Neurológia pre prax 2/2012

Prion diseases

Prion diseases are caused by proteinous infectious particles, which are very resistant to usual sterilization procedures. The most current is Creutzfeldt-Jakob disease. Its diagnosis is based on clinical findings (rapidly progressive dementia, pyramidal or extrapyramidal involvement, myoclonus, visuo-spatial impairment and akinetic mutism) and positive 14–3–3 protein in CSF and/or periodic activity on EEG. MRI hyperintensities in FLAIR and diffusion weighted images in subcortical structures (putamen and caudate) and in some cortical areas, are currently being added to new WHO diagnostic criteria. Early recognition of a prion disease is crucial for the patient and his family, mainly in case of genetic forms of diseases. Since causal therapy is inexistent, many futile investigations including invasive procedures can be avoided and adequate palliative care can be introduced.

Keywords: dementia, prion, Creutzfeldt-Jakob disease, protein 14–3–3.