Abstract #3731

Magnetic susceptibility of the dentate in a longitudinal study of Friedreich ataxia

Phillip G D Ward^1,2,3, Ian H Harding², Parnesh Raniga⁴, Tom G Close¹, Louise A Corben^2,5,6, Martin B Delatycki^5,6,7, Monique R Stagnitti², Elsdon Storey⁸, Nellie Georgiou-Karistianis², and Gary F Egan^1,2,3

¹Monash Biomedical Imaging, Monash University, Melbourne, Australia, ²Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia, ³Centre of Excellence for Integrative Brain Function, Australian Research Council, Melbourne, Australia, ⁴The Australian eHealth Research Centre, CSIRO Health and Biosecurity, Herston, Australia, ⁵Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia, ⁶Department of Paediatrics, University of Melbourne, Parkville, Australia, ⁷Victorian Clinical Genetics Service, Parkville, Australia, ⁸Department of Medicine, Monash University, Melbourne, Australia

We performed in-vivo measurements of the magnetic susceptibility in the dentate nucleus in individuals with Friedreich ataxia and healthy controls over a two-year longitudinal study using quantitative susceptibility mapping. The results show a significant susceptibility difference between individuals with Friedreich ataxia and control subjects, and a strong correlation with disease severity in the Friedreich ataxia cohort. These findings may lead to the development of a sensitive biomarker of disease severity and progression in Friedreich ataxia.

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