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POMD10 Do psychiatric disorders form part of the myoclonus-dystonia syndrome phenotype? A systematic review of published literature
  1. K Peall,
  2. D Perera,
  3. D J Blake,
  4. M J Owen,
  5. H R Morris
  1. Cardiff University School of Medicine, Cardiff, UK
  1. Correspondence to kathrynpeall{at}


Myoclonus–dystonia syndrome (MDS) is a rare movement disorder characterised by myoclonus mainly of the trunk and upper limbs in conjunction with dystonic posturing, usually of neck and hands. Mutations of the maternally imprinted epsilon-sarcoglycan (SGCE) gene cause autosomal dominant MDS in 30% of cases. Epsilon-sarcoglycan forms part of the dystrophin-associated glycoprotein complex (DAG) situated in the cell membrane, its neural function remains uncertain. Psychiatric disorders have frequently been described in MDS, suggesting that epsilon-sarcoglycan may have a role in psychiatric disease. We have conducted a systematic review of previous publications detailing SGCE mutation status and psychiatric disease. Inclusion criteria included: use of recognised MDS diagnostic criteria, a case control study design, SGCE status, and the use of standardised and validated psychiatric assessment tools. When data were pooled, these showed a significant association between SGCE mutations and psychiatric disease (p=0.028), including obsessive-compulsive disorders, depression and generalised anxiety disorder. This association was further strengthened when inclusion criteria were relaxed to include details of psychiatric diagnoses obtained by clinical history or patient self-report (p=0.012). This supports the view that psychiatric disorders form part of the MDS phenotype and that epsilon-sarcoglycan may have an important role to play.

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