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

Translated title of the contribution: Prion diseases in The Netherlands: twenty-nine years of surveillance

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

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.

Translated title of the contribution	Prion diseases in The Netherlands: twenty-nine years of surveillance
Original language	Dutch
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	166
Publication status	Published - 21 Sept 2022

Cite this

@article{a48637ac77ad475cb1376b75d24e2aef,

title = "Prionziekten in Nederland",

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.",

author = "Hata Karamuji{\'c}-{\v C}omi{\'c} and Rozemuller, {Annemieke J. M.} and Verbeek, {Marcel M.} and Lemstra, {Afina W.} and Ikram, {M. Arfan} and {van Duijn}, {Cornelia M.}",

year = "2022",

month = sep,

day = "21",

language = "Dutch",

volume = "166",

journal = "Nederlands Tijdschrift voor Geneeskunde",

issn = "0028-2162",

publisher = "Vereniging Nederlands Tijdschrift voor Geneeskunde",

}

TY - JOUR

T1 - Prionziekten in Nederland

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

Y1 - 2022/9/21

N2 - 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.

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 - http://www.scopus.com/inward/record.url?scp=85140932882&partnerID=8YFLogxK

M3 - Article

C2 - 36300478

SN - 0028-2162

VL - 166

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

ER -

Prionziekten in Nederland

Abstract

Other files and links

Cite this