Creutzfeldt-Jakob disease pheno copy

Creutzfeldt-Jakob disease (CJD) may have very heterogeneous clinical manifestations. At the same time, there is increasingly more neuro pathological 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 pheno copies, 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 pheno copies are most commonly encountered in the case of neuro degenerative 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 bio markers capable of detecting relevant types of neuro degenerative processes in the brain. (author)