Friedreich's ataxia.
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.
Pilch
Jacek
J
Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland. sk@sk6.katowice.pl
Jamroz
Ewa
E
Marszał
Elzbieta
E
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