Saturday, February 22, 2025

Frataxin deficiency and the pathology of Friedreich's Ataxia across tissues

Ercanbrack WS, Ramirez M, Dungan A, Gaul E, Ercanbrack SJ, Wingert RA. Frataxin deficiency and the pathology of Friedreich's Ataxia across tissues. Tissue Barriers. 2025 Feb 21:2462357. doi: 10.1080/21688370.2025.2462357. Epub ahead of print. PMID: 39981684. 

Most FRDA patients suffer from loss of motor control, cardiomyopathy, scoliosis, foot deformities, and diabetes. In this review, we discuss the known features of FRDA pathology and the current understanding about the basis of these alterations.