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
Related articles: