A combined nucleic Acid and protein analysis in friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians. The molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large cohort of FRDA patients, carriers and controls.

A combined nucleic Acid and protein analysis in friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design