Canada’s University Health Network (UHN) and the University of Toronto (U of T) researchers have created a skin-based test that identifies progressive supranuclear palsy (PSP) features.
This rare neurodegenerative condition impacts movements in the body, including balance, swallowing, and walking.
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According to the universities, neurodegenerative diseases are characterised by the accumulation of misfolded proteins such as alpha synuclein or tau proteins, in the brain and nervous system cells.
While these proteins can be detected in cerebrospinal fluid, procurement of samples via lumbar puncture is not always feasible.
Consequently, PSP diagnosis has traditionally relied on symptom observation and clinical presentation, leading to potential misdiagnosis.
UHN’s Krembil Brain Institute and U of T’s Tanz Centre for Research in Neurodegenerative Diseases Rossy PSP Centre scientific associate Ivan Martinez-Valbuena said: “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.”
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By GlobalDataThe PSP diagnostic research builds upon a previous study by Martinez-Valbuena and colleagues, who developed a test for detecting misfolded alpha synuclein protein in the skin of Parkinson’s patients.
Leveraging a similar technology to that of the alpha synuclein assay, the researchers developed a test for detecting a misfolded tau protein sequence associated with PSP.
The collaborative effort involved Martinez-Valbuena; his supervisor, Gabor Kovacs; and a clinical team led by Anthony Lang, who serves as director of the Rossy Progressive Supranuclear Palsy Centre. They validated the test using samples from patients.
In their study, the researchers tested skin biopsies from PSP subjects and also samples from individuals with other neurodegenerative diseases and healthy controls.
They observed that misfolded tau was prevalent in PSP patients but not in those with Parkinson’s disease or healthy individuals. The test demonstrated 90% sensitivity and specificity.
Martinez-Valbuena noted that the test, as part of a diagnostic panel, including skin- and blood-based tests, will assist clinicians in making more diagnoses.
The team is currently validating the assay in a broader clinical trial across five PSP centres in Europe and North America, aiming to make it practical for use beyond research institutions.
