Article Text

PDF
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}yahoo.co.uk

Abstract

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.

Statistics from Altmetric.com

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.