Introduction. Creutzfeldt-Jacob disease is a rare fatal neurodegenerative disease, the etiopathogenesis of which centers around prions. It is characterized by unrelentingly progressive course and specific findings on auxiliary examinations. The goal of the presented paper was to evaluate the occurrence of individual clinical signs and specific electroencephalographic (EEG) findings in a group of patients with the genetic form of CJD. Material and methods:We have retrospectively evaluated the occurrence of neurological and psychological symptoms and assessed EEG recordings in a group of 23 patients (11 men and 12 women) with definitive (21) or probable (2) CJD. The average age at diagnosis was 55.7 years. Results:Out of this group, 17 patients (all of those in whomthis examination was performed) had a confirmed E200K mutation. The median duration of the disease was 3.8 months. The initial symptoms where most often nonspecific (insomnia, weight loss and similar) and sensory impairment. Dementia syndrome was present in 100 % of cases, pyramidal signs and myoclonus in 87%, extrapyramidal signs and akinetic mutism or apallic syndrome in 78 % and cerebellar signs in 57% of cases. EEG examination (performed for the first time within a median of 2.0 months from diagnosis) was generally positive in 91 % of patients, while in up to 61 % even the first EEG recording was already positive. Discussion and conclusion: A combination of neurological and psychological symptoms in an early stage of CJD and their unrelenting progression together with early indication of EEG examination can assist in accelerating the diagnostic process.

        Key words: Creutzfeldt-Jakob disease, initial symptoms, dementia syndrome, pyramidal signs, myoclonus, EEG