Creutzfeldt-Jakob disease. Case from clinical practice

Abstract

Creutzfeldt-Jakob disease is a rare degenerative, prion disease of the brain. The causative agent of prion diseases is an infectious prion protein Prion Protein-scarpie (PrPSc), formed as a result of changes in the normal (non - infectious) cell protein Prion Protein-cellular (Rgrs). Accumulation of the pathological form of PrPSc leads to mass death of nerve cells. The main clinical manifestations of the disease include rapidly progressive cognitive impairment, myoclonus, dystonia, kinetically syndrome, spasticity, hyperreflexia, ataxia, visual disturbances, in the later stages of the disease akinetic mutism. About a third of the cases are epileptic seizures. The average life expectancy is about 5 months. More than 90% of patients die within 1 year due to aspiration pneumonia in the state of akinetic mutism. The complexity of diagnosis of CDR is associated with the rarity of the disease, clinical polymorphism and lack of awareness of doctors.