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Abstract #0386

Presymptomatic Altered White Matter Diffusivity in Inherited Prion Disease

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.

Keywords

acquisition affine altered although anisotropy assessment assist asymptomatic axial basal benefit bilateral blue body brain capsule carriers cerebellar cohort commonly comprising concern consistently correction cortex cross datasets decreased deposition detected developed diagnostic diffusion diffusivity discovery disease diseases earliest early evolution except findings fluid form forms frontal functionally ganglia gene generation growth hallmarks health hormone human hypothesis hypothesized individual inherited integrity internal intervention inversion investigate involved isotropic john kernel kingdom likely lobes loss major males maps mask masks matrix median model modulation monitoring motion mutation mutations neurology neuronal numerous observations offers optic optimal overlaid parietal part pathological pathology pathways patients peter plus porter posterior predominantly previous processing projects radial radiation random recruited reduced reflect relevant remain repetition reporting revealed segmentation segments significantly skeleton smith smoothing spatial stages statistical statistics structural structures subjects summing superior symptomatic targets template templates thought threshold timing tract transformations treatments unified unique variant vita volume warping white years