FXN and Friedreich ataxia: Since the elucidation of the molecular basis causing FRDA in 1996,5 several studies have been conducted to explore the types of mutations and the exact role of the mitochondrial membrane protein frataxin and its involvement in ISC pathway.6-8 More recently, with the application of advanced molecular diagnostic technologies along with whole exome sequencing, additional human disorders have been unveiled beyond FRDA.