Molecular pathways in dystonia

Neurobiol Dis. 2011 May;42(2):136-47. doi: 10.1016/j.nbd.2010.11.015. Epub 2010 Dec 4.


The hereditary dystonias comprise a set of diseases defined by a common constellation of motor deficits. These disorders are most likely associated with different molecular etiologies, many of which have yet to be elucidated. Here we discuss recent advances in three forms of hereditary dystonia, DYT1, DYT6 and DYT16, which share a similar clinical picture: onset in childhood or adolescence, progressive spread of symptoms with generalized involvement of body regions and a steady state affliction without treatment. Unlike DYT1, the genes responsible for DYT6 and DYT16 have only recently been identified, with relatively little information about the function of the encoded proteins. Nevertheless, recent data suggest that these proteins may fit together within interacting pathways involved in dopaminergic signaling, transcriptional regulation, and cellular stress responses. This review focuses on these molecular pathways, highlighting potential common themes among these dystonias which may serve as areas for future research. This article is part of a Special Issue entitled "Advances in dystonia".

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Apoptosis Regulatory Proteins / genetics
  • Apoptosis Regulatory Proteins / metabolism
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Dopamine / metabolism
  • Dystonia Musculorum Deformans / genetics*
  • Dystonia Musculorum Deformans / metabolism*
  • Dystonia Musculorum Deformans / physiopathology*
  • Humans
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism
  • Mutation
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • RNA-Binding Proteins / genetics
  • RNA-Binding Proteins / metabolism
  • Signal Transduction / physiology*
  • Synaptic Transmission / physiology*


  • Apoptosis Regulatory Proteins
  • DNA-Binding Proteins
  • Molecular Chaperones
  • Nuclear Proteins
  • PRKRA protein, human
  • RNA-Binding Proteins
  • THAP1 protein, human
  • TOR1A protein, human
  • Dopamine