Most cases are caused by a single mutation, paving the way for therapeutic advances for this fatal disease
Friedreich ataxia (FRDA), an autosomal recessive disease, is the commonest of the inherited ataxias’, affecting around 1 in 30 000 people.1 With an average age of onset of 10 years, those affected by this condition become wheelchair-bound on average 10 years after onset. The symptom that heralds onset in the vast majority of cases is increasing incoordination. Onset after 30 years of age is rare. Death ensues, on average, 36 years after disease onset and is largely due to hypertrophic cardiomyopathy.2 Other sources of morbidity in FRDA include an increased incidence of diabetes mellitus, dysarthria, swallowing difficulties, scoliosis, optic atrophy, hearing loss and foot deformity.1
The full article is accessible to AMA members and paid subscribers. Login to read more or purchase a subscription now.
Please note: institutional and Research4Life access to the MJA is now provided through Wiley Online Library.
- 1 Murdoch Childrens Research Institute, Melbourne, VIC.
- 2 Monash Institute for Neurological Disease, Monash Medical Centre, Melbourne, VIC.
- 1. Delatycki M, Williamson R, Forrest S. Friedreich ataxia: an overview. J Med Genet 2000; 37: 1-8.
- 2. Voncken M, Ioannou P, Delatycki MB. Friedreich ataxia — update on pathogenesis and possible therapies. Neurogenetics 2004; 5: 1-8.
- 3. Babcock M, Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh 1p, a putative homolog of frataxin. Science 1997; 276: 1709-1712.
- 4. Seznec H, Simon D, Bouton C, et al. Friedreich ataxia: the oxidative stress paradox. Hum Mol Genet 2004 Dec 22; [Epub ahead of print].
- 5. Richardson DR. Friedreich’s ataxia: iron chelators that target the mitochondrion as a therapeutic strategy? Expert Opin Investig Drugs 2003; 12: 235-245.
- 6. Lodi R, Hart PE, Rajagopalan B, et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich’s ataxia. Ann Neurol 2001; 49: 590-596.
- 7. Mariotti C, Solari A, Torta D, et al. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2003; 60: 1676-1679.
- 8. Kelso GF, Porteous CM, Coulter CV, et al. Selective targeting of a redox-active ubiquinone to mitochondria within cells: antioxidant and antiapoptotic properties. J Biol Chem 2001; 276: 4588-4596.
- 9. Sarsero JP, Li L, Wardan H, et al. Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. J Gene Med 2003; 5: 72-81.
- 10. Lynch DR, Farmer JM, Balcer LJ, Wilson RB. Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol 2002; 59: 743-747.