Creutzfeldt–Jakob disease: literature review and description of three clinical cases

Abstract

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease of prion nature, characterized by a rapid progression of neurological symptoms leads a state of akinetic mutism in the terminal stage of the process. CJD disease was used in scientific literature since 1922, but even today, a century later, its pathogenesis remains an unresolved puzzle. Although research prion abnormalities have advanced considerably, the criteria for making a definitive diagnosis are now based on morphological or immunohistochemical confirmation. A combination of indirect diagnostic signs forms the lifetime diagnosis. CJD progresses steadily once the first neurological symptoms are present, with death usually occurring within a year of onset. CJD can occur at any age, but its onset is more common in the seventh decade. This paper presents three clinical cases that debuted at the age of 59, 70 and 69 years. In the first and second cases, the disease began with a mnemonic disturbance, in the third with a speech impairment, and the cognitive impairment was one of the last to occur. Two of the three clinical cases had a lethal outcome with a disease course of up to one year, but none was included in the statistics on the incidence of CJD in Russia, due to a lack of awareness among specialists, as well as a lack of necessary resources and means. In conclusion, a brief overview of diagnostic and treatment approaches based on current scientific research is presented.