Creutzfeldt-jakob disease

Question 1

What is creutzfeldt-jakob disease?

Answer 1

Rapidly progressive, invariably fatal neurodegenerative disorder mostly believed to be caused by abnormal form of a cellular glycoprotein called a prion.

Question 2

Clinical features?

Answer 2

Rapidly progressive dementia

Neurological disturbances including ataxia, weakness and visual disturbances.

Psychiatric impairment, often preceding the neurological symptoms

Myoclonus (spasmodic jerky action of muscle), particularly triggered by startle.

Question 3

Investigations?

Answer 3

Tissue biopsy: tonsil or olfactory mucosal biopsy being less invasive and safer than brain biopsy.

Supportive investigation can include: EEG, MRI and lumbar puncture.

Question 4

Management?

Answer 4

Symptom control: medications to control psychiatric symptoms, myoclonus and other neurological symptoms.

Palliative care: pain control, nutrition support and management of other distressing symptoms.

Prognosis varies depending on the type of prion disease.