Early onset of Friedreich's ataxia in a compound heterozygote

Arch Dis Child. 2000 Jul;83(1):74-5. doi: 10.1136/adc.83.1.74.

Abstract

Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. We describe an unusual form of "pseudodominant" inheritance to illustrate how a diagnosis of FA in a parent does not preclude the diagnosis in the child.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Child
  • Chromosomes, Human, Pair 9 / genetics
  • Female
  • Friedreich Ataxia / genetics*
  • Genes, Recessive / genetics
  • Heterozygote*
  • Humans
  • Pedigree
  • Point Mutation / genetics
  • Trinucleotide Repeat Expansion / genetics*