Characteristics of patients with Creutzfeldt-Jakob disease in China, 2016

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

MethodsThe clinical and epidemiological information of CJD patients obtained from China CJD surveillance network was analyzed. Blood and cerebral spinal fluid (CSF) specimens were collected from these patients. Western blot assay was conducted for detecting 14-3-3 protein in CSF, and polymerase chain reaction 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.

ResultsIn 2016, a total of 449 CJD cases were detected in surveillance, including 159 probable CJD cases (35.41%), 19 possible sporadic CJD cases (4.23%), 15 genetic CJD cases (3.34%), 5 fatal familial insomnia (FFI) cases (1.11%), 3 cases of Gerstmann-Straussler-Scheinker (GSS) syndrome (0.67%) and 1 R148H gene carrier (0.22%). The cases occurred sporadically without clustering in time, place and population. The median age of probably CJD cases was 61 years (18-87 years old), and the male to female ratio of the cases was 1.13∶1. The median age of possible CJD cases was 59 years (39-77 years old), and the male to female ratio of the cases was 2.60∶1. Rapidly progressive dementia was the major initial symptom. The probable CJD cases with more positive results in electroencephalogram, magnetic resonance imaging and detection of 14-3-3 protein in CSF showed more typical clinical symptoms. Among 429 cases, 420 were M/M in allele 129, and 421 were E/E in allele 219.

ConclusionCJD occurred sporadically in China in 2016. The time, place and population distributions, gender ratio and average onset age of the CJD cases were consistent with the general characteristics of sporadic CJD cases in the world.