An autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease presenting with characteristic clinical, radiological, and neuropathological findings

In Japan, because MV2-type sporadic Creutzfeldt-Jakob disease (CJD) is rare, little is known about its clinical and neuropathological characteristics. An autopsy case of MV2K-type sporadic CJD is presented, and the characteristic clinical, radiological, and neuropathological findings are discussed. The patient was a Japanese woman who died at the age of 72 years. Her initial symptom was rapidly progressive dementia. She then developed truncal ataxia and delusions. Approximately nine months after onset, she exhibited akinetic mutism. The total clinical course was 11 months. Magnetic resonance imaging revealed hyperintensity areas in the basal ganglia, thalamus, and hippocampus on diffusion-weighted images. In the cerebral cortex, this finding was slight and inconspicuous. Electroencephalography revealed no periodic sharp wave complexes. Prion protein (PrP) gene analysis revealed no mutations, and polymorphic codon 129 exhibited methionine and valine heterozygosity. In the cerebrospinal fluid, levels of both total tau and 14-3-3 proteins were elevated. Grossly, the brain weighed 1050 g before fixation and exhibited diffuse cortical atrophy. On histopathological examination, extensive fine vacuole-type spongiform degeneration was noted in the cerebral cortex. Numerous kuru plaques were observed in the cerebellum. PrP immunohistochemistry revealed extensive diffuse synaptic- and perineuronal-type PrP deposits in the cerebral cortex. Kuru plaques were strongly immunoreactive for PrP. Western blot analysis of brain tissue samples revealed mixed type 2 and intermediate type. Systematic and comprehensive investigations of both clinical and neuropathological aspects are required for accurate diagnosis.