Neurológia pre prax 1/2024

Trends in the occurrence of Creutzfeldt‑Jakob disease in Slovakia in the years 2007–2022

Creutzfeldt-Jakob disease (CJD) is rapidly progressive, incurable neurodegenerative disorder which belongs to the group of prion diseases. The presented study focuses on the occurrence of each form of CJD in Slovakia and analyses its trends during the years 2007–2022. A total of 6685 samples (3127 blood samples, 3155 cerebrospinal fluid samples, 403 samples of frozen and fixed brain tissue) were examined in the given period. The final diagnosis of CJD was confirmed in 287 cases. The genetic form of the disease with E200K mutation on the prion gene was encountered in 74 % of all cases, 26 % was the sporadic form of CJD. Incidence of the disease has an increasing trend in both forms of CJD, compared to earlier periods. The increase in incidence is statistically significant (p>0.001). This study also documents the increase in age of diseased persons, the average age at onset sCJD was 65.3 years, in the case of gCJD the age increase is statistically significant (61.9 years, p=0,003). Analysis of the occurrence of the disease from geographical point of view shows constant increased occurrence of gCJD in Žilina and Banská Bystrica regions. Sporadic CJD has increased occurrence in Bratislava, Trenčín and Banská Bystrica regions.

Keywords: Prion diseases, Creutzfeldt‑Jakob disease, E200K mutation, M129V polymorphism, CJD incidence