Prion disease - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Prion diseases are a group of rare, uniformly fatal neurodegenerative diseases. In humans they occur in three forms: sporadic (85% to 90% of cases), genetic (10% to 15%), and acquired (<1%).
Prions, or proteinaceous infectious particles, are the misshaped proteins responsible for causing transmissible spongiform encephalopathies, or prion diseases.
Present as very rapidly progressive dementias. Symptoms may vary, but include behavioral/psychiatric changes, memory impairment, visual disturbances, myoclonus, ataxia, language and hearing problems, and movement dysfunction.
Misdiagnosis is common, as Creutzfeldt-Jakob disease (CJD) can present similarly to other neurologic conditions. Pathology currently is the only definitive way to diagnose prion disease, although biopsy and even autopsy may yield false-negative results.
Premortem diagnostic tools that may be helpful include MRI, EEG, and CSF findings, as well as blood tests to rule out other conditions. Brain MRI, particularly diffusion-weighted imaging, has very high sensitivity and specificity for CJD, as does the real-time quaking-induced conversion (RT-QuIC) test on CSF.

Diffuse cortical ribboning (arrows) seen on (A) diffusion-weighted imaging (DWI) and less so on (B) fluid-attenuated inversion recovery (FLAIR) MRI. Both sequences show cerebral cortex gyral hyperintensities

From the personal collection of Dr M. Geschwind

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Definition

Epidemiology

Etiology

Pathophysiology

Images

Changes in the basal ganglia seen in Creutzfeldt-Jakob disease. (A) Fluid-attenuated inversion recovery MRI and (B) diffusion-weighted MRI of the same patient demonstrate bilateral basal ganglia hyperintensities (arrows). There is also mild bilateral medial thalamus and pulvinar hyperintensity
Bilateral medial thalamus and pulvinar hyperintensity (arrowheads) on (A) fluid-attenuated inversion recovery and (B) diffusion-weighted MRI in a patient with Creutzfeldt-Jakob. This patient also has significant basal ganglia hyperintensity on both sequences (arrows)
Diffuse cortical ribboning (arrows) seen on (A) diffusion-weighted imaging (DWI) and less so on (B) fluid-attenuated inversion recovery (FLAIR) MRI. Both sequences show cerebral cortex gyral hyperintensities

Citations

Key Articles

Department of Health. Minimise transmission risk of CJD and vCJD in healthcare settings. Nov 2021 [internet publication].[Full Text]
Centers for Disease Control and Prevention. BSE (Bovine spongiform encephalopathy, or mad cow disease). Sep 2021 [internet publication].[Full Text]
American College of Radiology. ACR appropriateness criteria: movement disorders and neurodegenerative diseases. 2019 [internet publication].[Full Text]

Other Online Resources

UK Department of Health: minimise transmission risk of CJD and vCJD in healthcare settings
National Prion Disease Pathology Surveillance Center
Public Health Agency of Canada: prion disease information
WHO: bovine spongiform encephalopathies
University of California San Francisco Medical Center: Memory and Aging Center
CDC: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Disease Foundation Inc.
ClinicalTrials.gov

Referenced Articles

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