Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.

ABSTRACT:

Objective

Two different mutations at codon 196, namely E196A and E196K, have been reported to be related to genetic Creutzfeldt-Jakob disease (CJD). We aimed to comparatively analyse the features of Chinese patients with these two mutations from the CJD surveillance system in China.

Design and setting

Comparative analysis of patients identified via the Chinese National CJD Surveillance System during the period 2006-2020.

Participants

16 Chinese patients with genetic CJD with E196A mutation and 5 with E196K mutation.

Methods

Neurological examination, EEG and MRI, western blot, gene sequence, and RT-QuIC.

Results

The age of onset of E196K genetic CJD cases (median of 61 years) was older than the E196A cases (median of 67 years). Generally, these two subtyp

SUBMITTER: Shi Q 

PROVIDER: S-EPMC8593757 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature