Unusual phenotypic expression of the DYT1 mutation

Parkinsonism Relat Disord. 2003 Jun;9(5):277-9. doi: 10.1016/s1353-8020(02)00128-1.

Abstract

Highly variable phenotype expression has long been recognized in DYT1 carrier patients. We report here an Ashkenazi-Jewish woman who carried a DYT1 mutation and developed a predominant unilateral myoclonic-dystonia (MD) displaying a fluctuating course. The present case is the second supporting the variability of DYT1 phenotype and further illustrates its ability to mimic the MD syndrome.

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / genetics*
  • Dystonia / genetics*
  • Female
  • Humans
  • Middle Aged
  • Molecular Chaperones*
  • Myoclonus / genetics*
  • Pedigree
  • Phenotype

Substances

  • Carrier Proteins
  • Molecular Chaperones
  • TOR1A protein, human