Creutzfeldt-Jakob disease

Question 1

What is it?

Answer 1

CJD describes a group of neuro-degenerative diseases caused by prions (mis-shaped proteins).

CJD can be sporadic (85-90% of cases), genetic (10-15% of cases), or acquired/’variant’(<1% of cases).

Question 2

Clinical Features

Answer 2

rapidly progressive dementia
psychiatric impairment
myoclonus

Question 3

Diagnosis

Answer 3

Diagnosis is by tissue biopsy. Tonsil/olfactory mucosal biopsy is less invasive and safer than brain biopsy.

Supportive investigations include

• EEG (showing periodic sharp-wave complexes)
• MRI (showing basal ganglia hyperintensity)
• lumbar puncture (showing abnormal proteins e.g. 14-3-3 protein).

Question 4

Management

Answer 4

Management is conservative with symptom control and palliative care