PMC10435367_01
Video electroencephalogram (EEG) showed normal findings.
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The interictal electroencephalogram (EEG) showed normal findings (Figure 1).
Magnetic resonance imaging (MRI) of the brain. Axial T2-weighted (A, B) and sagittal T2-weighted scan (C) revealed enlarged sulci in the cerebrum. Fluid-attenuated inversion recovery (FLAIR) sequences (D-F) revealed global brain atrophy, ventricular enlargement.
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Diffusion-weighted imaging (DWI) revealed no other abnormalities (Figure 2).
PET-CT images showed the left superior parietal lobe (A) and left middle temporal lobe (B) had mild to moderate decreased glucose metabolism, with reductions of 10 and 19%, respectively.
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PET-CT (18F-fluoro-2-deoxy-d-glucose, FDG) images showed that the left superior parietal lobe and left middle temporal lobe had mild to moderate decreased glucose metabolism, with reductions of 10 and 19%, respectively (Figure 3).
(A) Pedigree and PRNP sequences of the proband and his brother. Squares indicate men, circles indicate women, black symbols indicate affected individuals, gray indicates symptoms of presumed GSS, diagonal lines across symbols indicate deceased individuals, and the arrow indicates the proband.  for GSS, and  for symptoms of presumed GSS. (B) II-1: PRNP sequence of the patient reveals a heterozygous substitution from C to T at position 305 of PRNP cDNA, resulting in an amino acid change from proline to leucine at position 102 (P102L mutation). II-2: PRNP sequence of his little brother confirms the P102L mutation. The arrow indicates the mutation.
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The Sanger sequencing confirmed that his younger brother inherited the same mutations from his parents (Figure 4).