Friedreich's ataxia

J Child Neurol. 2002 May;17(5):315-9. doi: 10.1177/088307380201700501.

Abstract

Friedreich's ataxia is one of the most frequent hereditary ataxias of childhood. The disease is inherited in an autosomal recessive mode. The current state of knowledge concerning genetics, pathophysiology, pathology, clinical course, differential diagnosis, genotype-phenotype correlation, and therapy is presented.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Diagnosis, Differential
  • Exons / genetics
  • Friedreich Ataxia / diagnosis
  • Friedreich Ataxia / etiology
  • Friedreich Ataxia / genetics*
  • Genotype
  • Humans
  • Phenotype
  • Point Mutation / genetics