CJD

Question 1

Causes

Answer 1

Creutzfeldt-Jakob disease may occur spontaneously, be inherited or be transmitted by contact with infected tissue, such as during a transplant or from eating contaminated meat.
The condition causes personality changes, anxiety, depression and memory loss, usually within a few months. Many people lapse into coma.
Because no effective treatment exists, the focus is on alleviating pain and relieving symptoms.

Question 2

Symptoms

Answer 2

Cognitive: amnesia, mental confusion, dementia, delusion, disorientation, inability to speak or understand language, or lack of concentration
Muscular: rhythmic muscle contractions, slow bodily movement, jerking muscle spasms, problems with coordination, or overactive reflexes
Mood: anxiety or apathy
Psychological: depression or hallucination
Also common: blurred vision, difficulty speaking, insomnia, personality change, or rapid involuntary eye movement

Question 3

Investigations

Answer 3

Electroencephalography – may have characteristic generalized periodic sharp wave pattern. Periodic sharp wave complexes develop in half of the patients with sporadic CJD, particularly in the later stages.[27]
Cerebrospinal fluid analysis for elevated levels of 14-3-3 protein could be supportive in the diagnosis of sCJD. However, a positive result should not be regarded as sufficient for the diagnosis.[28][29][30] The Real-Time Quaking-Induced Conversion (RT-QuIC) assay has a diagnostic sensitivity of more than 80% and a specificity approaching 100%, tested in detecting PrPScin CSF samples of CJD patients.[31][32][33] It is therefore suggested as a high-value diagnostic method for the disease.
MRI of the brain – often shows high signal intensity in the caudate nucleus and putamen bilaterally on T2-weighted images