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Creutzfeldt-Jacob disease


Authors: Z. Gdovinová
Published in the journal: Cesk Slov Neurol N 2013; 76/109(2): 138-154
Category: Minimonografie

Summary

Creutzfeldt-Jacob disease (CJD) is a prion disease. Prion diseases are fatal neurodegenerative conditions affecting humans and a wide variety of animals. In prion diseases, normal, cellular protein (PrPC) is converted into insoluble, protease-resistant scrapie prion protein (PrPSC). PrP is encoded by the prion protein gene (PRNP) localised on the short arm of chromosome 20. There are several forms of CJD, sporadic CJD (sCJD), seen in about 85% of patients, being the most common one. Some cases are genetic (gCJD) that occur as a consequence of va­rious mutations (including point mutations, insertions and deletions); when the mutation is present in more than two members of a family, the disease is called familial (fCJD). Remaining two forms, i.e. iatrogenic CJD (iCJD) and variant CJD (vCJD), are acquired. iCJD (now called accidentally transmitted) is acquired through contaminated transplants and instruments. vCJD is a novel form of human prion disease first reported in the United Kingdom in 1996. It is likely that bovine prions from „mad cows“, affected with bovine spongiform encefalopathy (BSE), were passed to humans through consumption of beef products from affected animals.

Key words:
Creutzfeldt-Jacob disease – prion protein – 14-3-3 protein – electroencephalography – magnetic resonance imaging – dementia


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Dětská neurologie Neurochirurgie Neurologie

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Česká a slovenská neurologie a neurochirurgie

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