A Unique Case of Genetic Creutzfeldt-Jakob Disease (E200K Mutation) with CSF-Restricted Anti Myelin Oligodendrocyte Glycoprotein Antibody

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disorder that can share clinicoradiologic features with autoimmune cortical encephalitis (CE); however, the pathological significance of myelin oligodendrocyte glycoprotein (MOG)-IgG, which is one of the causes of CE, has not yet been explored in the context of CJD.

We herein present the case of a man in his mid-70s with a family history of CJD and rapidly progressive cognitive decline. Genetic testing confirmed the E200K mutation in PRNP. CSF analysis revealed CSF-restricted MOG-IgG that became undetectable after corticosteroid therapy without clinical improvement. This case highlights the need for cautious interpretation of the CSF-restricted MOG-IgG in CJD.