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Related Subjects: | Dementias | Gerstmann-Straussler-Scheinker Syndrome (GSS) | Fatal Familial Insomnia (FFI) | Creutzfeldt Jakob disease (CJD) | Variant Creutzfeldt Jakob disease (vCJD) | Kuru

A history of possible exposure to bovine spongiform encephalopathy (BSE) such as residence or travel to a BSE-affected country after 1980 increases the index of suspicion for a variant CJD diagnosis.

About

• Variant CJD seen in younger people
• Prion disease in cows, bovine spongiform encephalopathy UK 1996
• Has a more drawn out the course 13-14 months

Criteria

• Definite
  • Numerous widespread kuru-type amyloid plaques surrounded by vacuoles in both the cerebellum and cerebrum – florid plaques.
  • Spongiform change and extensive prion protein deposition shown by immunohistochemistry throughout the cerebellum and cerebrum.
• Suspected
  • Current age or age at death <55 years (brain autopsy recommended)
  • Psychiatric symptoms at illness onset and/or persistent painful sensory symptoms (frank pain and/or dysesthesia).
  • Dementia, and development > 4 months after illness onset of at least two of the following five neurologic signs: poor coordination, myoclonus, chorea, hyperreflexia, or visual signs. (If persistent painful sensory symptoms exist, =4 months delay in the development of the neurologic signs is not required).
  • Normal or an abnormal EEG, but not the diagnostic EEG changes often seen in classic CJD.
  • Duration of illness of over 6 months.
  • Routine investigations do not suggest an alternative, non-CJD diagnosis.
  • No cadaveric human pituitary growth hormone or a dura mater graft.
  • No CJD in a first degree relative or prion protein gene mutation in the patient.

Clinical

• Age of onset 28-30 years old and course last 13-14 months
• Psychosis and behavioural onset and Painful dysthesias
• Progressive neurodegeneration

Investigations

• EEG - periodic triphasic sharp-wave complexes not seen typically
• CSF - Protein 14-3-3 (also seen in MS and acute stroke)
• MRI of the brain: Pulvinar sign - an abnormal signal in the posterior thalami on T2 and DWI and FLAIR sequences on MRI; in the appropriate clinical context, this signal is highly specific for vCJD.
• Brain biopsy: Florid plaques
• Biopsy: protease resistant prior protein in lymph nodes

Management

• None - only supportive
• Inform CJD surveillance unit if you have a suspected case
• Genetic counselling for familial types