Clinical characteristics of Creutzfeldt-Jakob disease in Guizhou Province from 2017 to 2021 / 中国基层医药

ABSTRACT

Objective:To analyze the incidence, epidemiology, and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in Guizhou Province from 2017 to 2021 and provide a scientific basis for monitoring of CJD in Guizhou Province.Methods:In this retrospective study, epidemiological and clinical information on suspected CJD cases reported by nine hospitals in Guizhou Province was collected and analyzed based on the laboratory test results of cerebrospinal fluid, blood, and skin samples from the patients.Results:From 2017 to 2021, a total of 47 patients with suspected CJD were reported in Guizhou Province, including 22 confirmed patients. Of these patients, 18 patients (18/22) were clinically diagnosed with sporadic CJD, 2 patients (2/22) were clinically suspected of having sCJD, and 2 patients (2/22) were confirmed to have genetic CJD. All patients primarily presented with rapid progressive dementia, and abnormal magnetic resonance imaging findings of the head are the main auxiliary examination results (16/20). The positive rate of 14-3-3 protein in cerebrospinal fluid was high (14/21). The blood sample PRNP gene testing revealed that 129 amino acids were M/M homozygous, while 219 amino acids were E/E homozygous. Except for T188K and E200K mutations detected by PRNP gene testing in 2 gCJD cases, no other site mutations were found, and 5 cases were positive for skin PrPSc. Patients' geographical distribution showed no obvious clustering. Patients have a wide range of occupations. The male-to-female ratio was 13:9, with a median age of 64 years. The majority of the patients were Han Chinese, and there was no special epidemiological history. Conclusion:The majority of the confirmed CJD patients in Guizhou Province from 2017 to 2021 are sporadic CJD patients, and their residence, occupation, gender ratio, age distribution, and other characteristics are consistent with the incidence patterns of sporadic CJD.