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Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy Lynch DR; Farmer JM; Balcer LJ; Wilson RBArch Neurol 2002[May]; 59 (5): 743-7The 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 abnormalities with consequent oxidant damage. The clinical spectrum of Friedreich ataxia has also expanded with the recognition of broader phenotypic features, including the absence of classical Friedreich ataxia features, later age at onset, and spasticity instead of ataxia. Although no proven therapy is yet available, antioxidants are a potential method for therapeutic intervention.|*Friedreich Ataxia/diagnosis/genetics/therapy[MESH]|Animals[MESH]|Humans[MESH] |
