Nov 7, 2018

Longitudinal dentate nuclei iron concentration and atrophy in Friedreich ataxia: IMAGE-FRDA

BioRxiv : the Preprint Server for Biology
Phillip WardGary F. Egan

Abstract

Background: Friedreich ataxia is a recessively inherited, progressive neurological disease characterised by impaired mitochondrial iron metabolism. The dentate nuclei of the cerebellum are characteristic sites of neurodegeneration in the disease, but little is known of the longitudinal progression of pathology in these structures. Methods: Using in vivo magnetic resonance imaging, including quantitative susceptibility mapping, we investigated changes in iron concentration and volume in the dentate nuclei in individuals with Friedreich ataxia (n=20) and healthy controls (n=18) over a two-year period. Results: The longitudinal rate of iron concentration was significantly elevated bilaterally in participants with Friedreich ataxia relative to healthy controls. Atrophy rates did not differ significantly between groups. Change in iron concentration and atrophy both correlated with baseline disease severity or duration, indicating sensitivity of these measures to disease stage. Moreover, atrophy was maximal in individuals early in the disease course, while the rate of iron concentration increased with disease progression. Conclusions: Progressive dentate nuclei pathology is evident in vivo in Friedreich ataxia, and the rates of chang...Continue Reading

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Mentioned in this Paper

Biological Markers
In Vivo
Magnetic Resonance Imaging
Iron Metabolism Disorders
Neurons
FXN
Nerve Degeneration
Mitochondrial Iron Ion Transport
Participant
Friedreich Ataxia 1

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