"Friedreich ataxia results from an expansion of an unstable GAA trinucleotide repeat in the FXN gene located on chromosome 9q 1,6,11. This gene encodes for frataxin, a protein that has multiple important roles in relation to iron in various tissues of the body, but most prominently the brain, heart and pancreas 11. Friedreich ataxia carries an autosomal recessive inheritance 1."
"may show thinning (reduction in AP diameter) of the cervical cord and medulla oblongata 2,13"
"Friedreich ataxia is thought to have an estimated prevalence of 1 in 20-50,000 14. There is no recognised significant gender predilection 14. It typically presents in childhood to adolescence 11. Those with a higher number of trinucleotide repeats (>500) are thought to present at an earlier age and with a more severe clinical phenotype 1."
"There are a wide variety of potential clinical manifestations 11:"
"Friedreich ataxia results from an expansion of an unstable GAA trinucleotide repeat in the FXN gene located on chromosome 9q 1,6,11. This gene encodes for frataxin, a protein that has multiple important roles in relation to iron in various tissues of the body, but most prominently the brain, heart and pancreas 11. Friedreich ataxia carries an autosomal recessive inheritance 1."