ABSTRACT

Creutzfeldt- Jakob Disease (CJD) is a neurodegenerative disease characterized by abnormally-shaped proteins. CJD is the most common type of prion diseases with incidence of 1/100000 per year. In this study, we aimed to review clinical, laboratory, electrophysiological and radiological findings and prognosis of 21 cases with the diagnosis of CJD.

A retrospective review of patient records in a single institution was performed to identify patients with sporadic CJD from 2010 to 2018. January 2017 diagnostic criteria were used for inclusion. In this study, 21 patients were included for analysis. Demographic features, symptoms, clinical findings of neurological examination, disease duration, laboratory findings, electrophysiological test results, findings of magnetic resonance imaging and prognosis were documented.

Twelve of the patients included in this study were male and nine were female. The mean age was 64.1 (49–79). All the patients had dementia and changes in personality at admission to the hospital. The duration of complaints was 5.4±4 months. Periodic sharp wave complexes were observed in the electroencephalogram at baseline or follow-up. Twenty patients had undergone lumbar puncture to identify 14.3.3 protein tests in cerebrospinal fluid. In six of twelve patients whose results were received, 14.3.3 protein level was positive, whereas four of them were negative and two were at borderline. Seven patients died of the disease during the follow-up in our hospital within 2.8 (1–6) months from the symptom onset.

In patients with rapidly progressive dementia, behavioral changes, hallucinations and myoclonus, CJD should be kept in mind for earlier diagnosis.

Keywords: Creutzfeldt-Jacob disease, dementia, neurodegenerative disease, prion