Harpreet Hyare1, Enrico De Vita2, Gerard R. Ridgway1, Marie-Claire Porter1, Peter Rudge1, Tarek A. Yousry2, Simon Mead1, John Collinge3, John Thornton2
1UCL - Institute of Neurology, London, United Kingdom; 2Lysholm Department of Neuroradiology, London, United Kingdom; 3UCL Institute of Neurology, London, United Kingdom
We present the application of voxel-based analysis of diffusion tensor imaging (DTI) and voxel-based morphometry in the largest cohort of presymptomatic mutation carriers of prion disease and symptomatic patients with a range of human prion diseases. We observed presymptomatic increased fractional anisotropy (FA) in functionally relevant white matter (WM) tracts whereas decreased FA was seen in symptomatic patients. Our findings could be due to propagation of the abnormal prion protein along white matter tracts before the other pathological hallmarks of prion disease that cause loss of WM integrity are evident.