Friedreich's Ataxia

Friedreich's ataxia (FRDA) is an autosomal recessive disorder that causes ataxia, sensory loss, cardiomyopathy, skeletal abnormalities, and, in a proportion of patients, diabetes and optic atrophy. It is the most common inherited ataxia with an estimated prevalence of 1:29 000. Carrier prevalence is between 1:60 and 1:90. The responsible gene and its gene product, frataxin, have both been identified. Ongoing investigations into the function of frataxin and the pathophysiology of FRDA are opening up new avenues for therapeutic intervention in this devastating neurodegenerative disorder.