It is still questionable whether the screening for aprataxin mutation in Greek patients' Friedreich ataxia phenotype is of clinical importance; larger, multicenter studies are necessary to clarify this issue.
These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2).