Variant Creudtzfedt-Jakob Disease (vCJD)

Synonyms:

New variant CJD,

Diagnosis:

Clinical +/-EEG +/-MRI +/-CSF findings +/-brain biopsy

Clinical features:

Abnormal movements (myoclonus, dystonia, chorea), ataxia, slurred speech, tremor, dementia, akinetic mutism
Non-specific sensory symptoms
Psychiatric symptoms: withdrawal, delusions, depression

Findings on Investigations:

MRI:

  • Thalamic hyperintensities: bilateral pulvinar (posterior thalamus) a.k.a. ‘Pulvinar sign’. In some there is also bilateral dorsomedial nucleus involvement creating ‘hockey stick sign’

EEG: Periodic sharp wave complexes PSWC don’t occur
CSF:

  • No inflammatory cells, sometimes increased protein
  • 14-3-3 protein: found sometimes

Pathology, Brain biopsy:

Affects: pulvinar of the thalamus
Spongiform (vacuolar) changes, gliosis,
“florid plaques”: PrP plaques, that are encircled by vacuoles. These are PrP amyloid plaques surrounded by spongiform change, size 5-50 mm, on H&E hyaline eosinophilic core surrounded by a paler halo. Smaller perivascular and pericellular (around neurons, glial cells) plaques occur.
PrP in spleen & lymphoid tissue
PRNP gene chr. 20p codon 129 status: MM

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