Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset

Ann Neurol. 1998 Jul;44(1):126-8. doi: 10.1002/ana.410440119.

Abstract

Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected sequentially both sides but did not progress to a generalized form of dystonia. We conclude that familial writer's cramp may be a manifestation of the DYT1 mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence*
  • DNA Mutational Analysis
  • Dystonia Musculorum Deformans / genetics*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Handwriting
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Muscle Cramp / genetics*
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Sequence Deletion*

Substances

  • Genetic Markers