Skin test detects rare neurodegenerative disorder?

Adéla Ondráčková
4 days ago
2 min read

Progressive supranuclear palsy, also known as Steele-Richardson-Olszewski syndrome, is a rare neurological disease that affects movement, balance, and cognition. It’s caused by damage of cells in parts of the brain that control important functions, such as balance, movement, or thinking processes. With no cure for this condition, treatment plans have to focus on symptom management, and the patient gets worse, developing risks for complications like pneumonia or trouble swallowing. But what if diagnosing it earlier in life could help?

New research has developed a skin-based test to diagnose progressive supranuclear palsy. By analyzing a small skin biopsy, the test detects tau or α-synuclein proteins with altered expression, biological markers specific to neurodegenerative diseases, including progressive supranuclear palsy. This method can however distinguish those disorders, achieving 90% sensitivity and 90% specificity, meaning it operates highly accurately. Compared to that, current diagnostic tools are heavily dependent on clinical symptoms or even invasive procedures like a lumbar puncture. The new test could therefore provide a faster, less invasive, and more precise diagnosis.

If this was used in actual practice, it would help greatly. Early and accurate diagnosis of progressive supranuclear palsy is difficult right now, since the symptoms overlap with more common conditions, and patients can often be misdiagnosed, which not only delays appropriate care but can also falsely modify clinical trial results.

Better patient selection for clinical trials, more personalized treatments, and improved accuracy in diagnosing neurodegenerative conditions, these would be the outcomes of the implementation of this revolutionary test. Of course, nothing is this smooth and easy, but if it gets the green light after clinical trials, this will reshape the routine of diagnosing and treating neurological conditions, including the rare progressive supranuclear palsy.

Resources:

Martinez-Valbuena I., et al. (2024) Four-Repeat Tau Seeding in the Skin of Patients With Progressive Supranuclear Palsy

Martinez-Valbuena I., et al. (2022) Combining skin α-synuclein real-time quaking-induced conversion and circulating neurofilament light chain to distinguish multiple system atrophy and Parkinson’s disease

Saijo E., et al. (2020) 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration