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Abstract #3731

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

Phillip G D Ward1,2,3, Ian H Harding2, Parnesh Raniga4, Tom G Close1, Louise A Corben2,5,6, Martin B Delatycki5,6,7, Monique R Stagnitti2, Elsdon Storey8, Nellie Georgiou-Karistianis2, and Gary F Egan1,2,3

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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