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Abstract

A rare and deadly neurodegenerative disease, Creutzfeldt-Jakob Disease (CJD) is caused by misfolded prion proteins (PrP^Sc), which can cause astrocytic gliosis, spongiform abnormalities, and neuronal destruction. A comprehensive investigation of the pathogenic processes underlying CJD, such as prion proliferation and neuronal dysfunction, is given in this review. The focus is on the diagnostic function of biomarkers in the blood, imaging, genetic, and cerebrospinal fluid (CSF) domains. Important biomarkers like total tau protein, 14-3-3 protein, and the highly specific RT-QuIC test are covered in detail, along with neurofilament light chain (NfL), a blood-based marker that shows promise. Additionally, analysed are genetic indicators such as PRNP mutations and imaging abnormalities, especially MRI hyper intensities. The significance of biomarker-based developments for bettering early diagnosis and comprehending the clinical course of CJD is emphasized in this study.

Keywords

Creutzfeldt-Jakob disease(CJD), Iatrogenic(ID), prion protein scrapie(PrP^Sc), Neuronal dysfunction, Familial CJD, prion protein gene (PRNP), prions, periodic sharp wave complexes(Pswc), Diffusion-weighted -imaging(DWI), variant-Creutzfeldt Jakob disease(vCJD),14-3-3 protein, Tau protein.

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