Creutzfeldt–Jakob disease in the Republic of Sakha (Yakutia)

Abstract

Creutzfeldt–Jakob disease (CJD) is a rare neurodegenerative disease caused by the accumulation of the pathological isoform of prion protein. The classic clinical presentation of CJD is characterized by rapidly progressive dementia, ataxia, myoclonus, and akinetic mutism at the terminal stage of the disease. Of the instrumental techniques, brain magnetic resonance imaging plays a leading role in clinical practice. The authors followed up 4 patients with probable CJD in the Republic of Sakha (Yakutia) in 2014 to 2019. All the patients had approximately the same age (50–60 years) at disease onset and onset with non-specific cerebral symptoms. However, the subsequent development of rapidly progressive dementia and other characteristic features might suggest CJD. The patients were found to have characteristic neuroimaging signs as hyperintensity of the caudate nuclei and pulvinars in the fluid-attenuated inversion recovery (FLAIR) and diffusion weighted imaging (DWI) modes to form the typical signal of hockey sticks, as well as hyperintensity of the gray matter in the DWI mode (the symptom of the «Venus necklace»). In 3 patients, the disease ended fatally within a year of its onset. The fourth patient with a disease duration of 6 months is being supervised at home. The authors reason that the diagnosis of CJD is now insufficient due to the similarity of its clinical symptoms at the onset with other disorders, including cerebrovascular and neurodegenerative diseases.

Keywords

• prion diseases
• creutzfeldt–jakob disease
• dementia
• myoclonus
• spongiform encephalopathies