title: Friedreich's ataxia.
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.
authors.affiliation: Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland. sk@sk6.katowice.pl
authors.forename: Jacek
authors.initials: J
authors.lastname: Pilch
authors.forename: Ewa
authors.initials: E
authors.lastname: Jamroz
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Marszał
mesh_terms: D017668:Age of Onset; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics