Biomarkers in amyotrophic lateral sclerosis: current status and future prospects

Hardiman, O. et al. Amyotrophic lateral sclerosis. Nat. Rev. Dis. Prim. 3, 17071 (2017).

Article  PubMed  Google Scholar 

Zarei, S. et al. A comprehensive review of amyotrophic lateral sclerosis. Surg. Neurol. Int. 6, 171 (2015).

Article  PubMed  PubMed Central  Google Scholar 

Elamin, M. et al. Executive dysfunction is a negative prognostic indicator in patients with ALS without dementia. Neurology 76, 1263–1269 (2011).

Article  CAS  PubMed  Google Scholar 

Rusina, R., Vandenberghe, R. & Bruffaerts, R. Cognitive and behavioral manifestations in ALS: beyond motor system involvement. Diagnostics 11, 624 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Ling, S.-C., Polymenidou, M. & Cleveland, D. W. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron 79, 416–438 (2013).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Van Harten, A. C. M., Phatnani, H. & Przedborski, S. Non-cell-autonomous pathogenic mechanisms in amyotrophic lateral sclerosis. Trends Neurosci. 44, 658–668 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Ghasemi, M. & Brown, R. H. Genetics of amyotrophic lateral sclerosis. Cold Spring Harb. Perspect. Med. 8, a024125 (2018).

Article  PubMed  PubMed Central  Google Scholar 

Rooney, J., Burke, T., Vajda, A., Heverin, M. & Hardiman, O. What does the ALSFRS-R really measure? A longitudinal and survival analysis of functional dimension subscores in amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 88, 381–385 (2017).

Article  PubMed  Google Scholar 

Delaby, C. et al. Differential levels of neurofilament light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders. Sci. Rep. 10, 9161 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Heckler, I. & Venkataraman, I. Phosphorylated neurofilament heavy chain: a potential diagnostic biomarker in amyotrophic lateral sclerosis. J. Neurophysiol. 127, 737–745 (2022).

Article  PubMed  Google Scholar 

Bridel, C. et al. Diagnostic value of cerebrospinal fluid neurofilament light protein in neurology: a systematic review and meta-analysis. JAMA Neurol. 76, 1035–1048 (2019).

Article  PubMed  PubMed Central  Google Scholar 

Zucchi, E. et al. A motor neuron strategy to save time and energy in neurodegeneration: adaptive protein stoichiometry. J. Neurochem. 146, 631–641 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Manouchehrinia, A. et al. Confounding effect of blood volume and body mass index on blood neurofilament light chain levels. Ann. Clin. Transl. Neurol. 7, 139–143 (2020).

Article  PubMed  PubMed Central  Google Scholar 

Camu, W. et al. Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): a phase 2a randomised, double-blind, placebo-controlled trial. EBioMedicine 59, 102844 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lu, C.-H. et al. Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study. J. Neurol. Neurosurg. Psychiatry 86, 565–573 (2015).

Article  PubMed  Google Scholar 

Mullard, A. NfL makes regulatory debut as neurodegenerative disease biomarker. Nat. Rev. Drug Discov. 22, 431–434 (2023).

Article  CAS  PubMed  Google Scholar 

Miller, T. M. et al. Trial of antisense oligonucleotide tofersen for SOD1 ALS. N. Engl. J. Med. 387, 1099–1110 (2022).

Article  CAS  PubMed  Google Scholar 

Verde, F., Otto, M. & Silani, V. Neurofilament light chain as biomarker for amyotrophic lateral sclerosis and frontotemporal dementia. Front. Neurosci. 15, 679199 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Forgrave, L. M., Ma, M., Best, J. R. & DeMarco, M. L. 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. 11, 730–743 (2019).

Google Scholar 

Meyer, T. et al. Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: treatment experience in clinical practice. Muscle Nerve 67, 515–521 (2023).

Article  CAS  PubMed  Google Scholar 

Paganoni, S. et al. Trial of sodium phenylbutyrate–taurursodiol for amyotrophic lateral sclerosis. N. Engl. J. Med. 383, 919–930 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

[No authors listed]. MIROCALS Consortium Announces Top-line Results of European Trial of Low Dose Interleukin 2 in Amyotrophic Lateral Sclerosis at 33rd International Symposium on ALS/MND https://www.mndassociation.org/sites/default/files/2022-12/Final-MIROCALS-press-release-08122022.pdf (2022).

Brown, A.-L. et al. TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature 603, 131–137 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Akiyama, T., Koike, Y., Petrucelli, L. & Gitler, A. D. Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: towards therapeutic targets and biomarkers. Clin. Transl. Med. 12, e818 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mehta, P. R., Brown, A.-L., Ward, M. E. & Fratta, P. The era of cryptic exons: implications for ALS-FTD. Mol. Neurodegener. 18, 16 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Klim, J. R. et al. ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair. Nat. Neurosci. 22, 167–179 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vu, L. et al. Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes. J. Neurol. Neurosurg. Psychiatry 91, 350–358 (2020).

Article  PubMed  Google Scholar 

Shepheard, S. R. et al. Urinary neopterin: a novel biomarker of disease progression in amyotrophic lateral sclerosis. Eur. J. Neurol. 29, 990–999 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Yazdani, S. et al. T cell responses at diagnosis of amyotrophic lateral sclerosis predict disease progression. Nat. Commun. 13, 6733 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu, H. et al. Systematic review and meta-analysis on microRNAs in amyotrophic lateral sclerosis. Brain Res. Bull. 194, 82–89 (2023).

Article  CAS  PubMed  Google Scholar 

Magen, I. et al. Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosis. Nat. Neurosci. 24, 1534–1541 (2021).

Article  CAS  PubMed  Google Scholar 

Lange, D. J. et al. Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations. Ann. Neurol. 81, 837–848 (2017).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schmitz, A., Pinheiro Marques, J., Oertig, I., Maharjan, N. & Saxena, S. Emerging perspectives on dipeptide repeat proteins in C9ORF72 ALS/FTD. Front. Cell Neurosci. 15, 637548 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shi, Y. et al. Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nat. Med. 24, 313–325 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sellier, C. et al. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death. EMBO J. 35, 1276–1297 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fu, R.-H. et al. C9-ALS-associated proline-arginine dipeptide repeat protein induces activation of NLRP3 inflammasome of HMC3 microglia cells by binding of complement component 1 Q subcomponent-binding protein (C1QBP), and syringin prevents this effect. Cells 11, 3128 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gendron, T. F. et al. Phosphorylated neurofilament heavy chain: a biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. Ann. Neurol. 82, 139–146 (2017).

Article  CAS  PubMed  PubMed Central 

留言 (0)

沒有登入
gif