Friedreich ataxia: an overview.

  title={Friedreich ataxia: an overview.},
  author={Martin B. Delatycki and R. Williamson and Susan M. Forrest},
  journal={Journal of medical genetics},
  volume={37 1},
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition, FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the gene. This leads to reduced levels of the protein, frataxin. There is mounting evidence to suggest that Friedreich ataxia is… CONTINUE READING
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