Friedreich ataxia (FRDA) results from reduced expression of the protein, frataxin, which is involved in cellular iron homeostasis and metabolism, antioxidant protection, and iron-sulfur cluster biogenesis. Disruption of one or more of these processes putatively underpins the pathophysiology of FRDA..
In the brain, accumulation or redistribution of iron within, and atrophy of, the cerebellar dentate nuclei have been reported. The dentate nuclei are iron-laden structures pivotal to movement coordination. However, other structures also have high iron content, express high levels of frataxin, and play key roles in motor regulation. Furthermore, the dentate nuclei directly innervate some structures in the brain and indirectly project to others. This suggests that iron-related pathology and/or degeneration within these other parts of the brain may also feature in FRDA. To test this hypothesis, they analyzed tissue volume and iron concentration within various structures of the brain in individuals with FRDA and healthy controls using magnetic resonance imaging (MRI).
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