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

Recommendations for the detection and diagnosis of Niemann-Pick disease type C

Patterson, M. C., Clayton, P. T., Gissen, P., Anheim, M., Bauer, P., Bonnot, O., Dardis, A., Dionisi‐Vici, C., Klünemann, H.-H., Latour, P., et al. (2017) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000000399 · Cited by 163

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?

Eratne, D., Loi, S. M., Walia, N., Farrand, S., Li, Q.-X., Varghese, S., Walterfang, M., Evans, A., Mocellin, R., Dhiman, K., et al. (2020) · Australian & New Zealand Journal of Psychiatry · doi:10.1177/0004867419857811 · Cited by 56

Systematic review of psychiatric signs in Niemann-Pick disease type C

Bonnot, O., Klünemann, H.-H., Velten, C., Martin, J. V. T., & Walterfang, M. (2018) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2018.1441548 · Cited by 49

Neurofilament-Light Chain as Biomarker of Neurodegenerative and Rare Diseases With High Translational Value

Loeffler, T., Schilcher, I., Flunkert, S., & Hutter‐Paier, B. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00579 · Cited by 67

The role of neurofilament light chain in frontotemporal dementia: a meta-analysis

Karantali, E., Kazis, D. A., Chatzikonstantinou, S., Petridis, F., & Mavroudis, I. A. (2020) · Aging Clinical and Experimental Research · doi:10.1007/s40520-020-01554-8 · Cited by 56

New developments of biofluid‐based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia

del Campo, M., Zetterberg, H., Gandy, S., Onyike, C. U., Oliveira, F., Udeh‐Momoh, C., Lleó, A., Teunissen, C. E., & Pijnenburg, Y. (2022) · Alzheimer's & Dementia · doi:10.1002/alz.12643 · Cited by 52

Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings

Eratne, D., Loi, S. M., Li, Q., Stehmann, C., Malpas, C. B., Santillo, A. F., Janelidze, S., Cadwallader, C. J., Walia, N., Ney, B., et al. (2022) · Alzheimer s & Dementia · doi:10.1002/alz.12549 · Cited by 46

Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives

Eratne, D., Janelidze, S., Malpas, C. B., Loi, S. M., Walterfang, M., Merritt, A. H., Diouf, I., Blennow, K., Zetterberg, H., Cilia, B.-J., et al. (2021) · Australian & New Zealand Journal of Psychiatry · doi:10.1177/00048674211058684 · Cited by 33

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

Agrawal, N., Farhat, N. Y., Sinaii, N., Do, A. N. D., Xiao, C., Berry‐Kravis, E., Bianconi, S. E., Masvekar, R. R., Bielekova, B., Solomon, B. I., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.11.017 · Cited by 34

Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting

Eratne, D., Kang, M. J., Lewis, C. C., Dang, C., Malpas, C. B., Keem, M. H., Grewal, J. K., Marinov, V., Coe, A., Kaylor‐Hughes, C., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.14278 · Cited by 29

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Campbell, K. S., Cawley, N. X., Luke, R., Scott, K. E. J., Johnson, N., Farhat, N. Y., Alexander, D. M., Wassif, C. A., Li, W., Cologna, S. M., et al. (2023) · Biomarker Research · doi:10.1186/s40364-023-00448-x · Cited by 26

Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from non-progressors

Eratne, D., Keem, M. H., Lewis, C., Kang, M. J., Walterfang, M., Farrand, S., Loi, S. M., Kelso, W. M., Cadwallader, C. J., Berkovic, S. F., et al. (2022) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2022.120439 · Cited by 22

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

Welford, R. W. D., Farine, H., Steiner, M. A., Garzotti, M., Dobrenis, K., Sievers, C., Strasser, D. S., Amraoui, Y., Groenen, P. M. A., Giugliani, R., et al. (2022) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2022.100843 · Cited by 19

Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD)

Dardis, A., Pavan, E., Fabris, M., Riol, R. M. D., Sechi, A., Fiumara, A., Santoro, L., Ormazábal, M., Milanič, R., Zampieri, S., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10204796 · Cited by 18

Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)

Stern, S., Crisamore, K., Schuck, R. N., & Pacanowski, M. A. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03233-7 · Cited by 8

Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal

Eratne, D., Lewis, C., Kelso, W. M., Loi, S. M., Chiu, W.-H. M., Blennow, K., Zetterberg, H., Santillo, A. F., Velakoulis, D., Walterfang, M., et al. (2024) · Acta Neuropsychiatrica · doi:10.1017/neu.2024.14 · Cited by 7

Plasma neurofilament light chain is not elevated in people with first-episode psychosis or those at ultra-high risk for psychosis

Kang, M. J., Eratne, D., Wannan, C., Santillo, A. F., Velakoulis, D., Pantelis, C., & Cropley, V. (2024) · Schizophrenia Research · doi:10.1016/j.schres.2024.04.003 · Cited by 7

Cerebrospinal fluid neurofilament light and cerebral atrophy in younger‐onset dementia and primary psychiatric disorders

Walia, N., Eratne, D., Loi, S. M., Farrand, S., Li, Q., Malpas, C. B., Varghese, S., Walterfang, M., Evans, A. H., Parker, S., et al. (2023) · Internal Medicine Journal · doi:10.1111/imj.15956 · Cited by 6

Emerging biomarkers in Gaucher disease

Luettel, D. M., Terluk, M. R., Roh, J., Weinreb, N. J., & Kartha, R. V. (2025) · Advances in clinical chemistry · doi:10.1016/bs.acc.2024.11.001 · Cited by 6

Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease

Hołub, T., Kędzierska, K., Muras-Szwedziak, K., & Nowicki, M. P. (2021) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2021.01115 · Cited by 6

Cerebrospinal fluid neurofilament light predicts the rate of executive function decline in younger-onset dementia

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., et al. (2021) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2021.120088 · Cited by 6

Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease

Rangel, D. M., Melo, M. C. A., Pedroso, J. L., Barsottini, O. G. P., Sobreira-Neto, M. A., & Braga‐Neto, P. (2020) · The Cerebellum · doi:10.1007/s12311-020-01156-0 · Cited by 6

Biomarker Validation in NPC1 : Foundations for Clinical Trials and Regulatory Alignment

Casazza, K., Cologna, S. M., Berry‐Kravis, E., Jarnes, J. R., & Porter, F. D. (2025) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.70075 · Cited by 3

Differential involvement of hippocampal subfields in Niemann-Pick type C disease: a case–control study

Wibawa, P., Kurth, F., Eileen Luders, A., Pantelis, C., Cropley, V., Biase, M. A. D., Velakoulis, D., & Walterfang, M. (2021) · Metabolic Brain Disease · doi:10.1007/s11011-021-00782-9 · Cited by 3

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1

Cawley, N. X., Zhou, R., Mylvara, A. V., Padilla, C. J., Alexander, D. M., Farhat, N. Y., Alvarez, C., Cougnoux, A., Berry‐Kravis, E., Cologna, S. M., et al. (2025) · Genetics in Medicine Open · doi:10.1016/j.gimo.2025.103443 · Cited by 2

Plasma neurofilament light chain is elevated in Niemann-Pick Type C but glial fibrillary acidic protein is notPreprint

Eratne, D., Lewis, C. C., Kelso, W. M., Loi, S. M., Chiu, W.-H. M., Blennow, K., Zetterberg, H., Santillo, A. F., Velakoulis, D., Walterfang, M., et al. (2023) · medRxiv · doi:10.1101/2023.12.12.23299884

Additional file 1 of Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Campbell, K. S., Cawley, N. X., Luke, R., Scott, K. E. J., Johnson, N., Farhat, N. Y., Alexander, D. M., Wassif, C. A., Li, W., Cologna, S. M., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22607966

Additional file 2 of Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)

Stern, S., Crisamore, K., Schuck, R. N., & Pacanowski, M. A. (2024) · Figshare · doi:10.6084/m9.figshare.26384701

Additional file 3 of Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Campbell, K. S., Cawley, N. X., Luke, R., Scott, K. E. J., Johnson, N., Farhat, N. Y., Alexander, D. M., Wassif, C. A., Li, W., Cologna, S. M., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22607972

Additional file 1 of Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)

Stern, S., Crisamore, K., Schuck, R. N., & Pacanowski, M. A. (2024) · Figshare · doi:10.6084/m9.figshare.26384650

Additional file 2 of Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Campbell, K. S., Cawley, N. X., Luke, R., Scott, K. E. J., Johnson, N., Farhat, N. Y., Alexander, D. M., Wassif, C. A., Li, W., Cologna, S. M., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22607969

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1Preprint

Singhal, K., Menold, M. T., Cawley, N. X., Campbell, K. S., Farhat, N. Y., Alexander, D. M., Dale, R., & Porter, F. D. (2026) · medRxiv · doi:10.64898/2026.01.12.26343721

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1

Singhal, K., Menold, M. T., Cawley, N. X., Campbell, K. S., Farhat, N. Y., Alexander, D. M., Dale, R., & Porter, F. D. (2026) · Biomarker Research · doi:10.1186/s40364-026-00927-x

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

Agrawal, N., Farhat, N. Y., Sinaii, N., Do, A. N. D., Xiao, C., Berry‐Kravis, E., Bianconi, S. E., Masvekar, R. R., Bielekova, B., Solomon, B. I., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.11.017 · Cited by 34

Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal

Eratne, D., Lewis, C., Kelso, W. M., Loi, S. M., Chiu, W.-H. M., Blennow, K., Zetterberg, H., Santillo, A. F., Velakoulis, D., Walterfang, M., et al. (2024) · Acta Neuropsychiatrica · doi:10.1017/neu.2024.14 · Cited by 7

Plasma neurofilament light chain is elevated in Niemann-Pick Type C but glial fibrillary acidic protein is notPreprint

Eratne, D., Lewis, C. C., Kelso, W. M., Loi, S. M., Chiu, W.-H. M., Blennow, K., Zetterberg, H., Santillo, A. F., Velakoulis, D., Walterfang, M., et al. (2023) · medRxiv · doi:10.1101/2023.12.12.23299884

Cerebrospinal Fluid and Serum Neuron‐Specific Enolase in Niemann‐Pick Disease Type C1

Padilla, C. J., Alexander, D. M., Labor, D. A., Albert, O. K., Robbins, K. P., Berry‐Kravis, E., & Porter, F. D. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63970 · Cited by 2

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?

Eratne, D., Loi, S. M., Walia, N., Farrand, S., Li, Q.-X., Varghese, S., Walterfang, M., Evans, A., Mocellin, R., Dhiman, K., et al. (2020) · Australian & New Zealand Journal of Psychiatry · doi:10.1177/0004867419857811 · Cited by 56