A 66-year-old woman presented with slowly progressive cognitive decline. MRI showed bi-frontotemporal atrophy, but the 14.3.3 protein was not present in cerebrospinal fluid. Electroencephalogram was irrelevant. Interview with relatives led doctors to search for a genetic cause and confirmed the diagnosis of Gerstmann-Sträussler-Scheinker syndrome.
Keywords: Cognitive decline; Gerstmann–Sträussler–Scheinker syndrome; prion protein.