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

## TL;DR

Two Chinese patients with a rare PRNP gene mutation showed symptoms similar to sporadic Creutzfeldt–Jacob disease, suggesting a genetic link to their condition.

## Contribution

Identification of a novel S97N mutation in the PRNP gene in two Chinese patients with sCJD-like symptoms.

## Key findings

- Two patients displayed sCJD-like clinical features and MRI abnormalities.
- A missense S97N mutation was found in the PRNP gene of both patients.
- RT-QuIC tests on cerebrospinal fluid confirmed prion disease in both cases.

## Abstract

Worldwide, 10–15% human prion disease are genetic and inherited, due to the special mutations or insertions in PRNP gene. Herein, we reported two Chinese patients with rapidly progressive dementia who were referred to the national Creutzfeldt–Jacob disease (CJD) surveillance as suspected CJD. Those two patients displayed sporadic CJD (sCJD)-like clinical phenotype, e.g. rapidly progressive dementia, visional and mental problems, sCJD-associated abnormalities in MRI. A missense mutation was identified in one PRNP allele of these two patients, resulting in a change from serine to asparagine at codon 97 (S97N). RT-QuIC of the cerebrospinal fluid samples from those two cases were positive. It indicates that they are very likely to be prion disease.