Sporadic Creutzfeldt-Jakob disease

Sporadic Creutzfeldt-Jakob disease (sCJD), also known as classic or sporadic CJD, is the most common form of human prion disease (transmissible spongiform encephalopathy). It accounts for approximately 85–90% of all CJD cases and arises spontaneously without an identifiable genetic mutation or known exposure to infectious prions. The disease primarily affects the central nervous system, causing rapid and progressive neurodegeneration characterized by the accumulation of abnormally folded prion protein (PrPSc) in the brain, leading to widespread spongiform (sponge-like) changes in brain tissue. The hallmark clinical features of sCJD include rapidly progressive dementia, myoclonus (sudden involuntary muscle jerks), visual disturbances, cerebellar ataxia (difficulty with coordination and balance), and behavioral or psychiatric symptoms such as depression, anxiety, and personality changes. As the disease progresses, patients may develop akinetic mutism — a state of unresponsiveness with an inability to speak or move. The disease course is typically very rapid, with most patients progressing from initial symptoms to death within 4 to 6 months, though some may survive up to one to two years. The mean age of onset is approximately 60–65 years. Diagnosis is supported by characteristic findings on brain MRI (cortical ribboning and basal ganglia signal abnormalities), detection of 14-3-3 protein or real-time quaking-induced conversion (RT-QuIC) assay positivity in cerebrospinal fluid, and typical periodic sharp wave complexes on electroencephalography (EEG). Definitive diagnosis requires neuropathological examination of brain tissue. There is currently no cure or disease-modifying treatment for sCJD. Management is entirely supportive and palliative, focusing on symptom relief and comfort care. Research into potential therapies is ongoing but no effective intervention has yet been identified.

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