Neurológia pre prax 1/2024

Creutzfeldt-Jakob disease phenocopy

Creutzfeldt-Jakob disease (CJD) may have very heterogeneous clinical manifestations. At the same time, there is increasingly more neuropathological evidence of a growing number of cases whose presentation meets the clinical diagnostic criteria for possible CJD, but it is, in fact, not this disease; these CJD phenocopies, or mimics, are the most frequent cause of diagnostic error. The differential diagnosis of CJD is broad, encompassing a number of potentially treatable conditions; they can include various autoimmune, infectious, cancerous, and toxic-metabolic CNS disorders. CJD phenocopies are most commonly encountered in the case of neurodegenerative diseases in which this atypical manifestation is associated, in the vast majority of cases, with the presence of mixed pathology. It is also for this reason that, in the future, we will certainly not do without reliable biomarkers capable of detecting relevant types of neurodegenerative processes in the brain.

Keywords: Creutzfeldt-Jakob disease, CJD phenocopy, mixed pathologies