Author(s): Saima Zafar, Neelam Younas and Inga Zerr
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare but fatal type of spongiform encephalopathy with unidentified origin. The conjoining methionine-valine polymorphism of PRNP gene at codon 129 and two types of prion protein (PrPsc types 1 and 2) described the six different molecular subtypes (MM1, MM2, MV1, MV2, VV1 and VV2) of sCJD. Presumptive subtype specific diagnosis showed differential clinical manifestations and levels of CSF 14-3-3 protein. Even with the above mentioned differential diagnostic guidelines, pre-mortem subtype specific diagnosis of sCJD can be unreliable with high rates of misdiagnosis. The need for more reliable biomarkers for improving the diagnosis as well as understanding the pathogenesis of this mysterious ailment is amplified. This review compiles the levels of CSF proteins, i.e., PrPC, PrPSC 14-3-3, tau, phosphorylated tau, S100B, neuron-specific enolase (NSE) alpha-synuclein and beta-amyloid to differential diagnosis subtype specific sCJD cases. The detection of pre-mortem distinction targets might be useful diagnostic tool for sCJD in subtype specific manner and might lead towards differential treatment approaches.
