{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T21:43:41Z","timestamp":1791323021403,"version":"4.3.1"},"reference-count":59,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,4,24]],"date-time":"2021-04-24T00:00:00Z","timestamp":1619222400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,4,24]],"date-time":"2021-04-24T00:00:00Z","timestamp":1619222400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Johann Wolfgang Goethe-Universit\u00e4t, Frankfurt am Main"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ataxia telangiectasia (A-T) is a progressive and life-limiting disease associated with cerebellar ataxia due to progressive cerebellar degeneration. In addition to ataxia, which is described in detail, the presence of chorea, dystonia, oculomotor apraxia, athetosis, parkinsonism, and myoclonia are typical manifestations of the disease. The study aimed to evaluate the specificity and sensitivity of neurofilament light chain (NfL) as a biomarker of neurodegeneration in relation to SARA score. In this prospective trial, one visit of 42 A-T patients aged 1.3\u201325.6 years (mean 11.6 \u00b1 7.3 years) was performed, in which NfL was determined from serum by ELISA. Additionally, a neurological examination of the patients was performed. Blood was collected from 19 healthy volunteers \u2265 12 years of age. We found significantly increased levels of NfL in patients with A-T compared to healthy controls (21.5 \u00b1 3.6 pg\/mL vs. 9.3 \u00b1 0.49 pg\/mL,\n                    <jats:italic>p<\/jats:italic>\n                    \u2264 0.01). There was a significant correlation of NfL with age, AFP, and SARA. NfL is a new potential progression biomarker in blood for neurodegeneration in A-T which increases with age.\n                  <\/jats:p>","DOI":"10.1007\/s12311-021-01257-4","type":"journal-article","created":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T01:02:37Z","timestamp":1619312557000},"page":"39-47","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia"],"prefix":"10.1007","volume":"21","author":[{"given":"H.","family":"Donath","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Woelke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Schubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kieslich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Theis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Auburger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. P.","family":"Duecker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Zielen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,24]]},"reference":[{"key":"1257_CR1","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1542\/peds.21.4.526","volume":"21","author":"E Boder","year":"1958","unstructured":"Boder E, Sedwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. 1958;21:526\u201354.","journal-title":"Pediatrics"},{"key":"1257_CR2","doi-asserted-by":"publisher","first-page":"317","DOI":"10.3389\/fped.2020.00317","volume":"8","author":"H Donath","year":"2020","unstructured":"Donath H, Hess U, Kieslich M, Theis M, Ohlenschl\u00e4ger U, Schubert R, et al. Diabetes in patients with ataxia telangiectasia: a national cohort study. Front Pediatr. 2020;8:317. https:\/\/doi.org\/10.3389\/fped.2020.00317.","journal-title":"Front Pediatr"},{"key":"1257_CR3","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1002\/ppul.22817","volume":"49","author":"SA Schroeder","year":"2014","unstructured":"Schroeder SA, Zielen S. Infections of the respiratory system in patients with ataxia-telangiectasia. Pediatr Pulmonol. 2014;49:389\u201399.","journal-title":"Pediatr Pulmonol"},{"issue":"138","key":"1257_CR4","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1183\/16000617.0066-2015","volume":"24","author":"JM Bhatt","year":"2015","unstructured":"Bhatt JM, Bush A, van Gerven M, Nissenkorn A, Renke M, Yarlett L, et al. Merkus PJ; European Respiratory Society. ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia. Eur Respir Rev. 2015;24(138):565\u201381. https:\/\/doi.org\/10.1183\/16000617.0066-2015.","journal-title":"Eur Respir Rev"},{"key":"1257_CR5","doi-asserted-by":"publisher","first-page":"2785","DOI":"10.3389\/fimmu.2019.02785","volume":"10","author":"R Duecker","year":"2019","unstructured":"Duecker R, Baer PC, Buecker A, Huenecke S, Pfeffermann L-M, Modlich U, et al. Hematopoietic stem cell transplantation restores na\u00efve T-cell populations in Atm-deficient mice and in preemptively treated patients with ataxia-telangiectasia. Front Immunol. 2019;10:2785.","journal-title":"Front Immunol"},{"key":"1257_CR6","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1093\/hmg\/dds448","volume":"22","author":"J Pietzner","year":"2013","unstructured":"Pietzner J, Baer PC, Duecker RP, Merscher MB, Satzger-Prodinger C, Bechmann I, et al. Bone marrow transplantation improves the outcome of Atm-deficient mice through the migration of ATM-competent cells. Hum Mol Genet. 2013;22:493\u2013507.","journal-title":"Hum Mol Genet"},{"key":"1257_CR7","doi-asserted-by":"publisher","first-page":"2495","DOI":"10.3389\/fimmu.2018.02495","volume":"29","author":"S Bakhtiar","year":"2018","unstructured":"Bakhtiar S, Woelke S, Huenecke S, Kieslich M, Taylor AM, Schubert R, et al. Pre-emptive allogeneic hematopoietic stem cell transplantation in ataxia telangiectasia. Front Immunol. 2018;29:2495.","journal-title":"Front Immunol"},{"key":"1257_CR8","doi-asserted-by":"publisher","first-page":"e0195388","DOI":"10.1371\/journal.pone.0195388","volume":"13","author":"M Menotta","year":"2018","unstructured":"Menotta M, Orazi S, Gioacchini AM, Spapperi C, Ricci A, Chessa L, et al. Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with dexamethasone. PLoS One. 2018;13:e0195388.","journal-title":"PLoS One"},{"key":"1257_CR9","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1016\/j.tmrv.2017.09.001","volume":"32","author":"SA Coker","year":"2018","unstructured":"Coker SA, Szczepiorkowski ZM, Siegel AH, Ferrari A, Mambrini G, Anand R, et al. A study of the pharmacokinetic properties and the in vivo kinetics of erythrocytes loaded with dexamethasone sodium phosphate in healthy volunteers. Transfus Med Rev. 2018;32:102\u201310.","journal-title":"Transfus Med Rev"},{"key":"1257_CR10","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1007\/s11010-017-3122-x","volume":"438","author":"M Menotta","year":"2018","unstructured":"Menotta M, Biagiotti S, Orazi S, Rossi L, Chessa L, Leuzzi V, et al. In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia. Mol Cell Biochem. 2018;438:153\u201366.","journal-title":"Mol Cell Biochem"},{"key":"1257_CR11","doi-asserted-by":"publisher","first-page":"2703","DOI":"10.3389\/fimmu.2018.02703","volume":"9","author":"D Carranza","year":"2018","unstructured":"Carranza D, Torres-Rusillo S, Ceballos-P\u00e9rez G, Blanco-Jimenez E, Mu\u00f1oz-L\u00f3pez M, Garc\u00eda-P\u00e9rez JL, et al. Reconstitution of the ataxia-telangiectasia cellular phenotype with lentiviral vectors. Front Immunol. 2018;9:2703.","journal-title":"Front Immunol"},{"key":"1257_CR12","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1038\/sj.mt.6300338","volume":"16","author":"ML Cort\u00e9s","year":"2008","unstructured":"Cort\u00e9s ML, Oehmig A, Saydam O, Sanford JD, Perry KF, Fraefel C, et al. Targeted integration of functional human ATM cDNA into genome mediated by HSV\/AAV hybrid amplicon vector. Mol Ther. 2008;16:81\u20138.","journal-title":"Mol Ther"},{"key":"1257_CR13","doi-asserted-by":"publisher","first-page":"5224","DOI":"10.1039\/C5OB00230C","volume":"13","author":"MJ de las Infantas Pineda","year":"2015","unstructured":"de las Infantas Pineda MJ, Torres-Rusillo S, Unciti-Broceta JD, Fernandez-Rubio P, Luque-Gonzalez MA, Gallo MA, et al. Synthesis of 6,8,9 poly-substituted purine analogue libraries as pro-apoptotic inducers of human leukemic lymphocytes and DAPK-1 inhibitors. Org Biomol Chem. 2015;13:5224\u201334.","journal-title":"Org Biomol Chem"},{"issue":"2","key":"1257_CR14","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1002\/ana.25394","volume":"85","author":"K Schon","year":"2019","unstructured":"Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, et al. Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. Ann Neurol. 2019;85(2):170\u201380. https:\/\/doi.org\/10.1002\/ana.25394.","journal-title":"Ann Neurol"},{"key":"1257_CR15","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.clim.2017.01.009","volume":"178","author":"NJH van Os","year":"2017","unstructured":"van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:45\u201355. https:\/\/doi.org\/10.1016\/j.clim.2017.01.009.","journal-title":"Clin Immunol"},{"issue":"5","key":"1257_CR16","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1007\/s12519-017-0011-z","volume":"13","author":"H Akturk","year":"2017","unstructured":"Akturk H, Sutcu M, Somer A, Piskin S, Acar M, Ozmen M, et al. Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. World J Pediatr. 2017;13(5):465\u201371. https:\/\/doi.org\/10.1007\/s12519-017-0011-z.","journal-title":"World J Pediatr"},{"issue":"7","key":"1257_CR17","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1136\/adc.2006.094268","volume":"91","author":"RL Skolasky","year":"2006","unstructured":"Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM. Survival probability in ataxia telangiectasia. Arch Dis Child. 2006;91(7):610\u20131. https:\/\/doi.org\/10.1136\/adc.2006.094268.","journal-title":"Arch Dis Child"},{"key":"1257_CR18","first-page":"255","volume":"1","author":"E Boder","year":"1975","unstructured":"Boder E. Ataxia telangiectasia: some historic, clinical and pathological observations. Birth Defects: Original Article Series II. 1975;1:255\u20137.","journal-title":"Birth Defects: Original Article Series II"},{"key":"1257_CR19","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1097\/00005072-196810000-00009","volume":"27","author":"MJ Aguilar","year":"1968","unstructured":"Aguilar MJ, Kamoshita S, Landing B, Boder E. Pathological observations in ataxia-telangiectasia. A report of five cases. J Neuropathol Exp Neurol. 1968;27:659\u201376.","journal-title":"J Neuropathol Exp Neurol"},{"issue":"3","key":"1257_CR20","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1055\/s-0032-1313915","volume":"43","author":"F Hoche","year":"2012","unstructured":"Hoche F, Seidel K, Theis M, Vlaho S, Schubert R, Zielen S, et al. Neurodegeneration in ataxia telangiectasia: what is new? What is evident? Neuropediatrics. 2012;43(3):119\u201329.","journal-title":"Neuropediatrics."},{"key":"1257_CR21","first-page":"79","volume":"28","author":"LI Wallis","year":"2007","unstructured":"Wallis LI, Griffith PD, Ritchie SJ, Romanowski CAJ, Darwent G, Wilkinson ID. Proton spectroscopy and imaging at 3T in ataxia telangiectasia. Am J Neuroradiol. 2007;28:79\u201383.","journal-title":"Am J Neuroradiol"},{"key":"1257_CR22","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1097\/NRL.0b013e31815fa5a7","volume":"14","author":"M Habek","year":"2008","unstructured":"Habek M, Brinar VV, Rados M, Zadro I, Zarkovic K. Brain MRI abnormalities in ataxia-telangiectasia. Neurologist. 2008;14:192\u20135.","journal-title":"Neurologist"},{"key":"1257_CR23","doi-asserted-by":"publisher","first-page":"1505","DOI":"10.1212\/WNL.54.7.1505","volume":"54","author":"TO Crawford","year":"2000","unstructured":"Crawford TO, Mandir AS, Lefton-Greif MA, et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology. 2000;54:1505\u20139.","journal-title":"Neurology"},{"key":"1257_CR24","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","volume":"66","author":"T Schmitz-H\u00fcbsch","year":"2006","unstructured":"Schmitz-H\u00fcbsch T, du Montcel Tezenas S, et al. Scale for the assessment and rating of ataxia. Development of a new clinical scale. Neurology. 2006;66:1717\u201320.","journal-title":"Neurology"},{"issue":"3","key":"1257_CR25","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1007\/s10875-012-9846-1","volume":"33","author":"J Mallott","year":"2013","unstructured":"Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540\u20139. https:\/\/doi.org\/10.1007\/s10875-012-9846-1.","journal-title":"J Clin Immunol"},{"issue":"6","key":"1257_CR26","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1002\/ana.24954","volume":"81","author":"G Disanto","year":"2017","unstructured":"Disanto G, Barro C, Benkert P, Naegelin Y, Sch\u00e4delin S, Giardiello A, et al. Serum neurofilament light: a biomarker of neuronal damage in multiple sclerosis. Ann Neurol. 2017;81(6):857\u201370. https:\/\/doi.org\/10.1002\/ana.24954.","journal-title":"Ann Neurol"},{"key":"1257_CR27","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1038\/s41582-018-0058-z","volume":"14","author":"M Khalil","year":"2018","unstructured":"Khalil M, Teunissen CE, Otto M, Piehl F, Sormani MP, Gattringer T, et al. Neurofilaments as biomarkers in neurological disorders. Nat Rev Neurol. 2018;14:577\u201389.","journal-title":"Nat Rev Neurol"},{"key":"1257_CR28","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1038\/s41467-020-14612-6","volume":"11","author":"M Khalil","year":"2020","unstructured":"Khalil M, Pirpamer L, Hofer E, Voortman MM, Barro C, Leppert D, et al. Serum neurofilament light levels in normal aging and their association with morphologic brain changes. Nat Commun. 2020;11:812.","journal-title":"Nat Commun"},{"issue":"9","key":"1257_CR29","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1001\/jamaneurol.2019.1534","volume":"76","author":"C Bridel","year":"2019","unstructured":"Bridel C, van Wieringen WN, Zetterberg H, Tijms BM, Teunissen CE, and the NFL Group, et al. Diagnostic value of cerebrospinal fluid neurofilament light protein in neurology: a systematic review and meta-analysis. JAMA Neurol. 2019;76(9):1035\u201348. https:\/\/doi.org\/10.1001\/jamaneurol.2019.1534.","journal-title":"JAMA Neurol"},{"issue":"1","key":"1257_CR30","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/s13024-019-0338-0","volume":"14","author":"QF Li","year":"2019","unstructured":"Li QF, Dong Y, Yang L, Xie JJ, Ma Y, Du YC, et al. Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3. Mol Neurodegener. 2019;14(1):39. https:\/\/doi.org\/10.1186\/s13024-019-0338-0.","journal-title":"Mol Neurodegener"},{"key":"1257_CR31","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1111\/cei.12105","volume":"173","author":"B Gathmann","year":"2013","unstructured":"Gathmann B, Goldacker S, Klima M, Belohradsky BH, Notheis G, Ehl S, et al. The German National Registry for primary immunodeficiencies (PID). Clin Exp Immunol. 2013;173:372\u201380. https:\/\/doi.org\/10.1111\/cei.12105.","journal-title":"Clin Exp Immunol"},{"issue":"8","key":"1257_CR32","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1002\/mds.27319","volume":"33","author":"A Levy","year":"2018","unstructured":"Levy A, Lang AE. Ataxia-telangiectasia: a review of movement disorders, clinical features, and genotype correlations. Mov Disord. 2018;33(8):1238\u201347. https:\/\/doi.org\/10.1002\/mds.27319.","journal-title":"Mov Disord"},{"key":"1257_CR33","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.parkreldis.2017.12.009","volume":"46","author":"HAG Teive","year":"2018","unstructured":"Teive HAG, Camargo CHF, Munhoz RP. More than ataxia - movement disorders in ataxia-telangiectasia. Parkinsonism Relat Disord. 2018 Jan;46:3\u20138. https:\/\/doi.org\/10.1016\/j.parkreldis.2017.12.009.","journal-title":"Parkinsonism Relat Disord"},{"issue":"12","key":"1257_CR34","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1212\/WNL.0000000000000794","volume":"83","author":"A M\u00e9neret","year":"2014","unstructured":"M\u00e9neret A, Ahmar-Beaugendre Y, Rieunier G, Mahlaoui N, Gaymard B, Apartis E, et al. The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology. 2014 Sep 16;83(12):1087\u201395. https:\/\/doi.org\/10.1212\/WNL.0000000000000794.","journal-title":"Neurology."},{"issue":"3","key":"1257_CR35","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1016\/j.jpeds.2011.02.005","volume":"159","author":"A Nissenkorn","year":"2011","unstructured":"Nissenkorn A, Levi YB, Vilozni D, Berkun Y, Efrati O, Frydman M, et al. Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease? J Pediatr. 2011;159(3):466\u2013471.e1. https:\/\/doi.org\/10.1016\/j.jpeds.2011.02.005.","journal-title":"J Pediatr"},{"issue":"298","key":"1257_CR36","first-page":"169","volume":"82","author":"CG Woods","year":"1992","unstructured":"Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med. 1992;82(298):169\u201379.","journal-title":"Q J Med"},{"issue":"4","key":"1257_CR37","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/s1071-9091(98)80007-7","volume":"5","author":"TOE Crawford","year":"1998","unstructured":"Crawford TOE. Ataxia telangiectasia. Semin Pediatr Neurol. 1998;5(4):287\u201394. https:\/\/doi.org\/10.1016\/s1071-9091(98)80007-7.","journal-title":"Semin Pediatr Neurol"},{"key":"1257_CR38","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/s13023-016-0543-7","volume":"11","author":"C Rothblum-Oviatt","year":"2016","unstructured":"Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TOE, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11:15.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"1257_CR39","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/s0022-3476(00)70106-5","volume":"136","author":"MA Lefton-Greif","year":"2000","unstructured":"Lefton-Greif MA, Crawford TO, Winkelstein JA, Loughlin GM, Koerner CB, Zahurak M, et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr. 2000;136(2):225\u201331. https:\/\/doi.org\/10.1016\/s0022-3476(00)70106-5.","journal-title":"J Pediatr"},{"issue":"4","key":"1257_CR40","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1136\/archdischild-2016-310477","volume":"102","author":"R Devaney","year":"2017","unstructured":"Devaney R, Pasalodos S, Suri M. Ataxia telangiectasia: presentation and diagnostic delay. Arch Dis Child. 2017;102(4):328\u201330.","journal-title":"Arch Dis Child"},{"issue":"4","key":"1257_CR41","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1007\/s12311-014-0557-4","volume":"13","author":"I Sahama","year":"2014","unstructured":"Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in ataxia telangiectasia: a review. Cerebellum. 2014a;13(4):521\u201330. https:\/\/doi.org\/10.1007\/s12311-014-0557-4.","journal-title":"Cerebellum"},{"issue":"2","key":"1257_CR42","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1007\/s12311-009-0138-0","volume":"9","author":"M Kieslich","year":"2010","unstructured":"Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, et al. Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH\/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age. Cerebellum. 2010 Jun;9(2):190\u20137. https:\/\/doi.org\/10.1007\/s12311-009-0138-0.","journal-title":"Cerebellum."},{"key":"1257_CR43","doi-asserted-by":"publisher","first-page":"102110","DOI":"10.1016\/j.nicl.2019.102110","volume":"25","author":"RA Dineen","year":"2020","unstructured":"Dineen RA, Raschke F, McGlashan HL, Pszczolkowski S, Hack L, Cooper AD, et al. Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia. Neuroimage Clin. 2020;25:102110. https:\/\/doi.org\/10.1016\/j.nicl.2019.102110.","journal-title":"Neuroimage Clin"},{"issue":"2","key":"1257_CR44","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/s0022-510x(96)00231-6","volume":"145","author":"P Trouillas","year":"1997","unstructured":"Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci. 1997;145(2):205\u201311. https:\/\/doi.org\/10.1016\/s0022-510x(96)00231-6.","journal-title":"J Neurol Sci"},{"issue":"7","key":"1257_CR45","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1111\/dmcn.13052","volume":"58","author":"TJ Jackson","year":"2016","unstructured":"Jackson TJ, Chow G, Suri M, Byrd P, Taylor MR, Whitehouse WP. Longitudinal analysis of the neurological features of ataxia-telangiectasia. Dev Med Child Neurol. 2016;58(7):690\u20137. https:\/\/doi.org\/10.1111\/dmcn.13052.","journal-title":"Dev Med Child Neurol"},{"key":"1257_CR46","doi-asserted-by":"publisher","first-page":"578903","DOI":"10.1155\/2011\/578903","volume":"2011","author":"M Dzieciatkowska","year":"2011","unstructured":"Dzieciatkowska M, Qi G, You J, Bemis KG, Sahm H, Lederman HM, et al. Proteomic characterization of cerebrospinal fluid from ataxia-telangiectasia (A-T) patients using a LC\/MS-based label-free protein quantification technology. Int J Proteomics. 2011;2011:578903.","journal-title":"Int J Proteomics"},{"issue":"4","key":"1257_CR47","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1007\/s10048-018-0557-5","volume":"19","author":"J Canet-Pons","year":"2018","unstructured":"Canet-Pons J, Schubert R, Duecker RP, Schrewe R, W\u00f6lke S, Kieslich M, et al. Ataxia telangiectasia alters the ApoB and Reelin pathway. Neurogenetics. 2018;19(4):237\u201355. https:\/\/doi.org\/10.1007\/s10048-018-0557-5.","journal-title":"Neurogenetics."},{"key":"1257_CR48","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s12311-020-01175-x","volume":"20","author":"S Woelke","year":"2020","unstructured":"Woelke S, Schrewe R, Donath H, Theis M, Kieslich M, Duecker R, et al. Altered cerebrospinal fluid (CSF) in children with ataxia telangiectasia. Cerebellum. 2020;20:31\u201340. https:\/\/doi.org\/10.1007\/s12311-020-01175-x.","journal-title":"Cerebellum"},{"issue":"8","key":"1257_CR49","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1136\/jnnp-2018-320106","volume":"90","author":"L Gaetani","year":"2019","unstructured":"Gaetani L, Blennow K, Calabresi P, Di Filippo M, Parnetti L, Zetterberg H. Neurofilament light chain as a biomarker in neurological disorders. J Neurol Neurosurg Psychiatry. 2019;90(8):870\u201381. https:\/\/doi.org\/10.1136\/jnnp-2018-320106.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"7","key":"1257_CR50","doi-asserted-by":"publisher","first-page":"1975","DOI":"10.1093\/brain\/awaa098","volume":"143","author":"AR Gafson","year":"2020","unstructured":"Gafson AR, Barth\u00e9lemy NR, Bomont P, Carare RO, Durham HD, Julien JP, et al. Neurofilaments: neurobiological foundations for biomarker applications. Brain. 2020;143(7):1975\u201398. https:\/\/doi.org\/10.1093\/brain\/awaa098.","journal-title":"Brain"},{"issue":"5","key":"1257_CR51","doi-asserted-by":"publisher","first-page":"1420","DOI":"10.1007\/s00415-020-09722-6","volume":"267","author":"SN Hayer","year":"2020","unstructured":"Hayer SN, Liepelt I, Barro C, et al. NfL and pNfH are increased in Friedreich\u2019s ataxia. J Neurol. 2020;267(5):1420\u201330. https:\/\/doi.org\/10.1007\/s00415-020-09722-6.","journal-title":"J Neurol"},{"key":"1257_CR52","doi-asserted-by":"publisher","first-page":"e1007","DOI":"10.1212\/WNL.0000000000007032","volume":"92","author":"J Kuhle","year":"2019","unstructured":"Kuhle J, Kropshofer H, Haering DA, et al. Blood neurofilament light chain as a biomarker of MS disease activity and treatment response. Neurology. 2019;92:e1007\u201315.","journal-title":"Neurology"},{"issue":"24","key":"1257_CR53","doi-asserted-by":"publisher","first-page":"2302","DOI":"10.1212\/WNL.0000000000004029","volume":"88","author":"K Poesen","year":"2017","unstructured":"Poesen K, De Schaepdryver M, Stubendorff B, et al. Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease. Neurology. 2017;88(24):2302\u20139. https:\/\/doi.org\/10.1212\/WNL.0000000000004029.","journal-title":"Neurology."},{"issue":"1","key":"1257_CR54","doi-asserted-by":"publisher","first-page":"e22","DOI":"10.1212\/WNL.0000000000004761","volume":"90","author":"E Feneberg","year":"2018","unstructured":"Feneberg E, Oeckl P, Steinacker P, Verde F, Barro C, Van Damme P, et al. Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis. Neurology. 2018;90(1):e22\u201330. https:\/\/doi.org\/10.1212\/WNL.0000000000004761.","journal-title":"Neurology."},{"issue":"1","key":"1257_CR55","first-page":"44","volume":"7","author":"S Monaco","year":"1988","unstructured":"Monaco S, Nardelli E, Moretto G, Cavallaro T, Rizzuto N. Cytoskeletal pathology in ataxia-telangiectasia. Clin Neuropathol. 1988;7(1):44\u20136.","journal-title":"Clin Neuropathol"},{"key":"1257_CR56","doi-asserted-by":"publisher","first-page":"e11803","DOI":"10.15252\/emmm.201911803","volume":"12","author":"C Wilke","year":"2020","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 [published online ahead of print, 2020 Jun 8]. EMBO Mol Med. 2020;12:e11803. https:\/\/doi.org\/10.15252\/emmm.201911803.","journal-title":"EMBO Mol Med"},{"key":"1257_CR57","doi-asserted-by":"publisher","unstructured":"Clay A, Obrochta KM, Soon RK Jr, Russell CB, Lynch DR. Neurofilament light chain as a potential biomarker of disease status in Friedreich\u2019 ataxia [published online ahead of print, 2020 May 8]. J Neurol. 2020. https:\/\/doi.org\/10.1007\/s00415-020-09868-3.","DOI":"10.1007\/s00415-020-09868-3"},{"issue":"7","key":"1257_CR58","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1002\/acn3.212","volume":"2","author":"RA Menke","year":"2015","unstructured":"Menke RA, Gray E, Lu CH, Kuhle J, Talbot K, Malaspina A, et al. CSF neurofilament light chain reflects corticospinal tract degeneration in ALS. Ann Clin Transl Neurol. 2015;2(7):748\u201355. https:\/\/doi.org\/10.1002\/acn3.212.","journal-title":"Ann Clin Transl Neurol"},{"issue":"6","key":"1257_CR59","doi-asserted-by":"publisher","first-page":"e518","DOI":"10.1212\/WNL.0000000000004932","volume":"90","author":"\u00c5 Sandelius","year":"2018","unstructured":"Sandelius \u00c5, Zetterberg H, Blennow K, Adiutori R, Malaspina A, Laura M, et al. Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Neurology. 2018;90(6):e518\u201324. https:\/\/doi.org\/10.1212\/WNL.0000000000004932.","journal-title":"Neurology"}],"updated-by":[{"DOI":"10.1007\/s12311-021-01280-5","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2021,6,2]],"date-time":"2021-06-02T00:00:00Z","timestamp":1622592000000}}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-021-01257-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-021-01257-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-021-01257-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T08:28:46Z","timestamp":1646036926000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-021-01257-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,24]]},"references-count":59,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["1257"],"URL":"https:\/\/doi.org\/10.1007\/s12311-021-01257-4","relation":{},"ISSN":["1473-4222","1473-4230"],"issn-type":[{"value":"1473-4222","type":"print"},{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,24]]},"assertion":[{"value":"10 March 2021","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2021","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 June 2021","order":3,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":4,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":5,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s12311-021-01280-5","URL":"https:\/\/doi.org\/10.1007\/s12311-021-01280-5","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the responsible ethics committee in Frankfurt (application number 168\/18). All patients and\/or caregivers gave their written informed consent to participate in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Consent for publication was obtained for any individual data presented.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}