Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).

•Five patients genetically confirmed heterozygous Pro102Leu mutation in the PRNP gene were described.•No notable abnormalities were found in NCS, needle EMG, or SSEP.•SPECT and PET revealed mosaic-like pattern of blood flow and glucose metabolism of the brain.•Blood flow of the anterior cerebellar lobes was lower than that of the posterior cerebellar lobes.