A low FXN expression, primarily caused by an abnormal GAA triplet repeat expansion in the first intron of the frataxin gene, is associated with the neurodegenerative disease Friedreich’s ataxia (FRDA; OMIM 229300) [1]; in addition, several FXN point mutations including nonsense, missense, insertions and deletions have been associated with compound heterozygous FRDA patients [1,2,3,4]. Here, FXN is linked to Friedreich ataxia.