[Rare form of Creutzfeldt-Jakob disease].

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 on the clinical picture and pathology are briefly discussed.