Evaluation of the Cases with Friedreich Ataxia

Abstract

Friedreich ataxia is an autosomal recessive neurodegenerative disease, which is the most common cause of inherited ataxias. About 95% of the patients demonstrate an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene on chromosome 9q13. This leads to reduced levels of frataxin which has an important role in iron homeostasis. Friedreich ataxia is the result of accumulation of iron in mitochondria leading to excess production of free radicals, defects in specific mitochondrial enzymes, enhanced sensitivity to oxidative stress, and eventually freeradical mediated cell death. Currently there is no effective therapy for the disease, but antioxidant therapy has shown promise especially in cardiac involvement. Early identification of individuals with Friedreich ataxia and precise characterization of impairments and functional limitations gain importance as symptomatic treatment, rehabilitation and genetic counseling are considered. Here, we present the clinical findings of five cases with Friedreich ataxia who had homozygous GAA trinucleotide expansion and emphasize that Friedreich ataxia should be considered in the differential diagnosis of cases who present with progressive ataxia.