Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia

Eur J Neurol. 2007 Jun;14(6):659-62. doi: 10.1111/j.1468-1331.2007.01811.x.


DYT1 primary torsion dystonia is an autosomal dominant disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene. A significant proportion of individuals with early-onset generalized dystonia is believed to be DYT1 mutation carriers. We assessed the frequency of the GAG deletion in the DYT1 gene in a group of 61 Polish probands with clinical diagnosis of primary dystonia. The deletion was identified in four probands presenting with early-onset generalized disease (7%). Further studies in probands' families revealed two symptomatic and nine asymptomatic mutation carriers. We tested all mutation-positive individuals for the presence of some common polymorphisms within the DYT1 gene. Two of the 15 mutation-positive individuals additionally carried polymorphisms in 3'-UTR of the gene. Early onset in a limb and progression toward a generalized form, but not family history of dystonia, are indicative of DYT1 dystonia in Polish dystonic individuals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • DNA Mutational Analysis
  • Dystonic Disorders / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Middle Aged
  • Molecular Chaperones / genetics*
  • Poland / epidemiology


  • Molecular Chaperones
  • TOR1A protein, human