This article reviews the currently approved and most promising candidate pharmacotherapies in relation to the known disease mechanisms of the most prevalent autosomal recessive ataxias. Omaveloxolone is an Nrf2 activator that increases antioxidant defense and was recently approved for treatment of Friedreich ataxia. Its therapeutic effect is modest, and further research is needed to find synergistic treatments that would halt or reverse disease progression. Promising approaches include upregulation of frataxin expression by epigenetic mechanisms, direct protein replacement, and gene replacement therapy.
Tuesday, August 13, 2024
The importance of synthetic pharmacotherapy for recessive cerebellar ataxias
Beaudin, M., Dupre, N., & Manto, M. (2024). The importance of synthetic pharmacotherapy for recessive cerebellar ataxias. Expert Review of Neurotherapeutics, 24(9), 897-912. doi:10.1080/14737175.2024.2376840
