Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene

Neurology. 2000 Jan 25;54(2):496-9. doi: 10.1212/wnl.54.2.496.

Abstract

We describe two sisters with early onset gait ataxia, rapid disease progression, absent or very mild dysarthria and upper limb dysmetria, retained knee jerks in one, slight to moderate peripheral nerve involvement, and diabetes. Molecular analysis showed that they are compound heterozygotes for GAA expansion and a novel exon 5a missense mutation (R165P). This mutation appears to be associated with an atypical but not milder Friedreich ataxia phenotype.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Frataxin
  • Friedreich Ataxia / genetics*
  • Humans
  • Iron-Binding Proteins*
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Polymerase Chain Reaction
  • Trinucleotide Repeats

Substances

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

Grants and funding