Phenotypic variability of the DYT1 mutation in German dystonia patients

Acta Neurol Scand. 1999 Apr;99(4):248-51. doi: 10.1111/j.1600-0404.1999.tb07356.x.

Abstract

Primary dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained involuntary muscle contractions causing repetitive movements and/or abnormal postures. Recently, the gene locus (DYT1) and mutation responsible for a substantial number of cases suffering from early-onset primary dystonia was described. Here we report 2 German families and 1 sporadic patient with early-onset dystonia due to the DYT1 mutation in order to illustrate the variability of clinical manifestation within this molecularly defined entity. We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Carrier Proteins / genetics*
  • Child
  • DNA Mutational Analysis
  • Dystonia / genetics*
  • Dystonia Musculorum Deformans / genetics*
  • Female
  • Genetic Variation*
  • Germany
  • Humans
  • Male
  • Molecular Chaperones*
  • Phenotype*
  • Point Mutation / genetics*

Substances

  • Carrier Proteins
  • Molecular Chaperones
  • TOR1A protein, human