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

Mov Disord. 2011 Aug 15;26(10):1939-42. doi: 10.1002/mds.23791. Epub 2011 Jun 28.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Dystonic Disorders / genetics*
  • Genetic Predisposition to Disease*
  • Humans
  • Mental Disorders / genetics*
  • Mutation / genetics*
  • Sarcoglycans / genetics*


  • Sarcoglycans

Supplementary concepts

  • Myoclonic dystonia