PMC9263511_01
Reaction curve of skin RT-QuIC of the patient. Reaction curves of skin RT-QuIC of the patient. Four replicate reactions of patient skin samples and four replicate reactions of the positive control (hamster scrapie 263K strain brain smear with a 10-7 dilution) were used in the RT-QuIC. Each line represents the reaction curve of positive control and patient sample, respectively. The means with standard deviations of those averages are shown as a function of RT-QuIC reaction time. The reaction curve did not show the peak of fluorescence in the patient sample (bottom), indicating a negative result of RT-QuIC. X-axis, hours post-reaction; Y-axis, fluorescence values.
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RT-QuIC tests of skin and CSF were also negative (Figure 2).
Brain MRI of the proband at 20 months after onset. (A-D) DWI sequences displayed restricted diffusion in the bilateral frontal and parietal cortex. (E-J) Bilateral basal ganglia hyperintensities, with slight bilateral pulvinar and dorsomedial thalamus hyperintensities on FLAIR (I) and DWI (J) sequences.
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Diffusion-weighted imaging (DWI) sequences displayed restricted diffusion in the bilateral frontal and parietal cortex (Figures 3A-D). DWI hyperintensities were revealed in the bilateral basal ganglia, bilateral pulvinar, and dorsomedial thalamus (Figures 3E-J).
FDG-PET images of the proband at 20 months after onset. FDG-PET showed hypometabolism in bilateral frontal, parietal, temporal lobes, bilateral caudate nucleus, putamen, and thalamus, with right lateralized basal ganglia hypometabolism.
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Fluorodeoxyglucose PET (FDG-PET) exhibited hypometabolism in the bilateral cerebral cortex and right basal ganglia (Figure 4).
Sequencing analyses in the PRNP gene from patient III-10. (A) c.341G>T (p.G114V) variant of the PRNP gene was detected. The mutation leads to the alteration of amino acid from glycine-to-valine. This alteration will lead to prion disease. (B) c.204_227 delTCATGGTGGTGGCTGGGGGCAGCC (1-OPRD) variant was detected. PRNP gene comprises two exons with the entire open reading frame (ORF) of 762 bp which is contained with exon 2. Nuclides between PRNP codon 51-91 into N-terminal are 5 groups of 24 base pair (bp) repeats, a deletion of the repeat TCATGGTGGTGGCTGGGGGCAGCC was found at the end of the PRNP gene (bottom). This mutation can be found in a minority of people and its pathogenicity has not yet been determined.
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G114V and 1-OPRD of the PrP in the patient was identified (Figure 5). Given that only a few patients with gCJD were reported to carry the G114V PRNP variant, we suspected that the mutation in the patient might be inherited from his parents, and we, thus, enrolled his immediate family members in this study for a genetic investigation.