Article
[Rare form of Creutzfeldt-Jakob disease].
Ugeskrift for laeger - 4 Oct 2010
Al-Hamdany Saad, Holm Ida Elisabeth
Abstract excerpt
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 polymorphism in the prion protein gene. We present a case of sporadic CJD of atactic type. Molecular genetic analysis showed a VV polymorphism at codon 129 in the prion protein gene. The various polymorphisms at codon 129 and their influence...
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