Creutzfeldt-Jakob disease

Question 1

What is Creutzfeldt-Jakob disease (CJD)?

Answer 1

Rapidly progressive neuro condition
Caused by prion proteins (PP). These are mis-shaped proteins
PP induce formation of amyloid folds = get tightly packed beta-pleated sheets that are resistant to proteases

Question 2

Presentation of Creutzfeldt-Jakob disease (CJD)?

Answer 2

Rapid onset dementia
Psychiatric impairment
Myoclonus

Additional symptoms from QM:
seizures, speech and language impairment

Question 3

How is Creutzfeldt-Jakob disease (CJD) investigated?

Answer 3

Tissue biopsy = needed for Dx. Ideally, from tonsil or olfactory mucosa. This is safer than brain.

EEG
MRI
LP

Question 4

What is characteristically seen in EEG of pt with sporadicCreutzfeldt-Jakob disease (CJD)?

Answer 4

biphasic, periodic, high amplitude sharp-wave complexes

Question 5

What is seen in MRI of pt with Creutzfeldt-Jakob disease (CJD)?

Answer 5

hyperintense signals in the Basal ganglia and thalamus

Question 6

What is seen in LP of pt w/ Creutzfeldt-Jakob disease (CJD)?

Answer 6

Abnormal proteins e.g. 14-3-3 protein

Question 7

Distinguish between MRI findings for sporadic CJD and variant CJD

Answer 7

Variant CJD = high signal in posterior thalamus

Sporadic CJD = high signal in caudate and putamen

Question 8

Most common presenting features of variant Creutzfeldt-Jakob disease (CJD)?

Answer 8

Younger pt - usually around 25yrs
Anxiety
Withdrawal
Dysphonia

Question 9

Management of Creutzfeldt-Jakob disease (CJD)?

Answer 9

No cure
Conservative management - symptom control and palliative care

Question 10

Prognosis of Creutzfeldt-Jakob disease (CJD)?

Answer 10

Poor - <1yr for sporadic cases.