A Prion Disease-Possible Gerstmann-Straussler-Scheinker Disease

A 50-year-old patient with a 6-month history of progressive cognitive and motor disability is presented. There were no myoclonic jerks on examination and no periodic sharp waves by electroencephalography. Imaging showed high signal on T2-weighted scans in the basal ganglia and posterior limbs of the internal capsules, with no restricted diffusion and parenchymal volume loss. A brain biopsy was performed. Western blot analysis revealed a protease-resistant prion protein fragment (PrP7-8), the molecular hallmark of Gerstmann-Straussler-Scheinker disease.