vCJD

Variant Creutzfeldt-Jakob disease (vCJD) is a rare, acquired prion disease in humans caused by the misfolding and accumulation of prion proteins, typically following exposure to bovine spongiform encephalopathy (BSE) prions through contaminated beef products. It was first identified in 1996 in the United Kingdom, where most cases occurred during the late 1990s; since then, cases have markedly declined due to stricter cattle controls and surveillance.

vCJD tends to affect younger individuals compared with sporadic CJD, with onset commonly in the late 20s to early 30s, though ages range broadly. The clinical course is rapidly progressive and fatal. Early symptoms are often psychiatric or behavioral, such as depression, anxiety, or social withdrawal, sometimes followed by sensory disturbances like painful dysesthesias. Neurological signs, including ataxia, impaired coordination, dysphagia, and rapidly worsening dementia, develop later. Myoclonus is less prominent early than in sporadic CJD but can appear as the disease advances.

Diagnosis combines clinical presentation with imaging and laboratory tests. MRI may show the pulvinar sign, a high signal in the thalamus, and diffusion-weighted imaging can reveal cortical or thalamic abnormalities. Cerebrospinal fluid testing for 14-3-3 protein can support the diagnosis but is not specific. A highly sensitive and specific diagnostic approach uses RT-QuIC testing on CSF or nasal brushings. Definitive diagnosis historically requires brain biopsy or autopsy confirming prion deposition and spongiform changes.

There is no cure or proven disease-modifying therapy; management is supportive. Public health measures to control BSE exposure remain essential to reducing future risk of vCJD.