ObjectiveTo describe epidemiological and clinical characteristics of patients with Creutzfeldt-Jakob disease (CJD) patients in 12 provinces in China in 2017.

MethodsThe clinical and epidemiological information of CJD patients obtained from China CJD surveillance network were analyzed. Brain tissue, blood and/or cerebral spinal fluid (CSF) specimens were collected from these patients. Immunohistochemistry study was applied to detect cerebral pathogen PrP^Sc, Western blot assay was conducted for detecting 14-3-3 protein in CSF, and PCR and sequencing were performed for analyzing the polymorphism of 129 and 219 amino acid and mutation of PRNP gene.

ResultsA total of 1 definite CJD cases (0.20%), 224 probable CJD cases (44.44%) and 14 possible CJD cases (2.78%), 20 genetic CJD cases (3.97%), 10 fatal familial insomnia (FFI) cases (1.98%), and 3 GSS cases (0.60%) were identified. The cases occurred sporadically without clustering in time, place and population distributions. The median age of probable CJD patients was 62 years (33, 91 years old), the ratio of male to female was 1.06∶1. The median age of possible CJD patients was 65 years (40, 81 years old), the ratio of male to female was 1∶1. Rapidly progressive dementia was the major initial symptom. The probable CJD cases with more positive results in electroencephalogram (EEG), MRI and detection of 14-3-3 protein in CSF showed more typical clinical symptoms. Among 478 cases, 472 were M/M in allele 129, and 470 were E/E in allele 219. As of September 30, 2018, the analysis results of the survival time of probable sporadic CJD cases, genetic CJD cases, FFI cases and GSS cases in 2017 were consistent with the features of the reported clinical course of CJD worldwide.

ConclusionCJD occurred sporadically in China in 2017. The time, place and population distributions, gender ratio and the average onset age of the CJD cases were consistent with the general characteristics of CJD cases in the world.