Canadian researchers have developed a groundbreaking skin-based diagnostic test for progressive supranuclear palsy (PSP). The test can detect specific misfolded tau proteins with 90% accuracy, potentially revolutionizing disease diagnosis. This method could help clinicians more precisely identify PSP and recommend appropriate clinical trials. The research, published in JAMA Neurology, offers hope for more targeted treatment of this rare neurodegenerative condition.
May 01, 2025
New skin-based test to boost diagnosis of debilitating neurodegenerative disease
Canadian
researchers have developed a skin-based test that can detect signature features
of progressive supranuclear palsy (PSP) -- a rare neurodegenerative disease
that affects body movements, including walking, balance, and swallowing.
Key Points
1 Innovative
skin test detects misfolded tau proteins in neurodegenerative diseases
2 Provides 90%
sensitivity for progressive supranuclear palsy
3 Potentially
improves clinical trial patient selection
4 Reduces
misdiagnosis risks
The test could
allow for more accurate and faster PSP diagnosis than current methods, said the
team from the University Health Network (UHN) and the University of Toronto.
"This assay
is important for assigning patients to the correct clinical trials, but it will
be even more important in the future as researchers develop targeted, precision
treatments for PSP," said Ivan Martinez-Valbuena, a scientific associate
at the Rossy Progressive Supranuclear Palsy Centre at the UHN.
"We need
diagnostic tools to be developed hand-in-hand with new treatments so that as
these treatments become available, we can identify the patients who would
benefit most," she added.
While researchers
have successfully detected misfolded proteins in neurodegenerative diseases,
the technique has not always been accessible, and some patients are unable to
undergo the procedure.
As a result,
patients are typically diagnosed based on their symptoms and clinical
presentation, so some patients may be misdiagnosed -- particularly for rarer
neurodegenerative diseases such as PSP. This could also have a negative impact
on research since patients with PSP may be misdiagnosed with Parkinson's
disease and be included in a trial that targets the wrong protein, influencing
the results.
The new test,
described in a recent issue of JAMA Neurology, can detect a sequence of
misfolded tau specific to PSP.
The results
showed that "disease-associated tau protein can be detected in the skin in
living patients with high accuracy," said Gabor Kovacs, professor of
laboratory medicine and pathobiology at Toronto University's Temerty Faculty of
Medicine.
Further,
examining skin biopsies of patients with PSP as well as people with multiple
system atrophy, corticobasal degeneration, Parkinson's disease, and healthy
controls, the team found misfolded tau in most patients with PSP, but much less
frequently in other neurodegenerative diseases.
Importantly, the
misfolded tau protein was not detected in patients with Parkinson's disease or
the healthy controls. Overall, the researchers found the assay had 90 per cent
sensitivity and 90 per cent specificity.
Martinez-Valbuena
said the test could be incorporated into a panel of blood- and skin-based
tests, along with clinical information, to help clinicians make more precise
diagnoses and recommend more appropriate clinical trials.
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