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Five years prior to visiting our hospital, an 87-year-old woman had been diagnosed as having Alzheimer's disease, and cognitive symptoms slowly progressed over the course of 4 years. Cortical signal hyperintensities centered on the bilateral temporal and frontal regions on head diffusion-weighted imaging (DWI) and cerebrospinal levels of 14-3-3 protein were high. Prion protein gene testing showed a mutation in codon 180 from Val to Ile, and the genetic prion disease Creutzfeldt-Jakob disease with V180I mutation was diagnosed. In the course of slowly progressive dementia in the elderly, identification of genetic prion diseases may be facilitated by confirmation of changes in cortical signal hyperintensities on DWI over time.

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