ABSTRACT
Objective To describe the epidemiological and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in China. Methods Clinical and epidemical data on patients from China CJD surveillance network was analyzed. Blood and cerebral spinal fluid (CSF) specimens from these patients were collected. Western blot assay was used to detect 14-3-3 protein in CSF, PCR and sequencing assay were used for analyzing the polymorphism of 129 amino acid and mutation of PRNP gene. Results A total number of 31 probable and 11 possible sporadic CJD patients were identified. Additionally, one patient with Gerstmann-Straussler-Scheinker syndrome (GSS) and 2 familial CJD cases were identified. No geographic- or occupational-related events were observed among these cases. The mean age of onset on the probable or possible CJD patients were 56.7 and 57.4 years old, with sex ratios of the probable CJD patients as 8:9 and the possible one as 5:6 respectively. Rapid progressive dementia was the main foremost symptom, presenting in 33.3% of the CJD patients. Probable CJD patients showed more clinical manifestations than those possible ones. Conclusion Geography distribution, occupation, ratio of gender and the mean onset age of the CJD eases in 2008 were consistent with the characteristics of the sporadic CJD.