Differential diagnosis with other rapid progressive dementias in human prion diseases

Abstract

Prion diseases are unique in medicine as in humans they occur in sporadic, genetic, and acquired forms. The most common human prion disease is sporadic Creutzfeldt-Jakob disease (CJD), which commonly presents as a rapidly progressive dementia (RPD) with behavioral, cerebellar, extrapyramidal, and some pyramidal features, with the median survival from symptom onset to death of just a few months. Because human prion diseases, as well as other RPDs, are relatively rare, they can be difficult to diagnose, as most clinicians have seen few, if any, cases. Not only can prion diseases mimic many other conditions that present as RPD, but some of those conditions can present similarly to prion disease. In this article, the authors discuss the different etiologic categories of conditions that often present as RPD and also present RPDs that had been misdiagnosed clinically as CJD. Etiologic categories of conditions are presented in order of the mnemonic used for remembering the various categories of RPDs: VITAMINS-D, for vascular, infectious, toxic-metabolic, autoimmune, mitochondrial/metastases, iatrogenic, neurodegenerative, system/seizures/sarcoid, and demyelinating. When relevant, clinical, imaging, or other features of an RPD that overlap with those of CJD are presented.

Keywords: CJD; Creutzfeldt–Jakob; Jakob–Creutzfeldt; cortical ribboning; diffusion-weighted imaging; prion; rapidly progressive dementia.