Creutzfeldt-Jakob disease

Question 1

• Creutzfeldt-Jakob disease*
• Define:*

Answer 1

(CJD), also known as subacute spongiform encephalopathy* or *neurocognitive disorder due to prion disease, is an invariably fatal degenerative brain disorder.

Early symptoms include memory problems, behavioral changes, poor coordination, and visual disturbances.

Question 2

prion disease

Define:

Answer 2

A prion disease

is a type of proteopathy, or disease of structurally abnormal proteins

-A prion is a type of protein that can trigger normal proteins in the brain to fold abnormally

Question 3

Creutzfeldt-Jakob disease

also know as:

Answer 3

transmissible spongioform encephalopathy (TSE)

or

• prion disease*
• results in rapidly progressive dementia

Question 4

Creutzfeldt-Jakob disease

Pathophysiology:

Answer 4

Prions (infectious protein) alter structure of neighbouring proteins

Question 5

• What are the 4 categories*
• of*

prion diseases?

Answer 5

4 main forms are:

• Genetic- (PRNP mutation)
• Sporadic (90%)
• Acquired (iatrogenic)- conrneal transplant, dura graft, electrode implant

_{<u><em>-Variant</em></u><em>- “mad cow disease”; bovine-to-human then human-to-human (via transfusion)</em>}

_{Note: Genetic disease is caused by an abnormality in a gene (specifically a mutation in the prion protein gene, PRNP).}

Question 6

Creutzfeldt-Jakob disease

early symptoms:

Answer 6

dementia, involuntary movement, visual disturbances, cerebellar signs

Question 7

Creutzfeldt-Jakob disease

late symptoms:

Answer 7

akinetic mutism, severe myoclonus,

epileptic seizure, autonomic dysfunction

Question 8

Creutzfeldt-Jakob disease

Diagnosis**:

Answer 8

EEG, CSF contains 14-3-3 protein

definitive diagnosis is biopsy: intra-cytoplasmic vacuoles, cortical atrophy, neuronal loss with gliosis

Typical feature are:

1. spongiform encephalopathy, caused by intra-cytoplasmic vacuoles;
2. mild cortical atrophy with ventrical dilation;
3. neuronal loss with gliosis;
4. no significant inflammation

Question 9

Creutzfeldt-Jakob disease

Risk Factors and Treatment:

Answer 9

familial and rarely iatrogenic

– corneal transplantation, electrode implant, dural matter graft, Cannibalism (Kuru)

NO Treatment - patients die withing 1 year