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Prion diseases are being monitored in The Netherlands since 29 years, the national registry is coordinated by Erasmus Medical Center. Since 2010, yearly on average 31 new patients are diagnosed with prion disease. There is a slight increase in incidence of prion diseases, probably due to better recognition and improved diagnostics. The most recent development in the diagnostic is the real-time quaking-induced conversion (RT-QuIC) test, which can detect prion proteins in cerebrospinal fluid with high sensitivity and specificity. The polymorphism of codon 129 of the prion gene (PRNP) determines the susceptibility for the different subtypes of Creutzfeldt-Jakob disease (CJD) and influences the clinical course. Awareness for atypical presentations of CJD and for CJD mimics is important, such as autoimmune encephalitis, which is often treatable and can resemble CJD.

Type

Journal article

Journal

Nederlands tijdschrift voor geneeskunde

Publication Date

09/2022

Volume

166

Addresses

Erasmus MC, Landelijke Registratie Prionziekten, afd. Epidemiologie, Rotterdam.

Keywords

Humans, Creutzfeldt-Jakob Syndrome, Prion Diseases, Prions, Netherlands, Prion Proteins