Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene

Mov Disord. 2007 Jun 15;22(8):1173-5. doi: 10.1002/mds.21297.

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

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Antiparkinson Agents / therapeutic use*
  • Depressive Disorder, Major / diagnosis
  • Depressive Disorder, Major / epidemiology*
  • Depressive Disorder, Major / psychology*
  • Drug Administration Schedule
  • Dystonia* / drug therapy
  • Dystonia* / epidemiology
  • Dystonia* / genetics
  • Exons / genetics*
  • Gene Expression / genetics
  • Humans
  • Incidence
  • Levodopa / therapeutic use*
  • Male
  • Myoclonus* / drug therapy
  • Myoclonus* / epidemiology
  • Myoclonus* / genetics
  • Point Mutation / genetics*
  • Sarcoglycans / genetics*

Substances

  • Antiparkinson Agents
  • Sarcoglycans
  • Levodopa