This study presents an in-depth analysis of mitochondrial enzyme activities in Friedreich's ataxia (FA) patients, focusing on the Electron Transport Chain complexes I, II, and IV, the Krebs Cycle enzyme Citrate Synthase, and Coenzyme Q10 levels. It examines a cohort of 34 FA patients, comparing their mitochondrial enzyme activities and clinical parameters, including disease duration and cardiac markers, with those of 17 healthy controls. The findings reveal marked reductions in complexes II and, specifically, IV, highlighting mitochondrial impairment in FA. Additionally, elevated Neurofilament Light Chain levels and cardiomarkers were observed in FA patients. This research enhances our understanding of FA pathophysiology and suggests potential biomarkers for monitoring disease progression. The study underscores the need for further clinical trials to validate these findings, emphasizing the critical role of mitochondrial dysfunction in FA assessment and treatment.

2nd Faculty of Medicine Charles University Prague 5 Czech Republic

Centre of Hereditary Ataxias 2nd Faculty of Medicine An Official EFACTS Site a Member of European Reference Network for Rare Neurological Diseases Charles University Motol University Hospital Prague 5 Czech Republic

Department of Biology and Medical Genetics 2nd Faculty of Medicine Charles University Motol University Hospital Prague 5 Czech Republic

Department of Immunology 2nd Faculty of Medicine Charles University Motol University Hospital Prague 5 Czech Republic

Department of Neurology 2nd Faculty of Medicine Charles University Motol University Hospital Prague 5 Czech Republic

Department of Paediatric Neurology 2nd Faculty of Medicine Charles University Motol University Hospital 5 Uvalu 84 15006 Prague 5 Czech Republic

Department of Paediatrics 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Czech Republic

Department of Paediatrics and Inherited Metabolic Disorders 1st Medical Faculty Charles University and General University Hospital Prague Prague 2 Czech Republic

Prague Czech Republic

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