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.