Friedreich’s Ataxia and rehabilitation: A Review of Literature

Volume 20 No 7 (2022)

Vaishnavi Deshpande, Shweta Thorat, Akash Tandale, Pallavi Palaskar

DOI: 10.14704/nq.2022.20.7.NQ33343

Abstract

The most prevalent inherited ataxia is Friedreich's ataxia. The development of a GAA triplet inside the first intron of the frataxin gene on chromosome 9q13 is to blame. Homozygosity for a GAA repeat expansion can be detected in intron 1 of the FXN gene in around 96 percent of affected persons. Reduced iron-sulfur cluster formation and mitochondrial ATP generation, as well as increased mitochondrial iron and oxidative stress, are all caused by a lack of frataxin protein

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