The way prion disease is diagnosed is through a combination of clinical evaluations as well as brain imaging through MRI, electrical brain wave tests through EEG and also through cerebrospinal fluid analysis through the highly accurate RT-QuIC test.
Although a definitive diagnoses of prion disease also requires a brain tissue sample.
The diagnostic testing and evaluation for prion disease includes:
Clinical assessment, where doctors check for any rapidly worsening dementia, muscle jerks also known as myoclonus, balance problems and personality shifts.
Brain MRI, in which diffusion weighed imaging or (DWI) highlights specific patterns of damage in your brain tissue.
An RT-QuIC Assay, where a specialized spinal tap test amplifies and detects tiny amounts of misfolded prion proteins in the spinal fluid with very high accuracy.
An EEG, which measures the brain electrical patterns to look for any abnormal periodic waves.
CSF Biomarkers, which tests for general markers of brain cell injury, like the 14-3-3 protein.
Genetic Testing, in which blood tests can identify inherited mutations in the PRNP gene that is linked to familial forms.
And a brain biopsy, to examine the tissue directly that is often done postmortem.
The signs and symptoms of prion disease include, rapidly worsening dementia as well as loss of balance and muscle twitching.
Prion disease is a rare, fatal brain disorder that causes severe neurological changes as misfolded proteins damage your brain tissue.
Prion disease leads to cognitive and mental changes, movement and physical control symptoms and even vision and specialized symptoms.
The vision and specialized symptoms of prion disease include, vision loos, blurry sight, strange visual disturbances and even rare total blindness.
And even severe insomnia, with the total inability to sleep, which is notable in fatal familial insomnia.
Movement and physical control symptoms of prion disease include:
Ataxia, where you have poor balance and awkward, uncoordinated walking.
Myoclonus, where you have sudden, brief and involuntary muscle jerks or twitching.
Stiffness, in which you have muscle rigidity and slow body movements.
And speech issues, including trouble talking or trouble swallowing as the prion disease gets worse.
And the cognitive and mental changes of prion disease include:
Hallucinations, where you see or hear things that are not there.
Confusion, including disorientation and trouble processing information.
Personality shifts, including sudden agitation, depression, anxiety or even apathy.
And rapid dementia, which includes quick loss of memory, thinking skills and judgement.
Prion diseases spread when misshapen proteins force normal proteins in the body to fold the wrong way, which happens through three main ways: sporadic generation, genetic inheritance, and exposure to infected tissue or medical equipment.
How Misfolded Proteins Spread Inside the Body.
The chain reaction: A single bad protein touches a healthy protein and changes its shape into a prion.
Cell travel: Immune cells like dendritic cells pick up these bad proteins and carry them to lymph nodes and the nervous system.
Brain damage: Over months or years, the prions reach the brain, kill cells, and leave tiny holes that make the brain look like a sponge.
The Three Main Causes of Infection.
Sporadic cases: Most cases happen for no known reason when a normal protein suddenly changes shape on its own.
Inherited cases: People can inherit a changed gene from a parent that makes these bad protein shapes much more likely.
Acquired cases: People or animals can catch the prion disease by eating infected meat, receiving tissue or organ transplants, or using dirty surgical tools.