Friedreich’s Ataxia and Variants
Detailed genetic and family studies emphasize the potential heterogeneity in presenting phenotype as well as age of onset of patients with FRDA. The discovery of the frataxin gene has allowed genotype–phenotype correlations and confirmation that the FRDA expansion is responsible for classical FRDA, late-onset FRDA (LOFA), Friedreich’s ataxia with retained reflexes (FARR), and Acadian ataxia.
Therapeutic approaches aimed at improving mitochondrial functioning and to increase frataxin expression, which may have lead to new realistic treatments in the future.