Friedreich ataxia: From genes to therapies?

Medical Journal of Australia

Volumn 182, Issue 9, 2005, Pages 439-

  Delatycki, Martin B ^a,b   Ioannou, Panos A ^a,b   Churchyard, Andrew J ^c  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c MONASH MEDICAL CENTRE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ANTIOXIDANT; FRATAXIN; IDEBENONE; IRON; MITOQUINONE; UBIDECARENONE; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CHELATION THERAPY; CLINICAL TRIAL; COMORBIDITY; COORDINATION; DIABETES MELLITUS; DISEASE ASSOCIATION; DISEASE COURSE; DYSARTHRIA; DYSPHAGIA; EDITORIAL; FOOT MALFORMATION; FRIEDREICH ATAXIA; GENE MUTATION; HEARING LOSS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IRON CHELATION; MORTALITY; NONHUMAN; ONSET AGE; OPTIC NERVE ATROPHY; PATHOGENESIS; POINT MUTATION; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; QUALITY OF LIFE; SCOLIOSIS; SYMPTOMATOLOGY; WHEELCHAIR;

EID: 18744384997     PISSN: 0025729X     EISSN: None     Source Type: Journal    
DOI: 10.5694/j.1326-5377.2005.tb06779.x     Document Type: Editorial

References (10)

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 redoxactive 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.