Emerging common molecular pathways for primary dystonia

Mark S. Ledoux, William T. Dauer, Thomas T. Warner

Research output: Contribution to journalReview articlepeer-review

34 Scopus citations


The dystonias are a group of hyperkinetic movement disorders whose principal cause is neuron dysfunction at 1 or more interconnected nodes of the motor system. The study of genes and proteins that cause familial dystonia provides critical information about the cellular pathways involved in this dysfunction, which disrupts the motor pathways at the systems level. In recent years study of the increasing number of DYT genes has implicated a number of cell functions that appear to be involved in the pathogenesis of dystonia. A review of the literature published in English-language publications available on PubMed relating to the genetics and cellular pathology of dystonia was performed. Numerous potential pathogenetic mechanisms have been identified. We describe those that fall into 3 emerging thematic groups: cell-cycle and transcriptional regulation in the nucleus, endoplasmic reticulum and nuclear envelope function, and control of synaptic function.

Original languageEnglish (US)
Pages (from-to)968-981
Number of pages14
JournalMovement Disorders
Issue number7
StatePublished - Jun 15 2013
Externally publishedYes


  • Cell cycle
  • DYT genes
  • Endoplasmic reticulum
  • Nuclear envelope
  • Synaptic function

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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