PMC6683949_01
Next generation sequencing data for a patient with PRNP Tyr225Cys, verified by standard sequencing.
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EEG showed diffuse slow continuous delta activity in the bilateral cerebral hemisphere with atypical triphasic waves of CJD (Figure S1, Table S1). In DWI and T2 brain magnetic resonance imaging, high signal intensity findings were observed throughout the cerebral cortex of bilateral basal ganglia, frontal lobe, parietal lobe, and parietal lobe, except cerebellum and occipital lobe (Figure 1A). The metabolisms in both basal ganglia, thalamus, and cerebellum were moderately reduced (Figure 1B).
(A) ExPASY analysis of PRNP Tyr225Cys compared with normal PrP protein. (B) Comparison of normal PrP proteins with Tyr225 and mutant Cys225 in terms of distance from Met166. (C) In silico prediction of PRNP Tyr225 and Cys225. Helix-3 in prion proteins may be more flexible in the case of Cys225 due to the smaller size of cysteine.
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Different disease phenotypes were present in his family (Figure 2).