Friedreich ataxia: an overview

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene tha t is mutated in this condition, FRDA, has led to rapid advances in the unde rstanding of the pathogenesis of Friedreich ataxia. About 98% of mutant all eles have an expansion of a GAA trinucleotide repeat in intron 1 of the gen e. This leads to reduced levels of the protein, frataxin. There is mounting evidence to suggest that Friedreich ataxia is the result of accumulation o f iron in mitochondria leading to excess production of free radicals, which then results in cellular damage and death. Currently there is no known tre atment that alters the natural course of the disease. The discovery of the FRDA gene and its possible function has raised hope that rational therapeut ic strategies will be developed.