Neurol. praxi. 2024;25(4):296-302 | DOI: 10.36290/neu.2024.046

Friedreich ataxia - what we have learned in 160 years

prof. MUDr. Martin Vališ, Ph.D., FEAN¹, MUDr. Simona Halúsková^{2, 3}, MUDr. David Matyáš⁴, MUDr. Pavlína Hemerková⁴

¹ Research Institute for Biomedical Science - Výzkumný ústav biomedicínských věd, z. ú., Hradec Králové

² Neurologická klinika FZS Univerzity Pardubice a Nemocnice Pardubického kraje, Pardubice

³ Lékařská fakulta UK v Hradci Králové

⁴ Neurologická klinika LF UK a FN v Hradci Králové

Friedreich ataxia (FA) is the most common form of hereditary ataxia with an autosomal recessive inheritance pattern. Mitochondrial dysfunction is a central contributor to pathology in FA, resulting from decreased levels of functional frataxin protein, coded by the FXN gene. Initial symptoms of FA usually appear around the beginning of the second decade of life between 10 and 15 years. There is currently no cure for FA, despite ongoing intensive research efforts. Omaveloxolone belongs to a specific class of medications known as Nrf2 (nuclear factor erythroid 2-related factor 2) modulators and it is the first drug approved for FA, directly applicable to the disease pathophysiology. Omaveloxolone offers a big hope to patients for slowing the progression of the disease and significant improvement in quality of life.

Keywords: Friedreich ataxia, frataxin, genetics, treatment, omaveloxolone.

Received: July 1, 2024; Revised: July 1, 2024; Accepted: July 1, 2024; Prepublished online: July 1, 2024; Published: September 10, 2024  Show citation