychiatric disease and suggest a possible separation of the motor and psychiatric effects. © 2011 Movement Disorder Society

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