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Keywords:

  • myoclonus–dystonia;
  • ϵ-sarcoglycan;
  • Tourette syndrome;
  • obsessive–compulsive disorder

Abstract

Mutations in the ϵ-sarcoglycan gene (SGCE) have been reported in families with myoclonus–dystonia (M-D). In addition to abnormal movements, obsessive–compulsive disorder (OCD) has also been described in families with M-D. OCD is a common feature in another movement disorder, namely Tourette syndrome (TS). The comorbidity of these disorders suggests that common genetic factors might be involved in their susceptibility. To evaluate this, we performed two sets of experiments. An association study using a polymorphism within an intron of the SGCE gene was assessed in patients with TS and OCD versus controls, and the SGCE gene itself was screened for mutations in all TS/OCD patients, followed by direct sequencing of the gene in a limited number of these patients. No correlation was found by either method. © 2004 Movement Disorder Society