Creutzfeldt-Jakob syndrome (CJD) is a rare and fatal neurodegenerative disorder that affects the brain. It is a type of prion disease, which is characterized by the abnormal accumulation of misfolded proteins called prions, leading to the progressive and irreversible destruction of neural tissue.
CJD usually occurs spontaneously (sporadic CJD) without any known cause, but it can also be inherited (familial CJD) or acquired through exposure to infected tissues (acquired or variant CJD). The acquired form can result from contaminated surgical instruments, corneal transplants, or consumption of contaminated meat from animals with bovine spongiform encephalopathy (BSE) or "mad cow disease."
The symptoms of CJD typically include rapidly progressing dementia, along with neurological abnormalities such as muscle stiffness, involuntary movements, and coordination problems. As the disease advances, individuals may experience visual disturbances, memory loss, personality changes, and difficulties with speech or swallowing. The condition usually leads to severe disability and death within months to a few years.
Diagnosis of CJD often involves clinical evaluation, neurological exams, imaging techniques (such as magnetic resonance imaging or electroencephalogram), and detection of the abnormal prion protein in brain tissue. There is currently no cure for CJD, and treatment focuses on managing symptoms and providing supportive care.
Due to its rarity and devastating consequences, Creutzfeldt-Jakob syndrome remains a subject of intense research and study in the medical community.
