Cortical propagation of Creutzfeldt-Jakob disease with codon 180 mutation.

Abstract A patient with Creutzfeldt–Jakob disease (CJD) with prion protein (PrP) gene codon 180 mutation (CJD 180) experienced cognitive decline over the 1.5-year period before her death. Serial magnetic resonance imaging (MRI) studies tracked stepwise propagation of cortical abnormal swelling and T2 elongations. On postmortem examination, the cortical areas affected by CJD for relatively short periods were associated with mild spongiform changes with the number of neurons being largely preserved. The residual neurons in these areas exhibited vacuole-like dilatation of their cell body. In contrast, the atrophic cortical areas affected by CJD for long periods exhibited predominant gemistocytic astrocytosis with severe neuronal loss. The present report depicts the unique cortical propagation of CJD 180 with corresponding radiological and pathological findings. Axonal transport through corticocortical connections might underlie the disease's propagation. MRI appeared to be useful for discriminating between different pathological states and tracking the progression of CJD 180.