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Pediatr Neurol. 2003 May;28(5):335-41.

Friedreich's ataxia.

Author information

  • 1Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15213, USA.

Abstract

Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis. Deficiency of frataxin results in mitochondrial iron accumulation, defects in specific mitochondrial enzymes, enhanced sensitivity to oxidative stress, and eventually free-radical mediated cell death. Friedreich's ataxia is considered a nuclear encoded mitochondrial disease. This review discusses the major and rapid progress made in Friedreich's ataxia from gene mapping and identification of the gene to pathogenesis and encouraging therapeutic implications.

PMID:
12878293
[PubMed - indexed for MEDLINE]
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