Friedreich’s ataxia

Czech version

Authors: A. Zumrová; L. Šťovíčková
Authors‘ workplace: Centrum hereditárních ataxií, Klinika dětské neurologie 2. LF UK a FN Motol, Praha
Published in: Cesk Slov Neurol N 2024; 87(6): 385-401
Category: Minimonography
doi: https://doi.org/10.48095/cccsnn2022385

Overview

Friedreich’s ataxia is an autosomal recessive inherited multisystem disorder that has been in neurological awareness for more than 160 years. Its genetic basis was discovered in 1996, and since then considerable efforts have been made to elucidate the function of the product of the mutated FXN gene – frataxin. The goal is to find an optimal biological or gene therapy for this otherwise relentlessly progressive disease, which disables the carrier of the biallelic mutation within a few years of the disease onset. Currently, the first drug is available, approved specifically for Friedreich’s ataxia, while others are in various stages of clinical trials. This fact leads to a completely different view of the necessity of early diagnosis of the disease at the level of DNA analysis; it is necessary to revise the findings in patients with progressive ataxia in whom the molecular genetic diagnosis has not yet been performed, and to consider specifically the possibility of Friedreich’s ataxia also in patients with cardiomyopathy or progressive scoliosis. The article summarizes current knowledge about Friedreich’s ataxia, draws attention to the newly discovered symptoms of the disease, and provides insights into the metabolism of frataxin. In conclusion, the current directions of targeted treatment research are summarized.

Keywords:

diagnosis – Neuroanatomy – therapy – Friedreich’s ataxia – mitochondrial disease – frataxin

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