Prionziekten in Nederland

Hata Karamujić-Čomić; Annemieke J. M. Rozemuller; Marcel M. Verbeek; Afina W. Lemstra; M. Arfan Ikram; Cornelia M. van Duijn

Prionziekten in Nederland

Hata Karamujić-Čomić
, Annemieke J. M. Rozemuller
, Marcel M. Verbeek
, Afina W. Lemstra
, M. Arfan Ikram
, Cornelia M. van Duijn

Erasmus University Rotterdam
Hata Karamujić-Čomić
Utrecht University
Radboud University Nijmegen
Afd. Neurologie

Research output: Contribution to journal › Article › Professional

Abstract

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.

Original language	Dutch
Journal	Nederlands tijdschrift voor geneeskunde
Volume	166
Publication status	Published - 21 Sept 2022

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Cite this

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abstract = "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.",

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AU - Karamujić-Čomić, Hata

AU - Rozemuller, Annemieke J. M.

AU - Verbeek, Marcel M.

AU - Lemstra, Afina W.

AU - Ikram, M. Arfan

AU - van Duijn, Cornelia M.

PY - 2022/9/21

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AB - 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.

UR - https://www.scopus.com/pages/publications/85140932882

M3 - Article

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JO - Nederlands tijdschrift voor geneeskunde

JF - Nederlands tijdschrift voor geneeskunde

ER -

Prionziekten in Nederland

Abstract

UN SDGs

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