Abstract #3413

Reduced White Matter Integrity in Cognitively Normal HFE Mutation Carriers

Mark David Meadowcroft^1,2, Jian-Li Wang², Carson J Purnell¹, Paul J Eslinger³, Elizabeth B Neely¹, David J Gill³, Megha Vasavada², Qing X Yang², and James R Connor¹

¹Neurosurgery, The Pennsylvania State University - College of Medicine, Hershey, PA, United States, ²Radiology, The Pennsylvania State University - College of Medicine, Hershey, PA, United States, ³Neurology, The Pennsylvania State University - College of Medicine, Hershey, PA, United States

Mutations associated with iron dysregulation in the brain include the H63D and C282Y HFE missense mutations and transferrin C2 mutation, all of which have been associated with development of neurodegenerative diseases. Diffusion tensor metrics were further utilized to investigate the relationship between HFE/transferrin mutations and myelin integrity more precisely. The MRI data presented here demonstrate that cognitively normal H63D/C282Y HFE and transferrin C2 carriers have diffusivity changes in white matter compared to wild-type subjects. The observation that these alterations are located in late-myelinating frontal areas is hypothesized to be related to increased susceptibility within this region of HFE/Tf mutation carriers.

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