Prion transmitted diseases

Question 1

Causes

Answer 1

The feature is transmissible spongiform encephalopathy, e.g.

• Creutzfeldt–Jakob disease
• Kuru (central highlands New Guinea)
• fatal familial insomnia.

CJD may be:

• sporadic
• familial or
• iatrogenic.

Question 2

Clinical features

Answer 2

Progressive dementia

• starts with personality change and memory loss
• —> eventual loss of speech

Myoclonus

Fatigue and somnolence

Variable neurological features (e.g. ataxia, chorea)

Question 3

Diagnosis

Answer 3

MRI: high signal intensity in thalami

CSF: positive 14-3-3 protein immunoassay

EEG

Question 4

Management

Answer 4

Supportive: no proven specific treatment.

Most patients die within 6 mths.