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čakš Jager, Nuška; Popović, Mara; Blaško Markič, Mateja; Kraigher, Alenka
Zdravstveno varstvo, 12/2018, Volume: 57, Issue: 4Journal Article
The objective was to present the results of surveillance of prion diseases in Slovenia that was established in 1996 and then to assess the interdisciplinary approach according to the algorithm of case management and reporting data to the National Register at the National Institute of Public Health. A descriptive study of Creutzfeldt-Jakob disease (CJD) recorded in the period from 1996 to 2017 was carried out. A total of 123 cases of prion disease were notified between 1996 and 2017. Out of these, 68 were recorded and confirmed by autopsy as sporadic CJD with an average incidence rate of 1,5 cases per million population per year. In one case a gene analysis showed mutation E200K in prion protein gene, PRNP. Two cases of the Gerstman-Sträussler Scheinker syndrome and one clinical case of fatal insomnia with new PRNP mutation, N181S, were notified. Diagnostic value of protein 14-3-3 analysis in the liquor reached 82% sensitivity and 71% specificity. 25 cases of notified clinically possible/probable CJD were disproved after autopsy. In eleven notified possible CJD cases the autopsy had not been performed. Variant CJD has not yet been proven in Slovenia. Incidence rates were comparable with other European countries. Completeness of reporting and proper management of CJD cases according to the algorithm of reporting, management and case confirmation would need some improvement. A well-functioning surveillance system, including timely notifications, would enable an appropriate epidemiological investigation and an effective response to public health risks, thus the awareness of prion diseases should not decline.
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