Prionziekten in Nederland

• 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.

Conflict of interest and financial support: ICMJE forms provided by the authors are available online along with the full text of this article.