Abstract #0401

HFE Mutations Alter White Matter Diffusion and Relaxation Parametrics in Alzheimer’s Disease

Mark D Meadowcroft^1,2, Jianli D. Wang², Carson J Purnell¹, Paul J Eslinger³, James R Connor¹, and Qing X Yang²

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

This work demonstrates that HFE mutations in cognitively normal compared to wild-type subjects lead to differences in diffusion and relaxation parametrics, such that HFE mutation carrier parametrics converge towards AD subjects. Furthermore, HFE mutations appeared to be preservative against white matter integrity loss in AD patients. Iron-loading HFE mutations appear to preserve relaxation and diffusion neuroimaging biomarkers in AD patients, but adversely affect cognitively normal subjects.

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