Genetic and clinical features of primary torsion dystonia

Neurobiol Dis. 2011 May;42(2):127-35. doi: 10.1016/j.nbd.2010.12.012. Epub 2010 Dec 17.


Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and discuss the responsible gene. 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

  • Age of Onset
  • Dystonia Musculorum Deformans / genetics*
  • Dystonia Musculorum Deformans / physiopathology*
  • Humans
  • Phenotype