[Monogenetic dystonia: revisiting the dopaminergic hypothesis]

Rev Neurol (Paris). 2010 Apr;166(4):389-99. doi: 10.1016/j.neurol.2009.09.007.
[Article in French]

Abstract

Dystonias are clinically and genetically heterogeneous neurological disorders that affect movement, and are the focus of much investigative work. The recent identification of mutations in the gene THAP1 in DYT6 dystonia reopens the very interesting question of the in fine involvement of dopamine in the different types of dystonia. In this review, we will go through the recent literature in order to evaluate the many contributions to this theory as well as to highlight the difficulties in identifying a global regulatory pathway for the different forms of this disease that we are just starting to decipher.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Apoptosis Regulatory Proteins / genetics
  • DNA-Binding Proteins / genetics
  • Dopamine / physiology*
  • Dystonia Musculorum Deformans / genetics*
  • Dystonia Musculorum Deformans / physiopathology
  • Genetic Heterogeneity
  • Humans
  • Molecular Chaperones / genetics
  • Mutation / physiology
  • Nuclear Proteins / genetics

Substances

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