Journal article

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

Phillip Ward, Ian Harding, Thomas Close, Louise Corben, Martin Delatycki, Elsdon Storey, Nellie Georgiou-Karistianis, Gary Egan

Movement Disorders | Wiley | Published : 2018

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 i..

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