Friedreich's ataxia mimicking hereditary motor and sensory neuropathy

J Neurol. 2002 Nov;249(11):1583-6. doi: 10.1007/s00415-002-0902-2.

Abstract

Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease.

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Child
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Diagnostic Errors*
  • Female
  • Friedreich Ataxia / diagnosis
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / physiopathology*
  • Genetic Testing
  • Humans
  • Male
  • Mutation / genetics*
  • Neural Conduction / genetics
  • Pedigree