NEW DELHI– Canadian researchers have developed a promising skin-based diagnostic test capable of accurately detecting progressive supranuclear palsy (PSP), a rare and debilitating neurodegenerative disorder that impairs movement, balance, and swallowing.
Scientists from the University Health Network (UHN) and the University of Toronto say the test could significantly improve the speed and accuracy of PSP diagnoses, which currently rely heavily on clinical evaluation and often lead to misdiagnosis.
“This assay is crucial for assigning patients to the correct clinical trials, but its importance will only grow as targeted, precision therapies for PSP are developed,” said Ivan Martinez-Valbuena, a scientific associate at the Rossy Progressive Supranuclear Palsy Centre at UHN. “We need diagnostic tools to evolve alongside treatments so we can identify the patients most likely to benefit.”
While scientists have long known how to detect misfolded proteins—biomarkers of neurodegenerative diseases—many current techniques are invasive, expensive, or not widely accessible. As a result, PSP is often confused with conditions like Parkinson’s disease, complicating clinical trials and treatment strategies.
The new test, detailed in JAMA Neurology, detects a specific misfolded tau protein associated with PSP in small skin samples from living patients. “Our findings show that disease-associated tau protein can be detected in the skin of living PSP patients with high accuracy,” said Dr. Gabor Kovacs, professor of laboratory medicine and pathobiology at the University of Toronto’s Temerty Faculty of Medicine.
In the study, researchers analyzed skin biopsies from patients with PSP, Parkinson’s disease, multiple system atrophy, corticobasal degeneration, and healthy controls. Misfolded tau was identified in the vast majority of PSP patients, but rarely in other neurodegenerative conditions—and never in Parkinson’s patients or healthy individuals. The test demonstrated a 90% sensitivity and 90% specificity rate.
These findings mark a significant step forward in diagnosing PSP, which affects thousands worldwide but is often misclassified due to overlapping symptoms with other disorders.
Martinez-Valbuena emphasized that the test could eventually be part of a broader diagnostic panel combining skin and blood-based biomarkers with clinical assessments. “This approach could give doctors the tools they need to make more precise diagnoses and guide patients toward the right clinical trials and treatments,” she said.
If further validated, the skin test could not only enhance early detection but also reshape how patients are selected for emerging therapies—bringing hope to those living with one of the most challenging neurological diseases. (Source: IANS)
