{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:22:23Z","timestamp":1786980143092,"version":"build-2736575974"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T00:00:00Z","timestamp":1782691200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T00:00:00Z","timestamp":1782691200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI 24\/01512"],"award-info":[{"award-number":["PI 24\/01512"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["DTS23\/00112"],"award-info":[{"award-number":["DTS23\/00112"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI21\/01532"],"award-info":[{"award-number":["PI21\/01532"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI22\/01830"],"award-info":[{"award-number":["PI22\/01830"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014849","name":"Conselleria de Cultura, Educaci\u00f3n y Ciencia, Generalitat Valenciana","doi-asserted-by":"publisher","award":["CIPROM\/2023\/053"],"award-info":[{"award-number":["CIPROM\/2023\/053"]}],"id":[{"id":"10.13039\/501100014849","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Universitat de Valencia"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and objective<\/jats:title>\n                    <jats:p>Nusinersen was the first disease-modifying treatment approved for spinal muscular atrophy (SMA). However, long-term results of broad unselected populations\u2014particularly adolescents and adults\u2014remain limited. We aimed to evaluate nusinersen long-term persistence and effectiveness in a population-based cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a population-based, ambispective observational study of all SMA patients in the Valencian community (Spain) between 2017 and 2022, with follow-up until December 2025 or censoring (due to death, clinical trial, or treatment switch). Demographic, clinical, and motor outcomes using revised SMA Functional Composite Score (SMA-FCR) were collected. Patients were classified as responders or non-responders. Nusinersen discontinuation risks and motor trajectories were evaluated using Bayesian linear and mixed linear models.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 72 patients included, 18 were\u2009&lt;\u200912 years old (all treated with nusinersen) and 54 were\u2009\u2265\u200912 years (28 treated; 26 untreated) at the baseline visit. After a median follow-up of 4.6 years until censoring, all children were found responders, compared with 68% of those\u2009\u2265\u200912 years. Discontinuation rates were 11% in children compared to 75% in the older cohort. In patients\u2009\u2265\u200912 years, reasons for discontinuation included: treatment burden (71%), and loss (53%) or lack of benefit (43%). Lower baseline SMA-FCR (expEstimate\u2009=\u20090.84 [0.718,0.93],prob:1) and older age (expEstimate\u2009=\u20091.028 [1.011,1.055],prob:1) independently predicted higher discontinuation risk. Sustained treatment was associated with SMA-FCR increase, while untreated and discontinued patients showed slight deterioration.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Nusinersen persistence was high in children but declined significantly after age 12 due to treatment burden and limited efficacy although a 25% of adolescents and younger adults with higher baseline function experienced sustained benefit.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00415-026-13965-0","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T07:31:59Z","timestamp":1782718319000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study"],"prefix":"10.1007","volume":"273","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6447-6388","authenticated-orcid":false,"given":"Karolina","family":"Aragon-Gawinska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9272-895X","authenticated-orcid":false,"given":"Nancy Carolina","family":"Nungo-Garzon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2349-7481","authenticated-orcid":false,"given":"Nuria","family":"Muelas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2810-1180","authenticated-orcid":false,"given":"Rafael","family":"Sivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4716-2667","authenticated-orcid":false,"given":"Teresa","family":"Sevilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0635-4961","authenticated-orcid":false,"given":"David","family":"Hervas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3864-7374","authenticated-orcid":false,"given":"Inmaculada","family":"Pitarch-Castellano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3043-7938","authenticated-orcid":false,"given":"Juan F.","family":"Vazquez-Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,29]]},"reference":[{"issue":"3","key":"13965_CR1","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","volume":"15","author":"B Wirth","year":"2000","unstructured":"Wirth B (2000) An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 15(3):228\u2013237. https:\/\/doi.org\/10.1002\/(SICI)1098-1004(200003)15:3%3c228::AID-HUMU3%3e3.0.CO;2-9","journal-title":"Hum Mutat"},{"issue":"3","key":"13965_CR2","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","volume":"28","author":"M Calucho","year":"2018","unstructured":"Calucho M, Bernal S, Al\u00edas L et al (2018) Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord NMD 28(3):208\u2013215. https:\/\/doi.org\/10.1016\/j.nmd.2018.01.003","journal-title":"Neuromuscul Disord NMD"},{"issue":"6","key":"13965_CR3","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1002\/ana.25101","volume":"82","author":"SJ Kolb","year":"2017","unstructured":"Kolb SJ, Coffey CS, Yankey JW et al (2017) Natural history of infantile-onset spinal muscular atrophy. Ann Neurol 82(6):883\u2013891. https:\/\/doi.org\/10.1002\/ana.25101","journal-title":"Ann Neurol"},{"issue":"4","key":"13965_CR4","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","volume":"33","author":"SJ Kolb","year":"2015","unstructured":"Kolb SJ, Kissel JT (2015) Spinal muscular atrophy. Neurol Clin 33(4):831\u2013846. https:\/\/doi.org\/10.1016\/j.ncl.2015.07.004","journal-title":"Neurol Clin"},{"issue":"4","key":"13965_CR5","doi-asserted-by":"publisher","first-page":"523","DOI":"10.3233\/JND-200534","volume":"7","author":"VA Sansone","year":"2020","unstructured":"Sansone VA, Walter MC, Attarian S et al (2020) Measuring outcomes in adults with spinal muscular atrophy - challenges and future directions - meeting report. J Neuromuscul Dis 7(4):523\u2013534. https:\/\/doi.org\/10.3233\/JND-200534","journal-title":"J Neuromuscul Dis"},{"issue":"1","key":"13965_CR6","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1038\/s41572-022-00380-8","volume":"8","author":"E Mercuri","year":"2022","unstructured":"Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS (2022) Spinal muscular atrophy. Nat Rev Dis Primer 8(1):52. https:\/\/doi.org\/10.1038\/s41572-022-00380-8","journal-title":"Nat Rev Dis Primer"},{"issue":"21","key":"13965_CR7","doi-asserted-by":"publisher","first-page":"e2492","DOI":"10.1212\/WNL.0000000000007527","volume":"92","author":"BT Darras","year":"2019","unstructured":"Darras BT, Chiriboga CA, Iannaccone ST et al (2019) Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1\/2 studies. Neurology 92(21):e2492\u2013e2506. https:\/\/doi.org\/10.1212\/WNL.0000000000007527","journal-title":"Neurology"},{"issue":"18","key":"13965_CR8","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"RS Finkel","year":"2017","unstructured":"Finkel RS, Mercuri E, Darras BT et al (2017) Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 377(18):1723\u20131732. https:\/\/doi.org\/10.1056\/NEJMoa1702752","journal-title":"N Engl J Med"},{"issue":"7","key":"13965_CR9","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1056\/NEJMoa1710504","volume":"378","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Darras BT, Chiriboga CA et al (2018) Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med 378(7):625\u2013635. https:\/\/doi.org\/10.1056\/NEJMoa1710504","journal-title":"N Engl J Med"},{"key":"13965_CR10","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/mus.27853","volume":"68","author":"T Crawford","year":"2023","unstructured":"Crawford T, Swoboda K, Vivo DDD et al (2023) Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle Nerve 68:157\u2013170. https:\/\/doi.org\/10.1002\/mus.27853","journal-title":"Muscle Nerve"},{"key":"13965_CR11","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1007\/s13311-022-01200-3","volume":"19","author":"M Gavriilaki","year":"2022","unstructured":"Gavriilaki M, Moschou M, Papaliagkas V et al (2022) Nusinersen in adults with 5q spinal muscular atrophy: a systematic review and meta-analysis. Neurotherapeutics 19:464\u2013475. https:\/\/doi.org\/10.1007\/s13311-022-01200-3","journal-title":"Neurotherapeutics"},{"issue":"11","key":"13965_CR12","doi-asserted-by":"publisher","first-page":"1166","DOI":"10.1136\/jnnp-2020-323822","volume":"91","author":"L Maggi","year":"2020","unstructured":"Maggi L, Bello L, Bonanno S et al (2020) Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. J Neurol Neurosurg Psychiatry 91(11):1166\u20131174. https:\/\/doi.org\/10.1136\/jnnp-2020-323822","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"13965_CR13","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/S1474-4422(20)30037-5","volume":"19","author":"T Hagenacker","year":"2020","unstructured":"Hagenacker T, Wurster C, G\u00fcnther R et al (2020) Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol 19:317\u2013325. https:\/\/doi.org\/10.1016\/S1474-4422(20)30037-5","journal-title":"Lancet Neurol"},{"issue":"3","key":"13965_CR14","doi-asserted-by":"publisher","first-page":"e317","DOI":"10.1212\/CPJ.0000000000001033","volume":"11","author":"T Duong","year":"2021","unstructured":"Duong T, Wolford C, McDermott MP et al (2021) Nusinersen treatment in adults with spinal muscular atrophy. Neurol Clin Pract 11(3):e317\u2013e327. https:\/\/doi.org\/10.1212\/CPJ.0000000000001033","journal-title":"Neurol Clin Pract"},{"key":"13965_CR15","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-025-03260-1","author":"T Hagenacker","year":"2025","unstructured":"Hagenacker T, Paradis AD, Lawson-Michod KA, Youn B (2025) Systematic review and meta-analysis of long-term nusinersen effectiveness in adolescents and adults with spinal muscular atrophy. Adv Ther. https:\/\/doi.org\/10.1007\/s12325-025-03260-1","journal-title":"Adv Ther"},{"key":"13965_CR16","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanepe.2024.100862","author":"R G\u00fcnther","year":"2024","unstructured":"G\u00fcnther R, Wurster CD, Brakemeier S et al (2024) Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study. Lancet Reg Health Europe. https:\/\/doi.org\/10.1016\/j.lanepe.2024.100862","journal-title":"Lancet Reg Health Europe"},{"issue":"1","key":"13965_CR17","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1186\/s13023-023-02769-4","volume":"18","author":"A \u0141usakowska","year":"2023","unstructured":"\u0141usakowska A, W\u00f3jcik A, Fr\u0105czek A et al (2023) Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience. Orphanet J Rare Dis 18(1):230. https:\/\/doi.org\/10.1186\/s13023-023-02769-4","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"13965_CR18","doi-asserted-by":"publisher","DOI":"10.1111\/ene.70268","volume":"32","author":"G Coratti","year":"2025","unstructured":"Coratti G, Bovis F, Pane M et al (2025) Longitudinal assessment of 4-year HFMSE changes in SMA II and III patients treated with nusinersen. Eur J Neurol 32(7):e70268. https:\/\/doi.org\/10.1111\/ene.70268","journal-title":"Eur J Neurol"},{"issue":"2","key":"13965_CR19","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000213839","volume":"105","author":"A Pasternak","year":"2025","unstructured":"Pasternak A, McDermott MP, Montes J et al (2025) Spinal muscular atrophy functional composite score revised (SMA-FCR) in untreated and nusinersen-treated patient cohorts. Neurology 105(2):e213839. https:\/\/doi.org\/10.1212\/WNL.0000000000213839","journal-title":"Neurology"},{"key":"13965_CR20","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/J.EJPN.2024.09.009","volume":"53","author":"M Wik-Klokk","year":"2024","unstructured":"Wik-Klokk M, Rasmussen M, \u00d8rstavik K et al (2024) Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc 53:109\u2013116. https:\/\/doi.org\/10.1016\/J.EJPN.2024.09.009","journal-title":"Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc"},{"key":"13965_CR21","doi-asserted-by":"publisher","first-page":"3337","DOI":"10.1111\/ene.15501","volume":"29","author":"J V\u00e1zquez-Costa","year":"2021","unstructured":"V\u00e1zquez-Costa J, Povedano M, Nascimiento-Osorio A et al (2021) Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts\u2019 study. Eur J Neurol 29:3337\u20133346. https:\/\/doi.org\/10.1111\/ene.15501","journal-title":"Eur J Neurol"},{"issue":"9596","key":"13965_CR22","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1016\/S0140-6736(07)61602-X","volume":"370","author":"E von Elm","year":"2007","unstructured":"von Elm E, Altman DG, Egger M, Pocock SJ, G\u00f8tzsche PC, Vandenbroucke JP (2007) The strengthening the reporting of observational studies in epidemiology (STROBE) statement: guidelines for reporting observational studies. The Lancet 370(9596):1453\u20131457. https:\/\/doi.org\/10.1016\/S0140-6736(07)61602-X","journal-title":"The Lancet"},{"issue":"6","key":"13965_CR23","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1177\/22143602251361190","volume":"12","author":"C Puig-Ram","year":"2025","unstructured":"Puig-Ram C, Segovia S, Garcia-Uzquiano R et al (2025) Real-world data on spinal muscular atrophy in Spain: insights from over 500 individuals in the CuidAME project. J Neuromuscul Dis 12(6):837\u2013848. https:\/\/doi.org\/10.1177\/22143602251361190","journal-title":"J Neuromuscul Dis"},{"issue":"3","key":"13965_CR24","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1016\/j.nrl.2021.07.008","volume":"37","author":"I Pitarch Castellano","year":"2022","unstructured":"Pitarch Castellano I, Cabrera-Serrano M, Calvo Medina R et al (2022) Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus). Neurologia 37(3):216\u2013228. https:\/\/doi.org\/10.1016\/j.nrl.2021.07.008","journal-title":"Neurologia"},{"issue":"2","key":"13965_CR25","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1111\/ene.14586","volume":"28","author":"D Veiga-Canuto","year":"2021","unstructured":"Veiga-Canuto D, Cifri\u00e1n-P\u00e9rez M, Pitarch-Castellano I, V\u00e1zquez-Costa JF, Aparici F (2021) Ultrasound-guided lumbar puncture for nusinersen administration in spinal muscular atrophy patients. Eur J Neurol 28(2):676\u2013680. https:\/\/doi.org\/10.1111\/ene.14586","journal-title":"Eur J Neurol"},{"issue":"1","key":"13965_CR26","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.nmd.2021.10.009","volume":"32","author":"G Coratti","year":"2022","unstructured":"Coratti G, Carmela Pera M, Montes J et al (2022) Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. Neuromuscul Disord 32(1):36\u201342. https:\/\/doi.org\/10.1016\/j.nmd.2021.10.009","journal-title":"Neuromuscul Disord"},{"key":"13965_CR27","doi-asserted-by":"publisher","first-page":"3666","DOI":"10.1111\/ene.15542","volume":"29","author":"J V\u00e1zquez-Costa","year":"2021","unstructured":"V\u00e1zquez-Costa J, Povedano M, Nascimiento-Osorio A et al (2021) Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy. Eur J Neurol 29:3666\u20133675. https:\/\/doi.org\/10.1111\/ene.15542","journal-title":"Eur J Neurol"},{"issue":"5","key":"13965_CR28","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1002\/mus.25120","volume":"54","author":"S Dunaway Young","year":"2016","unstructured":"Dunaway Young S, Montes J, Kramer SS et al (2016) Six-minute walk test is reliable and valid in spinal muscular atrophy. Muscle Nerve 54(5):836\u2013842. https:\/\/doi.org\/10.1002\/mus.25120","journal-title":"Muscle Nerve"},{"issue":"11","key":"13965_CR29","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1212\/WNL.0000000000201654","volume":"100","author":"G Coratti","year":"2023","unstructured":"Coratti G, Ricci M, Capasso A et al (2023) Prevalence of spinal muscular atrophy in the era of disease-modifying therapies. Neurology 100(11):522\u2013528. https:\/\/doi.org\/10.1212\/WNL.0000000000201654","journal-title":"Neurology"},{"issue":"1","key":"13965_CR30","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","volume":"12","author":"IEC Verhaart","year":"2017","unstructured":"Verhaart IEC, Robertson A, Wilson IJ et al (2017) Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis 12(1):124. https:\/\/doi.org\/10.1186\/s13023-017-0671-8","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"13965_CR31","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1093\/aje\/kwae145","volume":"194","author":"MB Mathur","year":"2024","unstructured":"Mathur MB, Shpitser I (2024) Simple graphical rules for assessing selection bias in general-population and selected-sample treatment effects. Am J Epidemiol 194(1):267\u2013277. https:\/\/doi.org\/10.1093\/aje\/kwae145","journal-title":"Am J Epidemiol"},{"issue":"4","key":"13965_CR32","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0195821","volume":"13","author":"G Logroscino","year":"2018","unstructured":"Logroscino G, Marin B, Piccininni M et al (2018) Referral bias in ALS epidemiological studies. PLoS ONE 13(4):e0195821. https:\/\/doi.org\/10.1371\/journal.pone.0195821","journal-title":"PLoS ONE"},{"key":"13965_CR33","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.ejpn.2022.07.005","volume":"40","author":"A Berglund","year":"2022","unstructured":"Berglund A, Berk\u00f6 S, Lampa E, Sejersen T (2022) Survival in patients diagnosed with SMA at less than 24 months of age in a population-based setting before, during and after introduction of nusinersen therapy. Experience from Sweden. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc 40:57\u201360. https:\/\/doi.org\/10.1016\/j.ejpn.2022.07.005","journal-title":"Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc"},{"issue":"6","key":"13965_CR34","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcac269","volume":"4","author":"FEV Scheijmans","year":"2022","unstructured":"Scheijmans FEV, Cuppen I, van Eijk RPA et al (2022) Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study. Brain Commun 4(6):fcac269. https:\/\/doi.org\/10.1093\/braincomms\/fcac269","journal-title":"Brain Commun"},{"key":"13965_CR35","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.ejpn.2022.06.001","volume":"39","author":"K Kotulska","year":"2022","unstructured":"Kotulska K, Chmielewski D, Mazurkiewicz-Be\u0142dzi\u0144ska M et al (2022) Safety, tolerability, and efficacy of a widely available nusinersen program for polish children with spinal muscular atrophy. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc 39:103\u2013109. https:\/\/doi.org\/10.1016\/j.ejpn.2022.06.001","journal-title":"Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc"},{"key":"13965_CR36","doi-asserted-by":"publisher","DOI":"10.1177\/22143602251385045","author":"SE Matesanz","year":"2025","unstructured":"Matesanz SE, Finkel RS (2025) Real-world evidence on nusinersen treatment of persons with SMA: a focused review. J Neuromuscul Dis. https:\/\/doi.org\/10.1177\/22143602251385045","journal-title":"J Neuromuscul Dis"},{"issue":"1","key":"13965_CR37","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1186\/s13023-022-02547-8","volume":"17","author":"A Pechmann","year":"2022","unstructured":"Pechmann A, Behrens M, D\u00f6rnbrack K et al (2022) Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. Orphanet J Rare Dis 17(1):384. https:\/\/doi.org\/10.1186\/s13023-022-02547-8","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"13965_CR38","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1093\/brain\/awac252","volume":"146","author":"A Pechmann","year":"2023","unstructured":"Pechmann A, Behrens M, D\u00f6rnbrack K et al (2023) Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain 146(2):668\u2013677. https:\/\/doi.org\/10.1093\/brain\/awac252","journal-title":"Brain"},{"key":"13965_CR39","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1186\/s12887-024-05290-0","volume":"25","author":"J Peng","year":"2025","unstructured":"Peng J, Yao X, Luo R et al (2025) Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China. BMC Pediatr 25:239. https:\/\/doi.org\/10.1186\/s12887-024-05290-0","journal-title":"BMC Pediatr"},{"key":"13965_CR40","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/s13023-020-01667-3","volume":"16","author":"A Monnette","year":"2021","unstructured":"Monnette A, Chen E, Hong D et al (2021) Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment. Orphanet J Rare Dis 16:36. https:\/\/doi.org\/10.1186\/s13023-020-01667-3","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"13965_CR41","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1007\/s12325-022-02376-y","volume":"40","author":"D Fox","year":"2023","unstructured":"Fox D, To TM, Seetasith A, Patel AM, Iannaccone ST (2023) Adherence and persistence to nusinersen for spinal muscular atrophy: a US claims-based analysis. Adv Ther 40(3):903\u2013919. https:\/\/doi.org\/10.1007\/s12325-022-02376-y","journal-title":"Adv Ther"},{"issue":"12","key":"13965_CR42","doi-asserted-by":"publisher","first-page":"5809","DOI":"10.1007\/s12325-021-01938-w","volume":"38","author":"M Gauthier-Loiselle","year":"2021","unstructured":"Gauthier-Loiselle M, Cloutier M, Toro W et al (2021) Nusinersen for spinal muscular atrophy in the United States: findings from a retrospective claims database analysis. Adv Ther 38(12):5809\u20135828. https:\/\/doi.org\/10.1007\/s12325-021-01938-w","journal-title":"Adv Ther"},{"issue":"8","key":"13965_CR43","doi-asserted-by":"publisher","first-page":"8","DOI":"10.3390\/jcm12082839","volume":"12","author":"A Belan\u010di\u0107","year":"2023","unstructured":"Belan\u010di\u0107 A, Strbad T, Ku\u010dan \u0160tigli\u0107 M, Vitezi\u0107 D (2023) Effectiveness of nusinersen in type 1, 2 and 3 spinal muscular atrophy: croatian real-world data. J Clin Med 12(8):8. https:\/\/doi.org\/10.3390\/jcm12082839","journal-title":"J Clin Med"},{"issue":"1","key":"13965_CR44","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1017\/cjn.2024.49","volume":"52","author":"I C\u00f4t\u00e9","year":"2025","unstructured":"C\u00f4t\u00e9 I, Hodgkinson V, Nury M, Bastenier-Boutin L, Rodrigue X (2025) A real-world study of nusinersen effects in adults with spinal muscular atrophy type 2 and 3. Can J Neurol Sci J Can Sci Neurol 52(1):119\u2013128. https:\/\/doi.org\/10.1017\/cjn.2024.49","journal-title":"Can J Neurol Sci J Can Sci Neurol"},{"key":"13965_CR45","doi-asserted-by":"publisher","first-page":"1483","DOI":"10.1007\/s40120-024-00653-2","volume":"13","author":"T Hagenacker","year":"2024","unstructured":"Hagenacker T, Maggi L, Coratti G et al (2024) Effectiveness of nusinersen in adolescents and adults with spinal muscular atrophy: systematic review and meta-analysis. Neurol Ther 13:1483\u20131504. https:\/\/doi.org\/10.1007\/s40120-024-00653-2","journal-title":"Neurol Ther"},{"key":"13965_CR46","unstructured":"Finkel RS, Farrar MA, Krosschell KJ (2024). Final safety and efficacy data from the SHINE study in participants with infantile-onset and later-onset SMA."},{"issue":"3","key":"13965_CR47","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1097\/00000542-200609000-00027","volume":"105","author":"CL Wu","year":"2006","unstructured":"Wu CL, Rowlingson AJ, Cohen SR et al (2006) Gender and post-dural puncture headache. Anesthesiology 105(3):613\u2013618. https:\/\/doi.org\/10.1097\/00000542-200609000-00027","journal-title":"Anesthesiology"},{"issue":"4","key":"13965_CR48","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1046\/j.1464-410x.2001.02341.x","volume":"88","author":"A von Gontard","year":"2001","unstructured":"von Gontard A, Laufersweiler-Plass C, Backes M, Zerres K, Rudnik-Sch\u00f6neborn S (2001) Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy. BJU Int 88(4):409\u2013413. https:\/\/doi.org\/10.1046\/j.1464-410x.2001.02341.x","journal-title":"BJU Int"},{"issue":"Suppl 2","key":"13965_CR49","doi-asserted-by":"publisher","first-page":"A48","DOI":"10.1136\/jnnp-2024-ABN.157","volume":"95","author":"D Sarah","year":"2024","unstructured":"Sarah D, Clare G, Sherryl C, Pamela P (2024) Bowel and bladder dysfunction in adults with spinal muscular atrophy: audit of practice. J Neurol Neurosurg Psychiatry 95(Suppl 2):A48\u2013A48. https:\/\/doi.org\/10.1136\/jnnp-2024-ABN.157","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"13965_CR50","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25073810","author":"P Andr\u00e9s-Benito","year":"2024","unstructured":"Andr\u00e9s-Benito P, V\u00e1zquez-Costa JF, Garz\u00f3n NC\u00d1 et al (2024) Neurodegeneration biomarkers in adult spinal muscular atrophy (SMA) patients treated with nusinersen. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms25073810","journal-title":"Int J Mol Sci"},{"issue":"1","key":"13965_CR51","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/s13023-023-03008-6","volume":"19","author":"E Salort-Campana","year":"2024","unstructured":"Salort-Campana E, Sol\u00e9 G, Magot A et al (2024) Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments. Orphanet J Rare Dis 19(1):24. https:\/\/doi.org\/10.1186\/s13023-023-03008-6","journal-title":"Orphanet J Rare Dis"},{"issue":"10","key":"13965_CR52","doi-asserted-by":"publisher","first-page":"2020","DOI":"10.1002\/acn3.70132","volume":"12","author":"JA Parsons","year":"2025","unstructured":"Parsons JA, Land N, Maravic MC et al (2025) Remaining burden of spinal muscular atrophy among treated patients: a survey of patients and caregivers. Ann Clin Transl Neurol 12(10):2020\u20132035. https:\/\/doi.org\/10.1002\/acn3.70132","journal-title":"Ann Clin Transl Neurol"},{"issue":"12","key":"13965_CR53","doi-asserted-by":"publisher","first-page":"3418","DOI":"10.3390\/jcm13123418","volume":"13","author":"C Lilien","year":"2024","unstructured":"Lilien C, Vrscaj E, Thapaliya G et al (2024) Patients\u2019 perceptions of nusinersen effects according to their responder status. J Clin Med 13(12):3418. https:\/\/doi.org\/10.3390\/jcm13123418","journal-title":"J Clin Med"},{"issue":"8","key":"13965_CR54","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16309","volume":"31","author":"G Coratti","year":"2024","unstructured":"Coratti G, Bovis F, Pera MC et al (2024) Determining minimal clinically important differences in the hammersmith functional motor scale expanded for untreated spinal muscular atrophy patients: an international study. Eur J Neurol 31(8):e16309. https:\/\/doi.org\/10.1111\/ene.16309","journal-title":"Eur J Neurol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-13965-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-026-13965-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-13965-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T07:21:21Z","timestamp":1783495281000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-026-13965-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,29]]},"references-count":54,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["13965"],"URL":"https:\/\/doi.org\/10.1007\/s00415-026-13965-0","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,29]]},"assertion":[{"value":"22 April 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 June 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 June 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 June 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"KAG received lecture honoraria from Biogen and Amicus, conference and travel fees from Roche, Amicus, Italfarmaco, PTC Therapeutics. NCNG received conference and travel fees from Roche. IPC received lecture honoraria from Biogen, Roche, Novartis and Scholar Rock. NM, RS, TS, and DH report no conflict of interest related to the present work. JFVC is a member of the advisory board of CUIDAME and has received personal fees from Biogen, Roche, Novartis and Scholar Rock outside the submitted work.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"His study was approved by the Ethics Committee for Biomedical Research of La Fe Hospital (Valencia, Spain) 2019\u2013027-1 and all participants provided informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"430"}}