Diagnosis:
Combination of clinical features and imaging
Genetics:
Autosomal dominant
Clinical features:
Insomnia, sympathetic over activity, impaired attention
Ataxia, dysarthria,
Memory loss
Hormone abnormalities: increased cortisol,
Polysomnography: reduced total sleep time, absent REM sleep, absent deep nonREM sleep,
Findings on Investigations:
MRI:
- Normal or cerebral or cerebellar atrophy
PET:
- Decreased metabolism in the thalami
CSF:
- 14-3-3. usually negative
Pathology:
Neuronal loss & gliosis: Thalamic (mediodorsal & anteroventral nuclei), inferior olivary nuclei
PrP in cerebellum, olivary nuclei, neocortex
Spongiform (vacuolar) change
PRNP gene chr. 20p mutation usually D178N with methionine at codon 129.