Creutzfeldt-Jakob disease is a rare, fatal brain disease caused by misfolded prion proteins, most often appearing sporadically in people in their 60s. It causes rapidly worsening dementia over weeks to months, and most patients die within a year.
Key symptoms
- Memory loss and confusion that worsen within weeks
- Changes in behavior, mood or personality
- Unsteady walking and clumsiness
- Sudden muscle jerks, often triggered by noise
- Vision problems
What you find on exam
- Mental status exam showing rapid decline
- Myoclonus and exaggerated startle
- Ataxia and abnormal gait
- Stiffness, brisk reflexes or other movement signs; loss of speech late
Tests
- MRI with diffusion-weighted imaging: bright cortex and basal ganglia
- CSF RT-QuIC test (most specific); 14-3-3 protein
- EEG with periodic sharp wave complexes
- Rule out treatable causes: thyroid, vitamin B12, autoimmune encephalitis, infection
Treatment basics
- No cure; supportive and comfort care
- Clonazepam or levetiracetam for myoclonus
- Early goals of care talk and palliative care
- Standard precautions, plus special sterilization of instruments that touch brain or spinal tissue
- Report to public health
Red flags
- Dementia that progresses over weeks
- New myoclonus with cognitive decline
- Inability to swallow or aspiration
Practice it in Making Synapses
Making Synapses cases
Related guides
Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.