Emerging Therapies in Friedreich’s Ataxia: A Review

Abstract

Friedreich’s ataxia (FRDA) is an inherited, neurodegenerative disease that typically presents in childhood and results in progressive gait and limb ataxia, with the extraneural features of hypertrophic cardiomyopathy, diabetes and scoliosis. The genetic defect results in a deficiency of frataxin protein, which is important for mitochondrial function, especially in the brain and heart. Drug development has approached FRDA through pathways addressing oxidative stress, mitochondrial dysfunction, frataxin protein deficiency and DNA transcriptional deficiency, paving the way for the first disease-modifying drugs for FRDA.