Daijiworld Media Network - New Delhi
New Delhi, Apr 30: Canadian researchers have achieved a significant advancement in the diagnosis of progressive supranuclear palsy (PSP), a rare and debilitating neurodegenerative disease. They have developed a novel skin-based test capable of identifying unique signature features of the condition, which affects crucial bodily functions such as walking, balance, and swallowing.
This innovative test holds the potential for more accurate and significantly faster PSP diagnosis compared to the methods currently available, according to the research team from the University Health Network (UHN) and the University of Toronto.
"This assay is crucial for accurately assigning patients to the appropriate clinical trials. However, its importance will amplify in the future as researchers develop targeted, precision treatments for PSP," emphasized Ivan Martinez-Valbuena, a scientific associate at the Rossy Progressive Supranuclear Palsy Centre at the UHN.
"It is imperative that we develop diagnostic tools in tandem with new treatments. This will ensure that as these treatments become available, we can precisely identify the patients who stand to benefit the most," she added.
While previous research has successfully identified misfolded proteins in other neurodegenerative diseases, the techniques employed have often been inaccessible, and certain patients are unable to undergo the necessary procedures. Consequently, PSP diagnosis currently relies heavily on the observation of symptoms and clinical presentation, leading to potential misdiagnosis, particularly for rarer conditions like PSP. This diagnostic uncertainty can also negatively impact research efforts, as patients with PSP might be incorrectly diagnosed with Parkinson's disease and enrolled in trials targeting the wrong protein, thereby skewing the results.
The groundbreaking new test, detailed in a recent issue of JAMA Neurology, can detect a specific sequence of misfolded tau protein that is characteristic of PSP.
The study's findings demonstrated that “disease-associated tau protein can be detected in the skin of living patients with high accuracy," stated Gabor Kovacs, a professor of laboratory medicine and pathobiology at the University of Toronto's Temerty Faculty of Medicine.
Further analysis of skin biopsies from patients with PSP, as well as individuals with multiple system atrophy, corticobasal degeneration, Parkinson's disease, and healthy control subjects, revealed the presence of misfolded tau in the majority of PSP patients. In contrast, this misfolded protein was detected much less frequently in other neurodegenerative diseases.
Crucially, the misfolded tau protein was not found in patients with Parkinson's disease or in the healthy control group. Overall, the researchers reported that the assay exhibited an impressive 90 per cent sensitivity and 90 per cent specificity.
Martinez-Valbuena suggests that this skin-based test could be integrated into a panel of diagnostic tools, including blood-based tests and clinical information, to empower clinicians to make more precise diagnoses and recommend more appropriate clinical trials for patients with suspected PSP.