Friedreich ataxia (FRDA) is the most common single-gene autosomal recessive ataxia disease, caused by frataxin (FXN) gene mutation, with a prevalence estimated at about 1 to 50,000 and a calculated carrier frequency of ≈ 1 into 120 in Caucasian populations1. The gene discussed is FXN; the disease is Friedreich ataxia.