Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

Mov Disord. 1998 Mar;13(2):339-40. doi: 10.1002/mds.870130223.

Abstract

Recently, a trinucleotide repeat expansion in intron 1 of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Chorea / genetics*
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Friedreich Ataxia / genetics*
  • Genes, Recessive / genetics
  • Genotype
  • Humans
  • Introns
  • Iron-Binding Proteins*
  • Male
  • Neurologic Examination
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Trinucleotide Repeats / genetics*

Substances

  • Iron-Binding Proteins
  • frataxin
  • Phosphotransferases (Alcohol Group Acceptor)