Gerstmann-Sträussler-Scheinker disease: A case report

Figure 1 Proband’s pedigree. Squares indicate men, circles indicate women, black symbols indicate affected individuals, diagonal lines across symbols indicate deceased individuals, and the arrow indicates the proband.

Figure 2 Gene mapping of the proband. A heterozygous mutation site was found in the 2^nd exonic sequence of the PRNP gene (c.305; cytosine to thymine), resulting in a p.P102L amino acid change (valine to leucine).

Figure 3 Magnetic resonance imaging scans of the patient’s brain(A, B, D and E: Axial; C and F: Sagittal). A, B, and C: Brain magnetic resonance images were obtained 2.5 years after symptom onset. There are no obviously abnormal signals in the T₂-weighted images (A, B) or diffusion weighted image (DWI) (C); D, E and F: Brain magnetic resonance images were obtained 5.5 years after the onset of symptoms. T₂-weighted images (D, F) reveal high signal intensities in the basal ganglia, corona radiata, and paraventricular and semiovale centers; severe brain atrophy; and ventricular dilation. DWI imaging (E) reveals a diffuse symmetrical high signal in the bilateral cerebral cortex.