General Practitioners should be aware of Creutzfeldt-Jakob Disease, although they may never see a case. A prompt referral to a neurologist should follow observation of any suspicious pattern of symptoms.
Key Prion Disease Diagnostics
Cerebrospinal Fluid Diagnostics:
- Real-Time Quaking Induced Conversion (RT-QuIC): RT-QuIC can detect the actual prions in the spinal fluid and is 98.5% diagnostic for prion disease. For more information:
- 14-3-3: A marker of neurodegeneration or brain damage. The test results can be positive, negative, or ambiguous.
- Tau: A marker of neurodegeneration or brain damage. The test result is a number (0-tens of thousands).
Magnetic Resonance Imaging (MRI): A radiology technique that uses magnetism, radio waves and a computer to produce non-invasive, high quality images of internal structures of the body. An MRI is painless, does not use x-ray radiation and is a powerful tool for delineating brain structure.
MRI findings may be bilateral or unilateral, and symmetric or asymmetric. They can include:
- T2: hyperintensity in the basal ganglia, thalamus, cortex, or white matter
- DWI/ADC: persistent restricted diffusion
For more information: “MRI Findings Are Often Missed in the Diagnosis of CJD”: https://bmcneurol.biomedcentral.com/articles/10.1186/1471-2377-12-153
Diffusion Weighted Imaging (DWI): is an MRI technique that can be used to help diagnose CJD.
Electroencephalogram (EEG): Flat metal discs (electrodes) placed on the patient’s scalp detect and record the patterns of electrical activity generated by the brain. Can help in diagnosing CJD.
Protein misfolding cyclic amplification (PMCA): is an amplification technique to multiply prions. PMCA technology has been used in research to understand the molecular mechanism of prion replication, the nature of the infectious agent, the phenomenon of prion strains and species barrier, the effect of cellular components, to detect PrPSc in tissues and biological fluids and to screen for inhibitors against prion replication.
New diagnostic targets under investigation: Blood, urine, nasal brushings, skin.