{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T23:57:14Z","timestamp":1784246234314,"version":"3.55.0"},"reference-count":153,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,24]],"date-time":"2021-08-24T00:00:00Z","timestamp":1629763200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Cerebrospinal fluid (CSF) diagnostics has emerged as a valid tool for a variety of neurological diseases. However, CSF diagnostics has been playing a subordinate role in the diagnosis of many neurological conditions. Thus, in the multitude of neuromuscular diseases in which motor neurons are affected, a CSF sample is rarely taken routinely. However, CSF diagnostics has the potential to specify the diagnosis and monitor the treatment of neuromuscular disorders. In this review, we therefore focused on a variety of neuromuscular diseases, among them amyotrophic lateral sclerosis (ALS), peripheral neuropathies, and spinal muscular atrophy (SMA), for which CSF diagnostics has emerged as a promising option for determining the disease itself and its progression. We focus on potentially valuable biomarkers among different disorders, such as neurofilaments, cytokines, other proteins, and lipids to determine their suitability, differentiating between different neurological disorders and their potential to determine early disease onset, disease progression, and treatment outcome. We further recommend novel approaches, e.g., the use of mass spectrometry as a promising alternative techniques to standard ELISA assays, potentially enhancing biomarker significance in clinical applications.<\/jats:p>","DOI":"10.3390\/diagnostics11091522","type":"journal-article","created":{"date-parts":[[2021,8,24]],"date-time":"2021-08-24T22:12:22Z","timestamp":1629843142000},"page":"1522","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["CSF Diagnostics: A Potentially Valuable Tool in Neurodegenerative and Inflammatory Disorders Involving Motor Neurons: A Review"],"prefix":"10.3390","volume":"11","author":[{"given":"Karsten","family":"Krause","sequence":"first","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Wulf","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum, 44801 Bochum, Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Sommer","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum, 44801 Bochum, Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2554-8796","authenticated-orcid":false,"given":"Katalin","family":"Barkovits","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum, 44801 Bochum, Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1782-4642","authenticated-orcid":false,"given":"Matthias","family":"Vorgerd","sequence":"additional","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3313-8845","authenticated-orcid":false,"given":"Katrin","family":"Marcus","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum, 44801 Bochum, Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6553-4631","authenticated-orcid":false,"given":"Britta","family":"Eggers","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum, 44801 Bochum, Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/B978-0-12-804279-3.00012-5","article-title":"CSF in acute and chronic infectious diseases","volume":"146","author":"Benninger","year":"2017","journal-title":"Handbook of Clinical Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s40265-013-0007-5","article-title":"Acute Viral Infections of the Central Nervous System in Immunocompetent Adults: Diagnosis and Management","volume":"73","author":"Studahl","year":"2013","journal-title":"Drugs"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"29103","DOI":"10.3390\/ijms161226150","article-title":"Tumor-Associated CSF MicroRNAs for the Prediction and Evaluation of CNS Malignancies","volume":"16","author":"Shalaby","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"45","DOI":"10.3389\/fcell.2020.00045","article-title":"Beyond the Blood: CSF-Derived cfDNA for Diagnosis and Characterization of CNS Tumors","volume":"8","author":"McEwen","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.neulet.2007.03.064","article-title":"Longitudinal stability of CSF biomarkers in Alzheimer\u2019s disease","volume":"419","author":"Blennow","year":"2007","journal-title":"Neurosci. Lett."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Buchhave, P., Blennow, K., Zetterberg, H., Stomrud, E., Londos, E., Andreasen, N., Minthon, L., and Hansson, O. (2009). Longitudinal Study of CSF Biomarkers in Patients with Alzheimer\u2019s Disease. PLoS ONE, 4.","DOI":"10.1371\/journal.pone.0006294"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Brinkmalm, G., Sj\u00f6din, S., Simonsen, A.H., Hasselbalch, S.G., Zetterberg, H., Brinkmalm, A., and Blennow, K. (2017). A Parallel Reaction Monitoring Mass Spectrometric Method for Analysis of Potential CSF Biomarkers for Alzheimer\u2019s Disease. Proteom. Clin. Appl., 12.","DOI":"10.1002\/prca.201700131"},{"key":"ref_8","first-page":"606802","article-title":"CSF Biomarkers for Alzheimer\u2019s Disease Diagnosis","volume":"2010","author":"Anoop","year":"2010","journal-title":"Int. J. Alzheimer\u2019s Dis."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/S1474-4422(16)00070-3","article-title":"CSF and blood biomarkers for the diagnosis of Alzheimer\u2019s disease: A systematic review and meta-analysis","volume":"15","author":"Olsson","year":"2016","journal-title":"Lancet Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1080\/14737159.2017.1341312","article-title":"Discovery, validation and optimization of cerebrospinal fluid biomarkers for use in Parkinson\u2019s disease","volume":"17","author":"Farotti","year":"2017","journal-title":"Expert Rev. Mol. Diagn."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/mds.27232","article-title":"Cerebrospinal fluid, plasma, and saliva in the BioFIND study: Relationships among biomarkers and Parkinson\u2019s disease Features","volume":"33","author":"Goldman","year":"2017","journal-title":"Mov. Disord."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Katayama, T., Sawada, J., Takahashi, K., and Yahara, O. (2020). Cerebrospinal Fluid Biomarkers in Parkinson\u2019s Disease: A Critical Overview of the Literature and Meta-Analyses. Brain Sci., 10.","DOI":"10.3390\/brainsci10070466"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1212\/WNL.0000000000004609","article-title":"Longitudinal CSF biomarkers in patients with early Parkinson disease and healthy controls","volume":"89","author":"Mollenhauer","year":"2017","journal-title":"Neurology"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S1474-4422(19)30024-9","article-title":"CSF and blood biomarkers for Parkinson\u2019s disease","volume":"18","author":"Parnetti","year":"2019","journal-title":"Lancet Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/jnc.13881","article-title":"Cerebrospinal fluid biomarkers as a measure of disease activity and treatment efficacy in relapsing-remitting multiple sclerosis","volume":"141","author":"Novakova","year":"2016","journal-title":"J. Neurochem."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1080\/1744666X.2017.1400380","article-title":"The role of blood and CSF biomarkers in the evaluation of new treatments against multiple sclerosis","volume":"13","author":"Lycke","year":"2017","journal-title":"Expert Rev. Clin. Immunol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1177\/1352458516674566","article-title":"CSF \u03b2-amyloid as a putative biomarker of disease progression in multiple sclerosis","volume":"23","author":"Pietroboni","year":"2016","journal-title":"Mult. Scler. J."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.msard.2018.11.032","article-title":"Cerebrospinal fluid biomarkers link toxic astrogliosis and microglial activation to multiple sclerosis severity","volume":"28","author":"Masvekar","year":"2018","journal-title":"Mult. Scler. Relat. Disord."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"102391","DOI":"10.1016\/j.msard.2020.102391","article-title":"Multiplex assessment of cerebrospinal fluid biomarkers in multiple sclerosis","volume":"45","author":"Mahler","year":"2020","journal-title":"Mult. Scler. Relat. Disord."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1177\/1352458519871818","article-title":"Can CSF biomarkers predict future MS disease activity and severity?","volume":"26","author":"Magliozzi","year":"2020","journal-title":"Mult. Scler. J."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"a024125","DOI":"10.1101\/cshperspect.a024125","article-title":"Genetics of Amyotrophic Lateral Sclerosis","volume":"8","author":"Ghasemi","year":"2017","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1016\/S0140-6736(10)61156-7","article-title":"Amyotrophic lateral sclerosis","volume":"377","author":"Kiernan","year":"2011","journal-title":"Lancet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1038\/nrneurol.2016.111","article-title":"Supportive and symptomatic management of amyotrophic lateral sclerosis","volume":"12","author":"Hobson","year":"2016","journal-title":"Nat. Rev. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/0022-510X(94)90191-0","article-title":"El escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis","volume":"124","author":"Brooks","year":"1994","journal-title":"J. Neurol. Sci."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0022-510X(99)00210-5","article-title":"The ALSFRS-R: A revised ALS functional rating scale that incorporates assessments of respiratory function","volume":"169","author":"Cedarbaum","year":"1999","journal-title":"J. Neurol. Sci."},{"key":"ref_26","unstructured":"Ropper, A.H., Samuels, M.A., Klein, J.P., and Prasad, S. (2019). Adams and Victor\u2019s Principles of Neurology, McGraw-Hill. [11th ed.]."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-020-80370-6","article-title":"Combination of serum and CSF neurofilament-light and neuroinflammatory biomarkers to evaluate ALS","volume":"11","author":"Brodovitch","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"404","DOI":"10.3109\/21678421.2016.1167913","article-title":"Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS","volume":"17","author":"Oeckl","year":"2016","journal-title":"Amyotroph. Lateral Scler. Front. Degener."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"2302","DOI":"10.1212\/WNL.0000000000004029","article-title":"Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease","volume":"88","author":"Poesen","year":"2017","journal-title":"Neurology"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.jns.2014.07.059","article-title":"Increased proinflammatory cytokines in sera of patients with multifocal motor neuropathy","volume":"346","author":"Furukawa","year":"2014","journal-title":"J. Neurol. Sci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"140","DOI":"10.3109\/17482968.2010.541263","article-title":"Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: Specificity, sensitivity, and a possible prognostic value","volume":"12","author":"Noto","year":"2010","journal-title":"Amyotroph. Lateral Scler."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/s00401-008-0456-1","article-title":"Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis","volume":"117","author":"Kasai","year":"2008","journal-title":"Acta Neuropathol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"344","DOI":"10.3109\/00207454.2013.848440","article-title":"Differential diagnosis of amyotrophic lateral sclerosis from Guillain\u2013Barr\u00e9 syndrome by quantitative determination of TDP-43 in cerebrospinal fluid","volume":"124","author":"Hosokawa","year":"2013","journal-title":"Int. J. Neurosci."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"351","DOI":"10.3109\/21678421.2014.905606","article-title":"Limited role of free TDP-43 as a diagnostic tool in neurodegenerative diseases","volume":"15","author":"Feneberg","year":"2014","journal-title":"Amyotroph. Lateral Scler. Front. Degener."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1001\/archneur.65.11.1481","article-title":"TDP-43 in Cerebrospinal Fluid of Patients With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis","volume":"65","author":"Steinacker","year":"2008","journal-title":"Arch. Neurol."},{"key":"ref_36","first-page":"12","article-title":"Neurofilaments in the diagnosis of motoneuron diseases: A prospective study on 455 patients","volume":"87","author":"Steinacker","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.jneuroim.2010.03.004","article-title":"CSF chemokine alterations related to the clinical course of amyotrophic lateral sclerosis","volume":"222","author":"Tateishi","year":"2010","journal-title":"J. Neuroimmunol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1212\/01.wnl.0000333251.36681.a5","article-title":"A CSF biomarker panel for identification of patients with amyotrophic lateral sclerosis","volume":"72","author":"Mitchell","year":"2008","journal-title":"Neurology"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1186\/1742-2094-11-94","article-title":"Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis","volume":"11","author":"Italiani","year":"2014","journal-title":"J. Neuroinflammation"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-020-66090-x","article-title":"Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders","volume":"10","author":"Delaby","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1007\/s00415-017-8730-6","article-title":"CSF neurofilament proteins as diagnostic and prognostic biomarkers for amyotrophic lateral sclerosis","volume":"265","author":"Rossi","year":"2018","journal-title":"J. Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1001\/jamaneurol.2018.3746","article-title":"Association of Cerebrospinal Fluid Neurofilament Light Protein Levels With Cognition in Patients With Dementia, Motor Neuron Disease, and Movement Disorders","volume":"76","author":"Olsson","year":"2019","journal-title":"JAMA Neurol."},{"key":"ref_43","first-page":"367","article-title":"Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis","volume":"89","author":"Jeromin","year":"2017","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"12952","DOI":"10.1073\/pnas.1912839117","article-title":"Inflammation-related plasma and CSF biomarkers for multiple sclerosis","volume":"117","author":"Huang","year":"2020","journal-title":"Proc. Natl. Acad. Sci."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1089\/107999099314234","article-title":"Human Endothelium as a Source of Multifunctional Cytokines: Molecular Regulation and Possible Role in Human Disease","volume":"19","author":"Krishnaswamy","year":"1999","journal-title":"J. Interf. Cytokine Res."},{"key":"ref_46","first-page":"620","article-title":"Mast Cell: A Multi-Functional Master Cell","volume":"6","author":"Dileepan","year":"2016","journal-title":"Front. Immunol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1016\/j.neurobiolaging.2007.04.013","article-title":"Neocortical glial cell numbers in human brains","volume":"29","author":"Pelvig","year":"2008","journal-title":"Neurobiol. Aging"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/glia.10161","article-title":"Microglia as a source and target of cytokines","volume":"40","author":"Hanisch","year":"2002","journal-title":"Glia"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s11481-009-9171-5","article-title":"Microglia in ALS: The Good, The Bad, and The Resting","volume":"4","author":"Henkel","year":"2009","journal-title":"J. Neuroimmune Pharmacol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"S39","DOI":"10.1016\/S1353-8020(09)70011-2","article-title":"Neuroprotective and toxic changes in microglia in neurodegenerative disease","volume":"15","author":"Sawada","year":"2009","journal-title":"Park. Relat. Disord."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1001\/archneur.1993.00540010026013","article-title":"Lymphocytic Infiltrates in the Spinal Cord in Amyotrophic Lateral Sclerosis","volume":"50","author":"Engelhardt","year":"1993","journal-title":"Arch. Neurol."},{"key":"ref_52","first-page":"213","article-title":"Inflammation in amyotrophic lateral sclerosis spinal cord and brain is mediated by activated macrophages, mast cells and T cells","volume":"5","author":"Graves","year":"2004","journal-title":"Amyotroph. Lateral Scler."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/ana.10805","article-title":"Presence of dendritic cells, MCP-1, and activated microglia\/macrophages in amyotrophic lateral sclerosis spinal cord tissue","volume":"55","author":"Henkel","year":"2003","journal-title":"Ann. Neurol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1212\/WNL.57.7.1282","article-title":"Immune reactivity in a mouse model of familial ALS correlates with disease progression","volume":"57","author":"Alexianu","year":"2001","journal-title":"Neurology"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.imbio.2008.11.005","article-title":"Cytokine secretion in macrophages and other cells: Pathways and mediators","volume":"214","author":"Stow","year":"2009","journal-title":"Immunobiology"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/glia.20062","article-title":"Increased cytotoxic potential of microglia from ALS-transgenic mice","volume":"48","author":"Weydt","year":"2004","journal-title":"Glia"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1111\/j.1471-4159.2007.04677.x","article-title":"Mutant SOD1G93Amicroglia are more neurotoxic relative to wild-type microglia","volume":"102","author":"Xiao","year":"2007","journal-title":"J. Neurochem."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1046\/j.0022-3042.2001.00683.x","article-title":"Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis","volume":"80","author":"Yoshihara","year":"2002","journal-title":"J. Neurochem."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1212\/01.wnl.0000188907.97339.76","article-title":"Elevated IL-6 and TNF- levels in patients with ALS: Inflammation or hypoxia?","volume":"65","author":"Moreau","year":"2005","journal-title":"Neurology"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1097\/01.jnen.0000232025.84238.e1","article-title":"Intrathecal Upregulation of Granulocyte Colony Stimulating Factor and Its Neuroprotective Actions on Motor Neurons in Amyotrophic Lateral Sclerosis","volume":"65","author":"Tanaka","year":"2006","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1212\/WNL.58.8.1277","article-title":"Increased levels of the pro-inflammatory prostaglandin PGE2 in CSF from ALS patients","volume":"58","author":"Almer","year":"2002","journal-title":"Neurology"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.brainres.2012.05.056","article-title":"Impaired blood\u2013brain\/spinal cord barrier in ALS patients","volume":"1469","author":"Rodrigues","year":"2012","journal-title":"Brain Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"e1205","DOI":"10.1371\/journal.pone.0001205","article-title":"Evidence of Compromised Blood-Spinal Cord Barrier in Early and Late Symptomatic SOD1 Mice Modeling ALS","volume":"2","author":"Saporta","year":"2007","journal-title":"PLoS ONE"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1007\/s10072-020-04292-x","article-title":"Elevated cerebrospinal fluid homocysteine is associated with blood-brain barrier disruption in amyotrophic lateral sclerosis patients","volume":"41","author":"Wu","year":"2020","journal-title":"Neurol. Sci."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1001\/archneur.57.1.109","article-title":"Amyotrophic Lateral Sclerosis Mimic Syndromes","volume":"57","author":"Traynor","year":"2000","journal-title":"Arch. Neurol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/mus.23930","article-title":"Are multifocal motor neuropathy patients underdiagnosed? An epidemiological survey in Japan","volume":"49","author":"Miyashiro","year":"2013","journal-title":"Muscle Nerve"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1684\/ecn.2019.0436","article-title":"IL-8 as a potential biomarker in Guillain-Barre Syndrome","volume":"30","author":"Breville","year":"2019","journal-title":"Eur. Cytokine Netw."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.cyto.2010.05.005","article-title":"The expression pattern of inflammatory mediators in cerebrospinal fluid differentiates Guillain\u2013Barr\u00e9 syndrome from chronic inflammatory demyelinating polyneuropathy","volume":"51","author":"Sainaghi","year":"2010","journal-title":"Cytokine"},{"key":"ref_69","first-page":"1","article-title":"Cerebrospinal fluid cytokines in Lyme neuroborreliosis","volume":"13","author":"Maksimow","year":"2016","journal-title":"J. Neuroinflammation"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1093\/emboj\/20.7.1774","article-title":"Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping","volume":"20","author":"Buratti","year":"2001","journal-title":"EMBO J."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.neuron.2013.07.033","article-title":"Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis","volume":"79","author":"Ling","year":"2013","journal-title":"Neuron"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"3584","DOI":"10.1128\/jvi.69.6.3584-3596.1995","article-title":"Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs","volume":"69","author":"Ou","year":"1995","journal-title":"J. Virol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1111\/j.1471-4159.2009.06383.x","article-title":"TDP-43 is recruited to stress granules in conditions of oxidative insult","volume":"111","author":"Colombrita","year":"2009","journal-title":"J. Neurochem."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s00401-008-0477-9","article-title":"Phosphorylation of S409\/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies","volume":"117","author":"Neumann","year":"2009","journal-title":"Acta Neuropathol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1126\/science.1154584","article-title":"TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis","volume":"319","author":"Sreedharan","year":"2008","journal-title":"Science"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"25","DOI":"10.3389\/fnmol.2019.00025","article-title":"Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis","volume":"12","author":"Prasad","year":"2019","journal-title":"Front. Mol. Neurosci."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/nature10353","article-title":"Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS\/dementia","volume":"477","author":"Deng","year":"2011","journal-title":"Nature"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","article-title":"Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis","volume":"362","author":"Rosen","year":"1993","journal-title":"Nature"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS","volume":"72","author":"Mackenzie","year":"2011","journal-title":"Neuron"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nature08971","article-title":"Mutations of optineurin in amyotrophic lateral sclerosis","volume":"465","author":"Maruyama","year":"2010","journal-title":"Nature"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","article-title":"Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS","volume":"68","author":"Johnson","year":"2010","journal-title":"Neuron"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/nature11280","article-title":"Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis","volume":"488","author":"Wu","year":"2012","journal-title":"Nature"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.brainres.2007.09.048","article-title":"Concurrence of TDP-43, tau and \u03b1-synuclein pathology in brains of Alzheimer\u2019s disease and dementia with Lewy bodies","volume":"1184","author":"Higashi","year":"2007","journal-title":"Brain Res."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00401-007-0261-2","article-title":"Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases","volume":"114","author":"Uryu","year":"2007","journal-title":"Acta Neuropathol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1097\/NEN.0b013e31818e8951","article-title":"Colocalization of Transactivation-Responsive DNA-Binding Protein 43 and Huntingtin in Inclusions of Huntington Disease","volume":"67","author":"Schwab","year":"2008","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"7789","DOI":"10.1007\/s12035-018-0947-6","article-title":"Towards a TDP-43-Based Biomarker for ALS and FTLD","volume":"55","author":"Feneberg","year":"2018","journal-title":"Mol. Neurobiol."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/0006-8993(83)91065-X","article-title":"The relationship between axon diameter, myelin thickness and conduction velocity during atrophy of mammalian peripheral nerves","volume":"259","author":"Gillespie","year":"1983","journal-title":"Brain Res."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"551","DOI":"10.3233\/JAD-180409","article-title":"Cerebrospinal Fluid Biomarkers in Patients with Frontotemporal Dementia Spectrum: A Single-Center Study","volume":"66","author":"Mometto","year":"2018","journal-title":"J. Alzheimer\u2019s Dis."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1080\/21678421.2017.1281962","article-title":"Cerebrospinal fluid neurofilament light concentration in motor neuron disease and frontotemporal dementia predicts survival","volume":"18","author":"Blennow","year":"2017","journal-title":"Amyotroph. Lateral Scler. Front. Degener."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1212\/WNL.0000000000001015","article-title":"CSF neurofilament light differs in neurodegenerative diseases and predicts severity and survival","volume":"83","author":"Farahmand","year":"2014","journal-title":"Neurology"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1080\/21678421.2019.1587634","article-title":"Defining pre-symptomatic amyotrophic lateral sclerosis","volume":"20","author":"Benatar","year":"2019","journal-title":"Amyotroph. Lateral Scler. Front. Degener."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1136\/jnnp-2012-303768","article-title":"Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis","volume":"84","author":"Boylan","year":"2012","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_93","first-page":"e22","article-title":"Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis","volume":"90","author":"Feneberg","year":"2017","journal-title":"Neurology"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1159\/000488681","article-title":"Neurofilament Subunit L Levels in the Cerebrospinal Fluid and Serum of Patients with Amyotrophic Lateral Sclerosis","volume":"18","author":"Gong","year":"2018","journal-title":"Neurodegener. Dis."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1212\/WNL.0000000000001642","article-title":"Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis","volume":"84","author":"Lu","year":"2015","journal-title":"Neurology"},{"key":"ref_96","doi-asserted-by":"crossref","unstructured":"Sun, Q., Zhao, X., Li, S., Yang, F., Wang, H., Cui, F., and Huang, X. (2020). CSF Neurofilament Light Chain Elevation Predicts ALS Severity and Progression. Front. Neurol., 11.","DOI":"10.3389\/fneur.2020.00919"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1002\/ana.410440512","article-title":"The Plasma Exchange\/Sandoglobulin Guillain-Barr\u00e9 Syndrome Trial Group Electrophysiological classification of guillain-barr\u00e9 syndrome: Clinical associations and outcome","volume":"44","author":"Hadden","year":"1998","journal-title":"Ann. Neurol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0140-6736(78)92644-2","article-title":"Controlled trial of prednisolone in acute polyneuropathy","volume":"312","author":"Hughes","year":"1978","journal-title":"Lancet"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1002\/mus.880141111","article-title":"Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain-Barr\u00e9 syndrome","volume":"14","author":"Kleyweg","year":"1991","journal-title":"Muscle Nerve"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1136\/jnnp.2005.076174","article-title":"Getting closer to patients: The INCAT Overall Disability Sum Score relates better to patients\u2019 own clinical judgement in immune-mediated polyneuropathies","volume":"77","author":"Merkies","year":"2006","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1212\/01.wnl.0000237334.69665.92","article-title":"CSF neurofilament levels: A potential prognostic marker in Guillain-Barre syndrome","volume":"67","author":"Petzold","year":"2006","journal-title":"Neurology"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/mus.21239","article-title":"CSF protein biomarkers for proximal axonal damage improve prognostic accuracy in the acute phase of Guillain-Barr\u00e9 syndrome","volume":"40","author":"Petzold","year":"2009","journal-title":"Muscle Nerve"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1007\/s10072-012-1092-z","article-title":"Elevated levels of S100B, tau and pNFH in cerebrospinal fluid are correlated with subtypes of Guillain\u2013Barr\u00e9 syndrome","volume":"34","author":"Wang","year":"2012","journal-title":"Neurol. Sci."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/mus.23752","article-title":"Serial cerebrospinal fluid neurofilament heavy chain levels in severe Guillain-Barr\u00e9 syndrome","volume":"48","author":"Dujmovic","year":"2012","journal-title":"Muscle Nerve"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/ane.12927","article-title":"Neurofilament light protein levels in cerebrospinal fluid predict long-term disability of Guillain-Barr\u00e9 syndrome: A pilot study","volume":"138","author":"Axelsson","year":"2018","journal-title":"Acta Neurol. Scand."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1111\/jns.12279","article-title":"Serum and cerebrospinal neurofilament light chain levels in patients with acquired peripheral neuropathies","volume":"23","author":"Mariotto","year":"2018","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1002\/acn3.51207","article-title":"Ratio and index of Neurofilament light chain indicate its origin in Guillain-Barr\u00e9 Syndrome","volume":"7","author":"Kuhle","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_108","unstructured":"Voet, D., Voet, J.G., and Pratt, C.W. (2008). Principles of Biochemistry, Wiley. [3rd. ed.]. International Student Version."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-017-08314-1","article-title":"Sphingomyelin as a myelin biomarker in CSF of acquired demyelinating neuropathies","volume":"7","author":"Capodivento","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jnnp-2020-324445","article-title":"CSF sphingomyelin: A new biomarker of demyelination in the diagnosis and management of CIDP and GBS","volume":"92","author":"Capodivento","year":"2020","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_111","first-page":"1","article-title":"Cerebrospinal fluid lipidomic biomarker signatures of demyelination for multiple sclerosis and Guillain\u2013Barr\u00e9 syndrome","volume":"10","author":"Balogh","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1258\/0004563021901847","article-title":"Cystatin C","volume":"39","author":"Newman","year":"2002","journal-title":"Ann. Clin. Biochem. Int. J. Lab. Med."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1111\/j.1523-1755.2004.00517.x","article-title":"Factors influencing serum cystatin C levels other than renal function and the impact on renal function measurement","volume":"65","author":"Knight","year":"2004","journal-title":"Kidney Int."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1007\/s11033-008-9228-1","article-title":"Alteration of cystatin C levels in cerebrospinal fluid of patients with Guillain-Barr\u00e9 Syndrome by a proteomical approach","volume":"36","author":"Yang","year":"2008","journal-title":"Mol. Biol. Rep."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1007\/s10571-007-9257-7","article-title":"Comparative Proteomics Analysis of Cerebrospinal Fluid of Patients with Guillain\u2013Barr\u00e9 Syndrome","volume":"28","author":"Yang","year":"2008","journal-title":"Cell. Mol. Neurobiol."},{"key":"ref_116","first-page":"5177","article-title":"Identification of CSF biomarkers by proteomicsin Guillain-Barr\u00ef\u00bf\u00bdsyndrome","volume":"15","author":"Li","year":"2018","journal-title":"Exp. Ther. Med."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"44","DOI":"10.3109\/13506129609014354","article-title":"Transthyretin amyloidosis","volume":"3","author":"Benson","year":"1996","journal-title":"Amyloid"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1111\/j.1468-1331.2007.01761.x","article-title":"Proteomic identification of potential protein markers in cerebrospinal fluid of GBS patients","volume":"14","author":"Jin","year":"2007","journal-title":"Eur. J. Neurol."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.cca.2009.04.022","article-title":"Analyses of transthyretin concentration in the cerebrospinal fluid of patients with Guillain-Barr\u00e9 syndrome and other neurological disorders","volume":"405","author":"Chiang","year":"2009","journal-title":"Clin. Chim. Acta"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1111\/j.1600-0404.2011.01511.x","article-title":"Altered cerebrospinal fluid index of prealbumin, fibrinogen, and haptoglobin in patients with Guillain-Barr\u00e9 syndrome and chronic inflammatory demyelinating polyneuropathy","volume":"125","author":"Zhang","year":"2011","journal-title":"Acta Neurol. Scand."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1002\/prca.200600949","article-title":"Elevated haptoglobin level of cerebrospinal fluid in Guillain-Barr\u00e9 syndrome revealed by proteomics analysis","volume":"1","author":"Chang","year":"2007","journal-title":"Proteom. Clin. Appl."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.jneuroim.2007.01.022","article-title":"Proteome analysis of cerebrospinal fluid in Guillain\u2013Barr\u00e9 syndrome (GBS)","volume":"185","author":"Lehmensiek","year":"2007","journal-title":"J. Neuroimmunol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"2383","DOI":"10.1002\/1873-3468.13108","article-title":"Tau filaments in neurodegenerative diseases","volume":"592","author":"Goedert","year":"2018","journal-title":"FEBS Lett."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0304-3940(01)01556-7","article-title":"Tau protein in cerebrospinal fluid (CSF): A blood\u2013CSF barrier related evaluation in patients with various neurological diseases","volume":"300","author":"Reiber","year":"2001","journal-title":"Neurosci. Lett."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1212\/01.wnl.0000240119.29939.c7","article-title":"CSF tau protein: A new prognostic marker for Guillain-Barre syndrome","volume":"67","author":"Jin","year":"2006","journal-title":"Neurology"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1212\/01.wnl.0000269672.17807.e0","article-title":"Relevance of the antibody index to diagnose Lyme neuroborreliosis among seropositive patients","volume":"69","author":"Blanc","year":"2007","journal-title":"Neurology"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1750-1172-6-71","article-title":"Spinal muscular atrophy","volume":"6","author":"Mercuri","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.2353\/ajpath.2007.070399","article-title":"Refined Characterization of the Expression and Stability of the SMN Gene Products","volume":"171","author":"Vitte","year":"2007","journal-title":"Am. J. Pathol."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy","volume":"70","author":"Schwarzer","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: Diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_131","doi-asserted-by":"crossref","unstructured":"Singh, R.N., Ottesen, E.W., and Singh, N.N. (2020). The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy. Neurosci. Insights, 15.","DOI":"10.1177\/2633105520973985"},{"key":"ref_132","doi-asserted-by":"crossref","unstructured":"Messina, S., and Sframeli, M. (2020). New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges. J. Clin. Med., 9.","DOI":"10.3390\/jcm9072222"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1515\/cclm-2015-0253","article-title":"Upper reference limits for cerebrospinal fluid total protein and albumin quotient based on a large cohort of control patients: Implications for increased clinical specificity","volume":"54","author":"Hegen","year":"2016","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1111\/jnc.14953","article-title":"Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy","volume":"153","author":"Kessler","year":"2020","journal-title":"J. Neurochem."},{"key":"ref_135","doi-asserted-by":"crossref","unstructured":"M\u00fcschen, L., Osmanovic, A., Binz, C., Jendretzky, K., Ranxha, G., Bronzlik, P., Abu-Fares, O., Wiehler, F., M\u00f6hn, N., and H\u00fcmmert, M. (2021). Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients. Brain Sci., 11.","DOI":"10.3390\/brainsci11030296"},{"key":"ref_136","doi-asserted-by":"crossref","unstructured":"Wurster, C.D., Koch, J.C., Cordts, I., Dreyhaupt, J., Otto, M., Uzelac, Z., Witzel, S., Winter, B., Kocak, T., and Schocke, M. (2019). Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen. Front. Neurol., 10.","DOI":"10.3389\/fneur.2019.01179"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.1373\/clinchem.2017.278267","article-title":"Cerebrospinal Fluid Total Protein Reference Intervals Derived from 20 Years of Patient Data","volume":"63","author":"McCudden","year":"2017","journal-title":"Clin. Chem."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"735","DOI":"10.3389\/fneur.2019.00735","article-title":"Routine Cerebrospinal Fluid Cytology Reveals Unique Inclusions in Macrophages During Treatment With Nusinersen","volume":"10","author":"Gingele","year":"2019","journal-title":"Front. Neurol."},{"key":"ref_139","doi-asserted-by":"crossref","unstructured":"Machacek, M.E., Gogakos, T., Fletcher, M.C., Lunderville, K.A., Swoboda, K.J., and Sohani, A.R. (2020). Unusual inclusions in cerebrospinal fluid macrophages of spinal muscular atrophy patients treated with nusinersen. Int. J. Lab. Hematol.","DOI":"10.1111\/ijlh.13392"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"4560","DOI":"10.2174\/1381612825666191210154535","article-title":"Neurofilament Proteins as Prognostic Biomarkers in Neurological Disorders","volume":"25","author":"Lee","year":"2020","journal-title":"Curr. Pharm. Des."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-018-33158-8","article-title":"Serum GFAP as a biomarker for disease severity in multiple sclerosis","volume":"8","author":"Abdelhak","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_142","first-page":"249","article-title":"High performance plasma amyloid-\u03b2 biomarkers for Alzheimer\u2019s disease","volume":"554","author":"Nakamura","year":"2018","journal-title":"Nat. Cell Biol."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/978-981-32-9358-8_29","article-title":"Cerebrospinal Fluid and Plasma Tau as a Biomarker for Brain Tauopathy","volume":"1184","author":"Shoji","year":"2019","journal-title":"Tau Biol."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1002\/mus.27212","article-title":"Is cerebrospinal fluid amyloid-\u03b242 a promising biomarker of response to nusinersen in adult spinal muscular atrophy patients?","volume":"63","author":"Introna","year":"2021","journal-title":"Muscle Nerve"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ejmech.2017.07.070","article-title":"Tau protein aggregation in Alzheimer\u2019s disease: An attractive target for the development of novel therapeutic agents","volume":"139","author":"Jouanne","year":"2017","journal-title":"Eur. J. Med. Chem."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1007\/s00415-019-09389-8","article-title":"NFL is a marker of treatment response in children with SMA treated with nusinersen","volume":"266","author":"Olsson","year":"2019","journal-title":"J. Neurol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1136\/jnnp-2018-320033","article-title":"Neurofilaments and tau in CSF in an infant with SMA type 1 treated with nusinersen","volume":"90","author":"Winter","year":"2019","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_148","doi-asserted-by":"crossref","unstructured":"Totzeck, A., Stolte, B., Kizina, K., Bolz, S., Schlag, M., Thimm, A., Kleinschnitz, C., and Hagenacker, T. (2019). Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20215397"},{"key":"ref_149","doi-asserted-by":"crossref","unstructured":"V\u00e5gberg, M., Norgren, N., Dring, A., Lindqvist, T., Birgander, R., Zetterberg, H., and Svenningsson, A. (2015). Levels and Age Dependency of Neurofilament Light and Glial Fibrillary Acidic Protein in Healthy Individuals and Their Relation to the Brain Parenchymal Fraction. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0135886"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1093\/brain\/awaa098","article-title":"Neurofilaments: Neurobiological foundations for biomarker applications","volume":"143","author":"Gafson","year":"2020","journal-title":"Brain"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1002\/acn3.779","article-title":"Neurofilament as a potential biomarker for spinal muscular atrophy","volume":"6","author":"Darras","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"3034","DOI":"10.1111\/jcmm.14939","article-title":"Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients","volume":"24","author":"Faravelli","year":"2020","journal-title":"J. Cell. Mol. Med."},{"key":"ref_153","doi-asserted-by":"crossref","unstructured":"Wurster, C.D., G\u00fcnther, R., Steinacker, P., Dreyhaupt, J., Wollinsky, K., Uzelac, Z., Witzel, S., Kocak, T., Winter, B., and Koch, J.C. (2019). Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment. Ther. Adv. Neurol. 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