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Case Report

Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene

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Pages 141-144 | Received 08 May 2023, Accepted 24 Oct 2023, Published online: 14 Nov 2023

Figures & data

Figure 1. Graphic presentation of the sequencing analysis of PRNP. DNA sequences from the two patients at codon 97, codon 129 and codon 219. Heterozygous transition at codon 97 from ser (S) to asp (N) in one PRNP allele (left graph), homozygous methionine (M) at codon 129 (middle graph) and homozygous glutamic acid (E) at codon 219 (right graph). Arrow indicates the heterozygote of S97N.

Figure 1. Graphic presentation of the sequencing analysis of PRNP. DNA sequences from the two patients at codon 97, codon 129 and codon 219. Heterozygous transition at codon 97 from ser (S) to asp (N) in one PRNP allele (left graph), homozygous methionine (M) at codon 129 (middle graph) and homozygous glutamic acid (E) at codon 219 (right graph). Arrow indicates the heterozygote of S97N.

Figure 2. The spectra of CSF RT-QuIC assays. A 15 µl CSF sample was added to 85 µl of reaction mixture containing 1 mg/mL rHarPrP 90–231 into the each well of a 96 well plate. The assays were conducted in FLUOstar OMEGA plate reader (BMG Labtech, Germany). Each sample consists of four replicates (wells). Y-axis represents relative fluorescent unit (rfu, ThT value). X-axis represents the time (h) post-reaction.

Figure 2. The spectra of CSF RT-QuIC assays. A 15 µl CSF sample was added to 85 µl of reaction mixture containing 1 mg/mL rHarPrP 90–231 into the each well of a 96 well plate. The assays were conducted in FLUOstar OMEGA plate reader (BMG Labtech, Germany). Each sample consists of four replicates (wells). Y-axis represents relative fluorescent unit (rfu, ThT value). X-axis represents the time (h) post-reaction.