Diagnoses of Creutzfeldt-Jakob Disease in Chile between 2007 and 2024

Abstract

Introduction: Creutzfeldt-Jakob disease is a rare prion-related disorder characterized by a rapidly progressive neurodegenerative condition. In up to 90% of diagnosed cases, it results in a fatal outcome within the first year. Genetic studies in Chile have identified the presence of a mutation in codon 200 of the PRNP gene on chromosome 20, associated with increased hereditary susceptibility. Objective: To describe the epidemiology of Creutzfeldt-Jakob Disease in Chile between 2007 and 2024. Methodology: A longitudinal observational study with a descriptive ecological design. Data were obtained from EPI-MINSAL and the National Institute of Statistics (INE). The variables studied included number of cases per year and region, sex, and age groups. Results: A total of 859 diagnoses of Creutzfeldt-Jakob Disease were recorded in Chile. The year with the highest number of diagnoses was 2023 (n = 78), while the lowest number was recorded in 2016 (n = 27). The most susceptible age groups were individuals aged 50–59 and 60–69, in both sexes. Discussion: International studies have identified a higher prevalence of this disease in women, which is consistent with the findings of this study. However, females show better survival statistics. Conclusion: Women are more frequently diagnosed with Creutzfeldt-Jakob Disease in Chile, accounting for 52.6% of diagnoses between 2007 and 2024. Men represented 47.3%. Strengthening early diagnosis and enhancing epidemiological and genetic surveillance could improve prevention and management of this neurodegenerative disease. Although its prevalence is very low, its high mortality rate makes it a significant public health challenge.