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New Blood Test Identifies Biomarkers for Early Diagnosis of ALS, FTD, and PSP

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Blood test for neurodegenerative disease diagnosis

Researchers say they have found a blood marker that could help in identifying and diagnosing three neurodegenerative diseasesfrontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy (PSP). 

They have published their findings in the journal Nature Medicine. The researchers noted how each of the neurodegenerative diseases operates: The study included 991 participants, some of whom were affected by one of the three diseases and others who belonged to a control group of healthy individuals. Each of these diseases can be characterized by serious health issues, including but not limited to dementia, behavioral symptoms, paralysis, muscle wasting, and movement impairments. 

The new blood test involved determining levels of proteins called tau and TDP-43 in vesicles, which are tiny lipid (fat) sacs that can enter into the bloodstream. The test is not ready yet for routine medical use, but experts say it shows great promise. These rare diseases cause severe disability and due to being uncommon there are often delays in these diagnoses. In their opinion, clinical pictures are very different, and a clinical neurologist should be able to isolate the symptoms and then send a patient to a dedicated neuromuscular neurologist to confirm a general neurologist’s suspicion for ALS, and similarly to a movement disorder neurologist to confirm the suspicion for PSP and to a cognitive behavioral neurologist to confirm the suspicion for FTD. 

The authors note that it is difficult to definitively diagnose a person with a neurodegenerative disease during their lifetime because brain tissue must be examined for tau and TDP-43 proteins, which might play a role in all three. For FTS, there needs to be a combination of both. For ALS, the presence of TDP-43 is enough. For PSP, the presence of tau protein is sufficient. 

Experts say the discovery of blood markers (also called biomarkers) could enable medical professionals to make an accurate diagnosis while someone is still alive. 

Right now, diagnosis of these illnesses includes eliminating other causes of the symptoms.This blood test may help them with earlier diagnosis in some patients where the presentation is not clear. It seems that the level of certain proteins detected could suggest a higher disease burden in these patients. Currently, they do not have any disease-modifying therapies for these conditions, but this could help us group patients better in terms of chronicity when there are available treatments. 

Blood biomarkers probably aren’t going to replace a clinical diagnosis. 

Blood tests like this proposed tau-vesicle test may be used in addition to a detailed neurological exam from a clinical neurologist. In neurology a good clinical exam often is more valuable than blood tests. The biggest takeaway is that this is the first biomarker that enables the identification of underlying disease pathology in ALS, FTD, and PSP. 

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