Clinical features of Friedreich ataxia.

@article{Delatycki2012ClinicalFO,
  title={Clinical features of Friedreich ataxia.},
  author={Martin B. Delatycki and Louise A. Corben},
  journal={Journal of child neurology},
  year={2012},
  volume={27 9},
  pages={1133-7}
}
Friedreich ataxia, the most common hereditary ataxia, affects approximately 1 per 29,000 white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN; in the other 2%, it is due to compound heterozygosity for a GAA expansion and point mutation or deletion. The condition affects multiple sites in the central and peripheral nervous system as well as a number of other organ systems, resulting in multiple signs and… CONTINUE READING

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