Researchers have discovered a blood marker that could revolutionize the diagnosis of certain neurodegenerative diseases, including frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy (PSP).
Key findings
- Blood markers can help diagnose neurodegenerative diseases.
- Currently, diseases like ALS are diagnosed by ruling out other conditions.
- Definitive diagnosis often occurs post-mortem.
The study, published in Nature Medicine, highlights how these diseases affect the brain:
- FTD: Damage to neurons in the frontal and temporal lobes.
- ALS: Affects motor neurons and nerve cells controlling voluntary muscle movement and breathing.
- PSP: Causes nerve damage affecting walking, balance, and eye function.
Study insights
The study involved 991 participants, including both affected individuals and healthy controls. Researchers focused on proteins called tau and TDP-43 in vesicles, tiny lipid sacs that enter the bloodstream. Although the test is not yet ready for routine use, it shows great promise.
Dr. Clifford Segil, a neurologist at Providence Saint John’s Health Center, commented, “This lab test is a new way to look at tau levels in patients’ blood, but it is challenging to assign what disease abnormal tau levels cause clinically.”
Challenges and future prospects
Diagnosing neurodegenerative diseases during a patient’s lifetime is difficult because brain tissue must be examined for tau and TDP-43 proteins. Dr. Shae Datta from NYU Long Island School of Medicine noted, “Currently, we use clinical presentation, family history, genetic testing, and imaging biomarkers to diagnose these diseases.”
Experts believe that while blood biomarkers won’t replace clinical diagnoses, they can aid in earlier and more accurate diagnoses. “This blood test may help us with earlier diagnosis in some patients where the presentation is not clear,” said Datta.
Implications for treatment
Biomarkers can also provide valuable information during treatment. Anja Schneider, the lead author of the study, stated, “This is the first biomarker that enables the identification of underlying disease pathology in ALS, FTD, and PSP.”
Jennifer Bramen, PhD, from the Pacific Neuroscience Institute, added, “A blood test that can quickly and accurately subtype neurological diseases will improve patient care and accelerate research.”
The discovery of these biomarkers could lead to early diagnosis, effective treatments, and improved quality of life for patients.
