Serial diffusion-weighted, voxel-based morphometry MRI, and 123I-IMP SPECT in V180I genetic Creutzfeldt–Jakob disease before symptom onset

An 84-year-old genetic Creutzfeldt–Jakob disease with V180I mutation in the prion protein gene (V180I gCJD) woman presented with rapid progressive dementia. Six months before symptom onset, diffusion-weighted imaging (DWI) and T2-weighted imaging (T2WI) were normal; however, voxel-based morphometry (VBM) evidenced volume loss of the right temporal pole and hippocampus. Two months after symptom onset, brain imaging revealed cortical DWI hyperintensities with swelling on T2WI, and hypoperfusion on ¹²³I-IMP single photon emission computed tomography in the right dominant bilateral temporal lobes, and right front-parietal lobes, striatum, and parahippocampus. The VBM loss had spread across the right temporal lobe and hippocampus. Considering spongiform changes and neuron loss, these imagings were useful for understanding the neuropathological mechanisms of V180I gCJD.