REFERENCES
1. Wang JT, Xu G, Ren RJ, et al. The impacts of health insurance and resource on the burden of Alzheimer’s disease and related dementias in the world population. Alzheimers Dement. 2023;19:967-79.
3. Jia YJ, Ge YJ, Li B, et al. Advances in Alzheimer’s disease: mechanistic insights and therapeutic targets. Sci China Life Sci. 2026;69:2543-74.
4. Hatano T, Okuzumi A, Matsumoto G, Tsunemi T, Hattori N. α-Synuclein: a promising biomarker for Parkinson’s disease and related disorders. J Mov Disord. 2024;17:127-37.
5. Atri A, Dickerson BC, Clevenger C, et al. The Alzheimer’s Association clinical practice guideline for the diagnostic evaluation, testing, counseling, and disclosure of suspected Alzheimer’s disease and related disorders (DETeCD-ADRD): Validated clinical assessment instruments. Alzheimers Dement. 2025;21:e14335.
6. Xu J, Xu X, Guo X, et al. Improving reliability of movement assessment in Parkinson’s disease using computer vision-based automated severity estimation. J Parkinsons Dis. 2025;15:349-60.
7. Gallingani C, Carbone C, Tondelli M, Zamboni G. Neurofilaments light chain in neurodegenerative dementias: a review of imaging correlates. Brain Sci. 2024;14:272.
8. Zetterberg H, Blennow K. Moving fluid biomarkers for Alzheimer’s disease from research tools to routine clinical diagnostics. Mol Neurodegener. 2021;16:10.
9. Rissardo JP, Fornari Caprara AL. Alpha-synuclein seed amplification assays in Parkinson’s disease: a systematic review and network meta-analysis. Clin Pract. 2025;15:107.
10. Kobayashi N. Editorial: Blood, cerebrospinal fluid, and vascular biomarkers for dementia. Front Dement. 2026;5:1747825.
11. Turner MR, Thompson AG, Teunissen CE. Blood level of neurofilament light chain as a biomarker for neurological disorders. BMJ Med. 2025;4:e000958.
12. Bar-Or A, Nicholas J, Feng J, Sorrell F, Cascione M. Exploring the clinical utility of neurofilament light chain assays in multiple sclerosis management. Neurol Neuroimmunol Neuroinflamm. 2025;12:e200427.
13. Devarakonda SS, Basha S, Pithakumar A, et al. Molecular mechanisms of neurofilament alterations and its application in assessing neurodegenerative disorders. Ageing Res Rev. 2024;102:102566.
14. Yuan A, Rao MV, Veeranna, Nixon RA. Neurofilaments and neurofilament proteins in health and disease. Cold Spring Harb Perspect Biol. 2017;9:a018309.
15. Witzel S, Mayer K, Oeckl P. Biomarkers for amyotrophic lateral sclerosis. Curr Opin Neurol. 2022;35:699-704.
16. Khalil M, Teunissen CE, Lehmann S, et al. Neurofilaments as biomarkers in neurological disorders - towards clinical application. Nat Rev Neurol. 2024;20:269-87.
17. Khalil M, Teunissen CE, Otto M, et al. Neurofilaments as biomarkers in neurological disorders. Nat Rev Neurol. 2018;14:577-89.
18. Götze K, Vrillon A, Dumurgier J, et al. Plasma neurofilament light chain as prognostic marker of cognitive decline in neurodegenerative diseases, a clinical setting study. Alzheimers Res Ther. 2024;16:231.
19. Kölliker Frers RA, Otero-Losada M, Kobiec T, et al. Multidimensional overview of neurofilament light chain contribution to comprehensively understanding multiple sclerosis. Front Immunol. 2022;13:912005.
20. Simrén J, Andreasson U, Gobom J, et al. Establishment of reference values for plasma neurofilament light based on healthy individuals aged 5-90 years. Brain Commun. 2022;4:fcac174.
21. Delaby C, Ladang A, Martinez-Yriarte J, et al. Clinical use and reporting of neurofilament quantification in neurological disorders: a global overview. Alzheimers Dement. 2025;21:e70343.
22. van Asperen JV, Kotaich F, Caillol D, Bomont P. Neurofilaments: novel findings and future challenges. Curr Opin Cell Biol. 2024;87:102326.
23. Virata MCA, Catahay JA, Lippi G, Henry BM. Neurofilament light chain: a biomarker at the crossroads of clarity and confusion for gene-directed therapies. Neurodegener Dis Manag. 2024;14:227-39.
24. Kotaich F, Caillol D, Bomont P. Neurofilaments in health and Charcot-Marie-Tooth disease. Front Cell Dev Biol. 2023;11:1275155.
25. Bomont P. The dazzling rise of neurofilaments: physiological functions and roles as biomarkers. Curr Opin Cell Biol. 2021;68:181-91.
26. Uchida A, Peng J, Brown A. Regulation of neurofilament length and transport by a dynamic cycle of phospho-dependent polymer severing and annealing. Mol Biol Cell. 2023;34:ar68.
27. Ding EA, Kumar S. Neurofilament biophysics: from structure to biomechanics. Mol Biol Cell. 2024;35:re1.
28. Sanchez-Tejerina D, Llaurado A, Sotoca J, et al. Biofluid biomarkers in the prognosis of amyotrophic lateral sclerosis: recent developments and therapeutic applications. Cells. 2023;12:1180.
29. Zhu PP, Hung HF, Batchenkova N, et al. Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons. Hum Mol Genet. 2022;31:2779-95.
30. De Paoli LF, Kirkcaldie MTK, King AE, Collins JM. Neurofilament heavy phosphorylated epitopes as biomarkers in ageing and neurodegenerative disease. J Neurochem. 2025;169:e16261.
31. Bittner S, Oh J, Havrdová EK, Tintoré M, Zipp F. The potential of serum neurofilament as biomarker for multiple sclerosis. Brain. 2021;144:2954-63.
32. Teunissen CE, Verberk IMW, Thijssen EH, et al. Blood-based biomarkers for Alzheimer’s disease: towards clinical implementation. Lancet Neurol. 2022;21:66-77.
33. Mollenhauer B, Dakna M, Kruse N, et al. Validation of serum neurofilament light chain as a biomarker of Parkinson’s disease progression. Mov Disord. 2020;35:1999-2008.
34. Sharma P, Giri A, Tripathi PN. Emerging trends: neurofilament biomarkers in precision neurology. Neurochem Res. 2024;49:3208-25.
35. Bavato F, Barro C, Schnider LK, et al. Introducing neurofilament light chain measure in psychiatry: current evidence, opportunities, and pitfalls. Mol Psychiatry. 2024;29:2543-59.
36. La Civita E, Nicolella V, Fiorenza M, et al. Advancing clinical use of neurofilament light chain: translational insights from research to routine practice. Biomark Insights. 2025;20:11772719251364018.
37. Alagaratnam J, von Widekind S, De Francesco D, et al. Correlation between CSF and blood neurofilament light chain protein: a systematic review and meta-analysis. BMJ Neurol Open. 2021;3:e000143.
38. Alirezaei Z, Pourhanifeh MH, Borran S, Nejati M, Mirzaei H, Hamblin MR. Neurofilament light chain as a biomarker, and correlation with magnetic resonance imaging in diagnosis of CNS-related disorders. Mol Neurobiol. 2020;57:469-91.
39. Ulndreaj A, Sohaei D, Thebault S, et al. Quantitation of neurofilament light chain protein in serum and cerebrospinal fluid from patients with multiple sclerosis using the MSD R-PLEX NfL assay. Diagnosis. 2023;10:275-80.
40. Kuhle J, Barro C, Andreasson U, et al. Comparison of three analytical platforms for quantification of the neurofilament light chain in blood samples: ELISA, electrochemiluminescence immunoassay and Simoa. Clin Chem Lab Med. 2016;54:1655-61.
41. Barro C, Chitnis T, Weiner HL. Blood neurofilament light: a critical review of its application to neurologic disease. Ann Clin Transl Neurol. 2020;7:2508-23.
42. Daponte A, Koros C, Skarlis C, et al. Neurofilament biomarkers in neurology: from neuroinflammation to neurodegeneration, bridging established and novel analytical advances with clinical practice. Int J Mol Sci. 2025;26:9739.
43. Petzold A. Proteolysis-based biomarker repertoire of the neurofilament proteome. J Neurochem. 2025;169:e70023.
44. Rudrabhatla P, Jaffe H, Pant HC. Direct evidence of phosphorylated neuronal intermediate filament proteins in neurofibrillary tangles (NFTs): phosphoproteomics of Alzheimer’s NFTs. FASEB J. 2011;25:3896-905.
45. Coulton JB, He Y, Barthélemy NR, Jiang H, Holtzman DM, Bateman RJ. Multi-peptide characterization of plasma neurofilament light chain in preclinical and mild Alzheimer’s disease. Brain Commun. 2024;6:fcae247.
46. Coppens S, Vialaret J, Mondésert E, et al. Development of a novel liquid chromatography coupled to multiple reaction monitoring (LC-MRM) assay for the quantification of neurofilament light chain in cerebrospinal fluid and comparison with ultra-sensitive immunoassay: a step toward standardization. Clin Chem. 2026;72:478-87.
47. Mondésert E, Schraen-Maschke S, Quadrio I, et al. A French multicenter analytical evaluation of the automated Lumipulse G sNfL blood assay (Fujirebio®) and its comparison to four other immunoassays for serum neurofilament light chain assessment in clinical settings. Clin Chim Acta. 2025;565:120007.
48. Bergström S, Remnestål J, Yousef J, et al. Multi-cohort profiling reveals elevated CSF levels of brain-enriched proteins in Alzheimer’s disease. Ann Clin Transl Neurol. 2021;8:1456-70.
49. Forgrave LM, Ma M, Best JR, DeMarco ML. The diagnostic performance of neurofilament light chain in CSF and blood for Alzheimer’s disease, frontotemporal dementia, and amyotrophic lateral sclerosis: a systematic review and meta-analysis. Alzheimers Dement. 2019;11:730-43.
50. Guo Y, Li S, Zeng LH, Tan J. Tau-targeting therapy in Alzheimer’s disease: critical advances and future opportunities. Ageing Neur Dis. 2022;2:11.
51. Putnam E, Katsoulos S, Ownby RL, Kesselman MM. Biomarkers in the early detection of dementia: a systematic review. Cureus. 2026;18:e106323.
52. Kusoro O, Roche M, Del-Pino-Casado R, Leung P, Orgeta V. Time to diagnosis in dementia: a systematic review with meta-analysis. Int J Geriatr Psychiatry. 2025;40:e70129.
53. Yarbro JM, Shrestha HK, Wang Z, et al. Proteomic landscape of Alzheimer’s disease: emerging technologies, advances and insights (2021-2025). Mol Neurodegener. 2025;20:83.
54. Preische O, Schultz SA, Apel A, et al.; Dominantly Inherited Alzheimer Network. Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease. Nat Med. 2019;25:277-83.
55. Quiroz YT, Zetterberg H, Reiman EM, et al. Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer’s disease kindred: a cross-sectional and longitudinal cohort study. Lancet Neurol. 2020;19:513-21.
56. Hawksworth J, Fernández E, Gevaert K. A new generation of AD biomarkers: 2019 to 2021. Ageing Res Rev. 2022;79:101654.
57. Jung Y, Damoiseaux JS. The potential of blood neurofilament light as a marker of neurodegeneration for Alzheimer’s disease. Brain. 2024;147:12-25.
58. Vrillon A, Ashton NJ, Karikari TK, et al. Comparison of CSF and plasma NfL and pNfH for Alzheimer’s disease diagnosis: a memory clinic study. J Neurol. 2024;271:1297-310.
59. Bäckström D, Linder J, Jakobson Mo S, et al. NfL as a biomarker for neurodegeneration and survival in Parkinson disease. Neurology. 2020;95:e827-38.
60. Angelopoulou E, Bougea A, Papadopoulos A, et al. CSF and circulating NfL as biomarkers for the discrimination of Parkinson disease from atypical parkinsonian syndromes: meta-analysis. Neurol Clin Pract. 2021;11:e867-75.
61. Quadalti C, Calandra-Buonaura G, Baiardi S, et al. Neurofilament light chain and α-synuclein RT-QuIC as differential diagnostic biomarkers in parkinsonisms and related syndromes. NPJ Parkinsons Dis. 2021;7:93.
62. Wang L, Zhang W, Liu F, et al. Association of cerebrospinal fluid neurofilament heavy protein levels with clinical progression in patients with Parkinson disease. JAMA Netw Open. 2022;5:e2223821.
63. Ygland Rödström E, Mattsson-Carlgren N, Janelidze S, Hansson O, Puschmann A. Serum neurofilament light chain as a marker of progression in Parkinson’s disease: long-term observation and implications of clinical subtypes. J Parkinsons Dis. 2022;12:571-84.
64. Thijssen EH, Verberk IMW, Kindermans J, et al. Differential diagnostic performance of a panel of plasma biomarkers for different types of dementia. Alzheimers Dement. 2022;14:e12285.
65. Baiardi S, Quadalti C, Mammana A, et al. Diagnostic value of plasma p-tau181, NfL, and GFAP in a clinical setting cohort of prevalent neurodegenerative dementias. Alzheimers Res Ther. 2022;14:153.
66. Dufty BM, Warner LR, Hou ST, et al. Calpain-cleavage of alpha-synuclein: connecting proteolytic processing to disease-linked aggregation. Am J Pathol. 2007;170:1725-38.
67. Ma M. Role of calpains in the injury-induced dysfunction and degeneration of the mammalian axon. Neurobiol Dis. 2013;60:61-79.
68. Rosen HJ, Boeve BF, Boxer AL. Tracking disease progression in familial and sporadic frontotemporal lobar degeneration: recent findings from ARTFL and LEFFTDS. Alzheimers Dement. 2020;16:71-8.
69. Guo W, Wang H, Kumar Tharkeshwar A, et al. CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity. Alzheimers Dement. 2023;19:1245-59.
70. Zetterberg H, Teunissen C, van Swieten J, et al. The role of neurofilament light in genetic frontotemporal lobar degeneration. Brain Commun. 2023;5:fcac310.
71. Giannini LAA, Seelaar H, van der Ende EL, et al. Clinical value of longitudinal serum neurofilament light chain in prodromal genetic frontotemporal dementia. Neurology. 2023;101:e1069-82.
72. Gendron TF, Heckman MG, White LJ, et al.; ALLFTD consortium. Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders. Cell Rep Med. 2022;3:100607.
73. Staffaroni AM, Quintana M, Wendelberger B, et al.; Frontotemporal Dementia Prevention Initiative (FPI) Investigators. Temporal order of clinical and biomarker changes in familial frontotemporal dementia. Nat Med. 2022;28:2194-206.
74. Byrne LM, Schultz JL, Rodrigues FB, et al. Neurofilament light protein as a potential blood biomarker for Huntington’s disease in children. Mov Disord. 2022;37:1526-31.
75. Byrne LM, Rodrigues FB, Blennow K, et al. Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington’s disease: a retrospective cohort analysis. Lancet Neurol. 2017;16:601-9.
76. Soylu-Kucharz R, Sandelius Å, Sjögren M, et al. Neurofilament light protein in CSF and blood is associated with neurodegeneration and disease severity in Huntington’s disease R6/2 mice. Sci Rep. 2017;7:14114.
77. Byrne LM, Rodrigues FB, Johnson EB, et al. Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington’s disease. Sci Transl Med. 2018;10:eaat7108.
78. Rodrigues FB, Byrne LM, Tortelli R, et al. Mutant huntingtin and neurofilament light have distinct longitudinal dynamics in Huntington’s disease. Sci Transl Med. 2020;12:eabc2888.
79. Johnson EB, Byrne LM, Gregory S, et al.; TRACK-HD Study Group. Neurofilament light protein in blood predicts regional atrophy in Huntington disease. Neurology. 2018;90:e717-23.
80. Vinther-Jensen T, Börnsen L, Budtz-Jørgensen E, et al. Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease. Neurol Neuroimmunol Neuroinflamm. 2016;3:e287.
81. He L, Zhou Q, Xiu C, et al. Circulating proteomic biomarkers for diagnosing sporadic amyotrophic lateral sclerosis: a cross-sectional study. Neural Regen Res. 2024;19:1842-8.
82. Irwin KE, Sheth U, Wong PC, Gendron TF. Fluid biomarkers for amyotrophic lateral sclerosis: a review. Mol Neurodegener. 2024;19:9.
83. Agah E, Mojtabavi H, Behkar A, et al. CSF and blood levels of Neurofilaments, T-Tau, P-Tau, and Abeta-42 in amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Transl Med. 2024;22:953.
84. Thomas EV, Han C, Kim WJ, et al. ALS plasma biomarkers reveal neurofilament and pTau correlate with disease onset and progression. Ann Clin Transl Neurol. 2025;12:714-23.
85. Davies JC, Dharmadasa T, Thompson AG, et al. Limited value of serum neurofilament light chain in diagnosing amyotrophic lateral sclerosis. Brain Commun. 2023;5:fcad163.
86. Obara K, Ito D, Nilsson C, et al. Diagnostic and prognostic value of blood and cerebrospinal fluid biomarkers in amyotrophic lateral sclerosis: a systematic review and meta-analysis. Eur J Neurol. 2025;32:e70382.
87. Miller TM, Cudkowicz ME, Genge A, et al. ; VALOR and OLE Working Group. Trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med. 2022;387:1099-110.
