Authors: Adrianna Carrasco, Hamid Okhravi
Published: 2020-12-07
DOI: 10.1002/alz.046172
Source: Full article
AbstractBackgroundCreutzfeldt‐Jakob disease (CJD) is rare form of rapidly progressive dementia due to the presence of abhorrent prion protein and affects 1‐1.5 cases per million per year.1 An estimated 85% of these cases are sporadic, and the remaining 5‐15% develop CJD from inherited mutations of the prion gene.2 Sporadic CJD (sCJD) is further subdivided into six subtypes based on genetic polymorphisms, with the VV1 subtype occurring at a rate of 1 case per one‐hundredth million population per year. 3 These subtypes have been shown to correlate with age of onset, clinical course, disease features and duration4,5. Clinical characteristics of the VV1 subtype has been reported to show, early age of onset (39 years), disease duration of 15 months, elevated 14‐3‐3 and total tau in the CSF, absent PSWCs on electroencephalography (EEG), and magnetic resonance imaging (MRI) hyperintensities in the cerebral cortex with usual negative signal in the basal ganglia or thalamus.6,7,