Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.

Abstract

The discovery of the genetic cause of Friedreich ataxia has significantly affected our understanding of the disorder at both the clinical and basic science levels. Friedreich ataxia results from a deficiency of functional frataxin, a protein that appears to be involved in mitochondrial iron homeostasis. This leads to iron accumulation and mitochondrial… (More)

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Cite this paper

@article{Lynch2002FriedreichAE, title={Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.}, author={David R Lynch and Jennifer M. Farmer and Laura Joan Balcer and Robert B. Wilson}, journal={Archives of neurology}, year={2002}, volume={59 5}, pages={743-7} }