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Abstract

Creutzfeldt-Jakob Disease (CJD) is a fatal neurodegenerative disorder characterized by abnormal prion protein accumulation in neurons, leading to spongiform degeneration and diverse clinical symptoms. Its etiology remains incompletely understood, but evidence suggests misfolding of cellular prion protein (PrPC) into a pathogenic form (PrPSc) triggers disease propagation. CJD presents as sporadic, familial, iatrogenic, or variant forms, each with unique features. Sporadic cases predominate, while familial CJD involves PRNP gene mutations. Iatrogenic CJD stems from medical exposure, and variant CJD is linked to prion-contaminated meat consumption. Diagnosis relies on clinical evaluation, neuroimaging, and prion protein detection in cerebrospinal fluid or tissue, posing challenges. Treatment options are limited, prompting ongoing research for mechanistic insights and therapeutic advancements. This review provides a comprehensive overview of CJD, emphasizing recent progress in epidemiology, clinical presentation, diagnosis and therapeutic strategies.