Initial Presentation

• A 49-year-old Chinese woman has been suffering from progressive dementia, tiredness, and mild difficulty in falling asleep for 2 years. Recently, she developed communication difficulty, and she was unable to work.

• Her family noticed an increase in her appetite and complex visual hallucinations.

Hx

• High school teacher• Healthy lifestyle• Non-smoker and non-drinker• No history of recreational drug use.

Hx Cont’d

Family history:• Both proband’s maternal grandmother, elder

brother (46), and elder sister (37) died with similar symptoms.

• The son of her first cousin has impaired cognitive ability since he was 4; still alive.

Pedigree

Physical Examinations

• BMI: 24• BP: 113/62 mmHg• HR: 79 beats/min• RR: 16/min• Temp: 36.9 °C

Neurological Examinations

• Severe apathy, spontaneous myoclonus of the lower limbs, generalized hyperreflexia, and bilateral Babinski signs.

DDx

• What test should we order?• What organs should we check for?

CSF

• What is a CSF?• What specific substance do we look for in the

CSF?

CSF Cont’d

• Test result indicates 14-3-3 positive (3)

Imaging Study

Sad news!!!

• Unfortunately, the patient died 2 days ago.

What now?

• Brain autopsy (after informed consent from her family member)

• What’s the hallmark gene to look for in the brain autopsy?

PRNP Analysis

Diagnosis

• Genetic CJD

• What is CJD?• What treatment is available?