How are prions diagnosed?

Diagnosing prion diseases can be challenging due to the subtle and often non-specific early symptoms. Diagnostic methods include a combination of clinical evaluation, brain imaging, and laboratory tests. MRI and CT scans may reveal characteristic changes in brain structure. Lumbar puncture to analyze cerebrospinal fluid (CSF) can detect specific biomarkers associated with prion diseases. Genetic testing can identify mutations in the prion protein gene in cases of inherited prion diseases. Additionally, brain biopsy or autopsy may be required to confirm the diagnosis by identifying abnormal prion protein deposits in brain tissue.