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Sjælden form for Creutzfeldt-Jakobs sygdom

Saad Al-Hamdany & Ida Elisabeth Holm Århus Universitetshospital, Aalborg Sygehus, Neurologisk Afdeling og Patologisk Institut
Ugeskr Læger 2010;172(40):2772-2773
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Summary Rare form of Creutzfeldt-Jakob disease Ugeskr Læger 2010;172(40):2772-2773 Creutzfeldt-Jakob disease (CJD) is the most common type of prion disease. A considerable variation in disease phenotype is seen, primarily influenced by a naturally occurring polymor-phism in the prion protein gene. We present a case of sporadic CJD of atactic type. Molecular genetic analysis showed a VV polymorfism at codon 129 in the prion protein gene. The various polymorfisms at codon 129 and their influence on the clinical picture and pathology are briefly discussed.
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