Objective  To describe epidemiological and clinical characteristics of the patients of Creutzfeldt-Jakob disease (CJD) in 12 provinces (municipality and autonomous region) in China.

  Methods  The clinical and epidemiological information of CJD patients obtained from China CJD surveillance network were analyzed. Blood and cerebral spinal fluid (CSF) specimens were collected from these patients. Western blot assay was conducted for the detection of 14-3-3 protein in CSF, and polymerase chain reaction (PCR) and sequencing were performed by using DNA extracted from whole blood genome for the analyses of polymorphism of 129 and 219 amino acid and mutation of PRNP gene.

  Results  In 2018, a total of 537 CJD cases were detected in surveillance, including 2 definite CJD cases (0.37%), 212 probable CJD cases (39.48%), 13 possible CJD cases (2.42%), 16 genetic CJD cases (2.98%), 5 fatal familial insomnia (FFI) cases (0.93%) and 2 cases of Gerstmann-Straussler-Scheinker (GSS) syndrome (0.37%). The cases occurred sporadically without clustering in time, place and population. The median age of definite and probable CJD cases was 64 years (34–87 years), and the male to female ratio of the cases was 1.19∶1. The median age of possible CJD cases was 63 years (39–76 years), and the male to female ratio of the cases was 0.86∶1. Rapid progressive dementia was the major initial symptom. Among 517 cases with blood PRNP gene detection results, 507 were M/M in allele 129, and 510 were E/E in allele 219.

  Conclusion  CJD occurred sporadically in China in 2018. The time, living area and occupation distributions, gender ratio and average onset age of the CJD cases were consistent with the general characteristics of sporadic CJD cases in the world.