New genetic insights highlight 'old' ideas on motor dysfunction in dystonia

Rose E. Goodchild, Kathrin Grundmann, Antonio Pisani

Research output: Contribution to journalArticlepeer-review


Primary dystonia is a poorly understood but common movement disorder. Recently, several new primary dystonia genes were identified that provide new insight into dystonia pathogenesis. The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). Furthermore, this pathway is also dysfunctional and pathogenically linked to mTOR signaling in L-DOPA-induced dyskinesias (LID). These new data suggest that striatal DA responses are central to primary dystonia, even when symptoms do not benefit from DA therapies. Here we integrate these new findings with current understanding of striatal microcircuitry and other dystonia-causing insults to develop new ideas on the pathophysiology of this incapacitating movement disorder.

Original languageEnglish
Pages (from-to)717-725
Number of pages9
JournalTrends in Neurosciences
Issue number12
Publication statusPublished - Dec 2013


  • Dopamine
  • Dystonia
  • GNAL/Gα(olf)
  • mTOR
  • Signal transduction
  • Striatum

ASJC Scopus subject areas

  • Neuroscience(all)

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