Clinical utility of plasma neurofilament light chain in the diagnostic screening of psychiatric and neurological disorders: An “ESR” for the brain?

A simple screening blood test available to primary care and specialist physicians could dramatically alter clinical care: reducing the time to accurate diagnosis and allowing earlier, precision treatment, and reducing the need for expensive and time-consuming investigations, with positive outcomes for patients, families and the healthcare system.

The study showed definitive and strong preliminary findings on the strong diagnostic utility of cerebrospinal fluid and blood neurofilament light chain in distinguishing dementia (especially younger-onset) from primary psychiatric and non-neurodegenerative conditions. In addition, the results significantly increased understanding of biomarkers and underlying aetiology in a diverse range of conditions that haven’t previously been studied (e.g. treatment-resistant schizophrenia, epilepsy), and in various settings including primary care.

Project benefits include significantly increased understanding of biomarker utility in neurodegenerative dementia, neurological and psychiatric disorders, many novel and important findings, and in novel settings e.g. community/primary care, development of national blood collection network and standardised protocols to benefit ongoing research, collaborations, and future translation. This study has led to significant expansion and successful funding.

Impacts include significant long-term research and clinical collaborations, increased awareness amongst researchers and clinicians, all of this across the country and internationally, well developed infrastructure and processes to support ongoing and future collaborations, development of national blood collection network and standardised protocols to benefit ongoing research, collaborations, and future translation.

• Dhiman, K., Gupta, V. B., Villemagne, V. L., Eratne, D., Graham, P. L., Fowler, C., Bourgeat, P., Li, Q. X., Collins, S., Bush, A. I., Rowe, C. C., Masters, C. L., Ames, D., Hone, E., Blennow, K., Zetterberg, H., & Martins, R. N. (2020). Cerebrospinal fluid neurofilament light concentration predicts brain atrophy and cognition in Alzheimer’s disease. Alzheimer’s and Dementia: Diagnosis, Assessment and Disease Monitoring, 12(1), 1–9. https://doi.org/10.1002/dad2.12005
• Eratne, D., Janelidze, S., Malpas, C. B., Loi, S., Walterfang, M., Merritt, A., Diouf, I., Blennow, K., Zetterberg, H., Cilia, B., Wannan, C., Bousman, C., Everall, I., Zalesky, A., Jayaram, M., Thomas, N., Berkovic, S. F., Hansson, O., Velakoulis, D., … Kalincik, T. (2021). Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives. Australian & New Zealand Journal of Psychiatry, 000486742110586. https://doi.org/10.1177/00048674211058684
• Eratne, D., Keem, M., Lewis, C., Kang, M., Walterfang, M., Farrand, S., Loi, S., Kelso, W., Cadwallader, C., Berkovic, S. F., Li, Q.-X., Masters, C. L., Collins, S., Santillo, A., & Velakoulis, D. (2022). Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from non-progressors. Journal of the Neurological Sciences, 442, 120439. https://doi.org/10.1016/j.jns.2022.120439
• Eratne, D., Li, Q.-X., Loi, S. M., Walterfang, M., Farrand, S., Evans, A., Mocellin, R., Masters, C. L., Collins, S., & Velakoulis, D. (n.d.). Cerebrospinal fluid Alzheimer disease biomarkers for assessing cognitive and neuropsychiatric symptoms: Expanding the ‘toolkit’ in the psychiatrist’s diagnostic armamentarium. 2.
• Eratne, D., Loi, S. M., Li, Q., Stehmann, C., Malpas, C. B., Santillo, A., Janelidze, S., Cadwallader, C., Walia, N., Ney, B., Lewis, V., Senesi, M., Fowler, C., McGlade, A., Varghese, S., Ravanfar, P., Kelso, W., Farrand, S., Keem, M., … The MiND Study Group. (2022). Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer’s disease and frontotemporal disorders in clinical settings. Alzheimer’s & Dementia, alz.12549. https://doi.org/10.1002/alz.12549
• Eratne, D., Loi, S. M., Li, Q. X., Varghese, S., McGlade, A., Collins, S., Masters, C. L., Velakoulis, D., & Walterfang, M. (2020). Cerebrospinal fluid neurofilament light chain is elevated in Niemann–Pick type C compared to psychiatric disorders and healthy controls and may be a marker of treatment response. Australian and New Zealand Journal of Psychiatry, 54(6), 648–649. https://doi.org/10.1177/0004867419893431
• Eratne, D., Loi, S. M., Walia, N., Farrand, S., Li, Q. X., Varghese, S., Walterfang, M., Evans, A., Mocellin, R., Dhiman, K., Gupta, V., Malpas, C. B., Collins, S., Masters, C. L., & Velakoulis, D. (2020). A pilot study of the utility of cerebrospinal fluid neurofilament light chain in differentiating neurodegenerative from psychiatric disorders: A ‘C-reactive protein’ for psychiatrists and neurologists? Australian and New Zealand Journal of Psychiatry, 54(1), 57–67. https://doi.org/10.1177/0004867419857811
• Eratne, D., & Velakoulis, D. (2022). Occam’s razor trumped by Hickam’s dictum: A case of a patient having as many diseases as they (darn) well please. The Australian and New Zealand Journal of Psychiatry, 56(7), 870–871. https://doi.org/10.1177/00048674211073041
• Ney, B., Eratne, D., Lewis, V., Ney, L., Li, Q.-X., Stehmann, C., Collins, S., & Velakoulis, D. (2021). The Three Glycotypes in the London Classification System of Sporadic Creutzfeldt-Jakob Disease Differ in Disease Duration. Molecular Neurobiology. https://doi.org/10.1007/s12035-021-02396-9
• Vivash, L., Malpas, C. B., Meletis, C., Gollant, M., Eratne, D., Li, Q., McDonald, S., O’Brien, W. T., Brodtmann, A., Darby, D., Kyndt, C., Walterfang, M., Hovens, C. M., Velakoulis, D., & O’Brien, T. J. (2022). A phase 1b open‐label study of sodium selenate as a disease‐modifying treatment for possible behavioral variant frontotemporal dementia. Alzheimer’s & Dementia: Translational Research & Clinical Interventions, 8(1). https://doi.org/10.1002/trc2.12299
• Walia, N., Eratne, D., Loi, S. M., Li, Q.-X., Varghese, S., Malpas, C. B., Walterfang, M., Evans, A. H., Parker, S., Collins, S. J., Masters, C. L., & Velakoulis, D. (2022). Cerebrospinal fluid neurofilament light predicts the rate of executive function decline in younger-onset dementia. Journal of the Neurological Sciences, 432, 120088. https://doi.org/10.1016/j.jns.2021.120088

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