Rapidly progressive, invariably fatal neurodegenerative disorder believed to be caused by an abnormal isoform of a cellular glycoprotein known as a prion

Aetiology

• Sporadic - patients ~ 60 years
• Variant - patients ~ 20 years, due to BSE exposure
• Iatrogenic - patients ~ 30 years
• Genetic - affects any age group

Pathophysiology

• Creutzfeldt-Jakob disease is caused by prions, misfolded proteins that induce normal proteins within the brain to misfold and aggregate, leading to neuronal loss
• Prions lack nucleic acid and are resistant to procedures that modify nucleic acids

Clinical features

• Rapidly progressive dementia
• Neurological symptoms including ataxia, weakness, and visual disturbances
• Psychiatric impairment, often preceding the neurological symptoms
• Myoclonus, particularly triggered by startle

Investigations

• Tissue biopsy: tonsil or olfactory mucosal biopsy being less invasive and safer than brain biopsy
• Supportive investigations include EEG, MRI and lumbar puncture

Management

• Symptom control: medications to control psychiatric symptoms, myoclonus, and other neurological symptoms
• Palliative care: pain control, nutrition support, and management of other distressing symptoms