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Teaching NeuroImages: Cerebral cortex swelling in Creutzfeldt-Jakob disease with V180I mutation

A 74-year-old woman developed amnesia that rapidly progressed over 6 months. She exhibited no apparent neurologic abnormalities, except for cognitive decline. Mini-Mental State Examination score was 20/30, mainly involving orientation and recent memory. EEG revealed no periodic synchronous discharge. CSF analysis was negative for 14-3-3 protein. Brain MRI revealed abnormal signals in the cerebral cortices (cortical ribboning) with swelling (figure). Analysis of the prion protein gene (PRNP) revealed V180I mutation. Premortem diagnosis of Creutzfeldt-Jakob disease with V180I mutation, especially in early stage, merely based on clinical features is difficult.1,2 MRI revealed cortical swelling that is associated with V180I mutation and prompts genetic testing.1,2

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