title: Friedreich's ataxia.
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.
authors.affiliation: Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15213, USA.
authors.forename: Gulay
authors.initials: G
authors.lastname: Alper
authors.forename: Vinodh
authors.initials: V
authors.lastname: Narayanan
mesh_terms: D005621:Friedreich Ataxia / Q000235:genetics* / Q000378:metabolism* / Q000628:therapy; D006801:Humans; D033862:Iron-Binding Proteins / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism; D017354:Point Mutation / Q000502:physiology; D019680:Trinucleotide Repeat Expansion / Q000502:physiology; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin