{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:43:03Z","timestamp":1784544183471,"version":"3.55.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universidade Federal Do Cear\u00e1"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by pathogenic variants in\n                    <jats:italic>CYP27A1<\/jats:italic>\n                    , leading to cholestanol accumulation and progressive neurological dysfunction. Neurofilament light chain (NfL) is a biomarker of neuroaxonal injury in several hereditary ataxias, but its role in CTX has not been investigated. We aimed to determine whether serum NfL is elevated in CTX and whether it correlates with clinical severity. Methods: Five genetically confirmed CTX patients and five age-, sex-, and body mass index\u2013matched healthy controls were evaluated. Clinical severity was assessed using the Scale for the Assessment and Rating of Ataxia (SARA). Serum NfL concentrations were measured using single-molecule array technology. Group comparisons were performed using the Mann\u2013Whitney U test, and associations were assessed using Spearman\u2019s correlation coefficient. Results: Serum NfL levels were significantly higher in CTX patients than in controls (median 14.63 pg\/mL [interquartile range 5.10\u201318.17] vs. 2.90 pg\/mL [2.52\u20133.56]; p = 0.008). Within the CTX group, NfL levels showed a strong positive correlation with SARA scores (Spearman's \u03c1 = 0.90, p = 0.037), indicating higher NfL levels in patients with greater neurological impairment. Conclusion: Serum NfL is elevated in CTX and correlates with ataxia severity, supporting its potential relevance as a marker of neuroaxonal injury in this disorder. Larger longitudinal studies are needed to confirm these preliminary findings and clarify the role of NfL in disease monitoring.\n                  <\/jats:p>","DOI":"10.1007\/s12311-026-01993-5","type":"journal-article","created":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T06:35:05Z","timestamp":1776407705000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study"],"prefix":"10.1007","volume":"25","author":[{"given":"Antonio Edvan","family":"Camelo-Filho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro Lucas Grangeiro","family":"S\u00e1 Barreto Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo Fagundes","family":"da Rosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver R","family":"Miyajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matheus Henrique Brustolim","family":"Marcucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie Suzanne","family":"de Oliveira Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Edmundo Teixeira","family":"de Arruda Furtado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annyta F","family":"Frota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle V R","family":"Soares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle S","family":"Macedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Pessoa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo R","family":"N\u00f3brega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Braga-Neto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"1993_CR1","doi-asserted-by":"publisher","unstructured":"Ribeiro RM, Vasconcelos SC, Lima PLGSB, et al. Pathophysiology and treatment of lipid abnormalities in cerebrotendinous xanthomatosis: An Integrative Review Brain Sci. 2023;13:979. https:\/\/doi.org\/10.3390\/brainsci13070979.","DOI":"10.3390\/brainsci13070979"},{"key":"1993_CR2","doi-asserted-by":"publisher","unstructured":"O'Keefe E, Kiernan M, Huynh W. Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. Eur J Neurol. 2025;32:e70006. https:\/\/doi.org\/10.1111\/ene.70006.","DOI":"10.1111\/ene.70006"},{"key":"1993_CR3","doi-asserted-by":"publisher","first-page":"1203","DOI":"10.1111\/j.1468-1331.2011.03439.x","volume":"18","author":"B Pilo-de-la-Fuente","year":"2011","unstructured":"Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, et al. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol. 2011;18:1203\u20131211. https:\/\/doi.org\/10.1111\/j.1468-1331.2011.03439.x.","journal-title":"Eur J Neurol"},{"key":"1993_CR4","doi-asserted-by":"publisher","unstructured":"N\u00f3bregaPR, Bernardes AM, Ribeiro RM, et al. Cerebrotendinous xanthomatosis: a practice review of pathophysiology, diagnosis, and treatment. Front Neurol. 2022;13:1049850. https:\/\/doi.org\/10.3389\/fneur.2022.1049850.","DOI":"10.3389\/fneur.2022.1049850"},{"key":"1993_CR5","doi-asserted-by":"publisher","unstructured":"Fussiger H, Lima PLGSB, Souza PVS, et al. Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil. Clin Genet. 2024;106:721\u2013732. https:\/\/doi.org\/10.1111\/cge.14602.","DOI":"10.1111\/cge.14602"},{"key":"1993_CR6","doi-asserted-by":"publisher","unstructured":"Chun MY, Heo NJ, Seo SW, et al. Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia. Front Neurol. 2023;14:1131888. https:\/\/doi.org\/10.3389\/fneur.2023.1131888.","DOI":"10.3389\/fneur.2023.1131888"},{"key":"1993_CR7","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1007\/s12311-025-01814-1","volume":"24","author":"AE Camelo-Filho","year":"2025","unstructured":"Camelo-Filho AE, da Rosa RF, Lima PLGSB, et al. Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series. Cerebellum. 2025;24:59. https:\/\/doi.org\/10.1007\/s12311-025-01814-1.","journal-title":"Cerebellum"},{"key":"1993_CR8","doi-asserted-by":"publisher","unstructured":"AktugluZeybek C, Gunduz A, Enver EO, et al. Movement disorders in the early-diagnosed cerebrotendinous xanthomatosis: An electrophysiological study. Parkinsonism Relat Disord. 2020;80:12\u201314. https:\/\/doi.org\/10.1016\/j.parkreldis.2020.09.002.","DOI":"10.1016\/j.parkreldis.2020.09.002"},{"key":"1993_CR9","doi-asserted-by":"publisher","first-page":"1159","DOI":"10.3390\/brainsci14111159","volume":"14","author":"AE Camelo-Filho","year":"2024","unstructured":"Camelo-Filho AE, Lima PLGSB, Cavalcante FLHB, et al. Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention. Brain Sci. 2024;14:1159. https:\/\/doi.org\/10.3390\/brainsci14111159.","journal-title":"Brain Sci"},{"key":"1993_CR10","doi-asserted-by":"publisher","unstructured":"Peng L, Wang S, Chen Z, et al. Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis. Mov Disord. 2022;37:171\u2013181. https:\/\/doi.org\/10.1002\/mds.28783.","DOI":"10.1002\/mds.28783"},{"key":"1993_CR11","doi-asserted-by":"publisher","unstructured":"Faber J, Berger M, Wilke C, et al. 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Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717\u20131720. https:\/\/doi.org\/10.1212\/01.wnl.0000219042.60538.92.","DOI":"10.1212\/01.wnl.0000219042.60538.92"},{"key":"1993_CR18","doi-asserted-by":"publisher","unstructured":"Wilke C, Haas E, Reetz K, et al. Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice. 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Written informed consent was obtained from all participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}},{"value":"not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Clinical Trial Number"}}],"article-number":"56"}}