Friedreich's ataxia: treatment within reach.
Friedreich's ataxia (FA) is the most prevalent cerebellar ataxia in children and adults in Europe. FA is one of a growing number of diseases known to be caused by triplet-repeat expansions. The causative mutation is a GAA trinucleotide-repeat expansion in the first intron of the frataxin gene. The mitochondrial localisation of frataxin and decreased oxidation activity in vivo and in vitro show that FA is a mitochondrial disease. Frataxin is involved in iron metabolism and may protect mitochondria from oxidative damage. The understanding of the disease has only just begun and possible treatments are within reach. In this review I discuss the clinical knowledge of FA and recent developments that have helped to elucidate the pathogenesis of the disease and made the first therapeutic attempts possible.
Dürr
Alexandra
A
INSERM U289 and Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Salpêtrière, Paris, France. durr@ccr.jussieu.fr
D005621:Friedreich Ataxia / Q000235:genetics / Q000628:therapy*; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D019680:Trinucleotide Repeat Expansion / Q000235:genetics / Q000502:physiology