Tuesday, December 23, 2025

Respiratory Function in Friedreich's Ataxia

Viana CF, Jaques CS, Bezerra MLE, Barsottini OGP, Pedroso JL. Respiratory Function in Friedreich's Ataxia. Mov Disord. 2025 Dec 19. doi: 10.1002/mds.70162. Epub ahead of print. PMID: 41416841. 

FA patients exhibited significantly reduced forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1), alongside decreased maximal respiratory pressures (P < 0.01). A restrictive ventilatory pattern predominated. Peripheral oxygen saturation was lower in the FA group (P < 0.01). 
Respiratory impairment appears mostly subclinical, suggesting that FA patients may be vulnerable to pulmonary infections and ventilatory failure. This dysfunction may reflect both neuromuscular weakness and impaired respiratory coordination. Early and regular respiratory assessment, together with preventive and rehabilitative strategies integrated into multidisciplinary care, may improve quality of life and potentially prolong survival in individuals with FA.

Ferroptosis is a novel pathogenic mechanism of FDXR-related disease via disruption of the NRF2 pathway

Campbell, T., Slone, J., Vu, J. et al. Ferroptosis is a novel pathogenic mechanism of FDXR-related disease via disruption of the NRF2 pathway. Cell Death Discov. 11, 563 (2025). doi:10.1038/s41420-025-02840-y  
Our results suggest that ferroptosis is a novel underlying mechanism of FDXR-related disease and that activation of NRF2 could be an immediate, viable treatment option for individuals with FDXR-related disease and other conditions involving aberrant iron metabolism.