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Levels of a protein called neurofilament light chain (NfL) in the blood can identify those who might have neurodegenerative diseases such as dementia with Down’s syndrome, motor neuron disease (ALS), and frontotemporal dementia, when clinical symptoms are not not final.
Posted in Nature Communication and partly funded by the NIHR Maudsley Biomedical Research Center, the research determined a set of age-related threshold levels of NfL that could inform its potential use in primary care settings through a simple blood test.
Joint lead author of the study, Dr Abdul Hye of the NIHR Maudsley Biomedical Research Center at King’s College London and South London and the Maudsley NHS Foundation Trust said: “For the first time we have shown through a number of disorders that a single biomarker can indicate the presence of underlying neurodegeneration with excellent accuracy. While not specific to any particular disorder, it could be useful in services such as memory clinics as a rapid screening tool to identify whether memory, thinking, or psychiatric problems are the cause. result of neurodegeneration.
Current biomarkers used to identify neurodegenerative disorders are extracted from the fluid that surrounds the brain and spine (cerebrospinal fluid – CSF) which must be extracted using an invasive procedure called a lumbar puncture. Advances have been made to use blood biomarkers that would provide a more accessible and comfortable assessment. A central and irreversible feature of many neurodegenerative disorders is the damage to the nerve fiber which results in the release of the neurofilament light chain (NfL). Using ultra-sensitive tests, NfL can be detected in the blood at low levels and is increased in a number of disorders, unlike phosphorylated tau protein which is specific for Alzheimer’s disease. This means that NfL may be useful in the process of diagnosing many neurodegenerative diseases, most notably in this study of Down syndrome dementia, ALS, and frontotemporal dementia.
The study looked at 3,138 samples from King’s College London, Lund University and the Alzheimer’s Disease Neuroimaging Initiative, including people without cognitive impairment, people with neurodegenerative disorders, people with Down syndrome and people with depression. The study found that blood NfL concentrations were higher in all neurodegenerative disorders compared to those without cognitive problems, the highest being in people with dementia with Down’s syndrome, motor neuron disease and frontotemporal dementia.
The study also showed that although blood-based NfL could not differentiate all disorders, it could provide insight into the different groups within certain disorders. For example, in patients with Parkinson’s disease, a high concentration of NfL indicated atypical Parkinson’s disorder and in patients with Down syndrome, the levels of NfL differed between those with and without dementia.
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