Friedreich's ataxia
- PMID: 12150575
- DOI: 10.1177/088307380201700501
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.
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