A 55-year-old man was first evaluated after a one-year evolution of rapidly progressive dementia. The neurological examination showed MMSE 23/30 with impairment of multiple cognitive domains (memory, executive function, praxis and visuospatial), frontal release signs and pyramidalism. EEG revealed mild generalised slowing without periodic discharges. CSF analysis was negative for 14-3-3 protein. MRI showed hyperintense signals involving the dorsofrontal and parieto-occipital cortices and both medial thalamus which were particularly evident on DWI sequence. The motor and sensory primary cortices remained unaffected. Genotyping of the prion protein gen identified heterozygosis methionine-valine at codon 129 and no mutations. The patient developed progressive worsening in the behavioural, cognitive and motor domains that left him in a state of akinetic mutism for a few months before death, which occurred four years after the clinical onset. A pathological study demonstrated spongiform changes, gliosis, neuronal loss and Kuru-type plaques. Immunohistochemistry exhibited a synaptic pattern with focal plaques. A western Blot analysis was not possible, but an atypical long-duration MV2 sporadic Creutzfeldt-Jakob was the most probable diagnosis.
Emilio Franco-Macías, Liliana Villareal-Perez, Aida Suarez-Gonzalez, Irene Perez-Ortega, Florinda Roldan-Lora and Eloy Rivas-Infante
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