{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T00:03:21Z","timestamp":1784333001617,"version":"3.55.0"},"reference-count":31,"publisher":"Georg Thieme Verlag KG","issue":"05","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"vor","delay-in-days":77,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Spinal muscular atrophy (SMA) is a progressive, autosomal recessive motor neuron disorder caused by mutations in the SMN1 gene. While clinical trials in type-I and -II SMA led to the approval of nusinersen for all SMA types, evidence on its long-term efficacy and safety in type-III patients is still scarce.<\/jats:p>\n                  <jats:p>The present study investigated treatment responses in SMA type-III patients subjected to nusinersen therapy.<\/jats:p>\n                  <jats:p>Pediatric and adult patients with genetically confirmed 5q SMA type III on nusinersen treatment for at least 12 months were included in the current retrospective study. We collected data on demographics, genetics, nutritional status, swallowing function, and adverse events associated with nusinersen treatment. Motor function was assessed in all patients using the Hammersmith Functional Motor Scale-Expanded (HFMSE), and respiratory function was evaluated through forced vital capacity in patients aged 6 and older.<\/jats:p>\n                  <jats:p>Nineteen patients (12 males; 63.2%) were included in the study. Most patients (94.7%) had a homozygous SMN1 exon 7 deletion, and 63.2% had 3 SMN2 copies. At baseline, 68.4% of patients were ambulant, 21.1% had scoliosis, and 36.8% had lower limb deformities. One patient required non-invasive ventilation, which was discontinued after treatment with nusinersen. Hammersmith Functional Motor Scale-Expanded scores improved in 94.7% of patients after 12 months of treatment, with gains of 1 to 9 points (mean 4.0 points; p\u2009&lt;\u20090.001). Adverse events were mild and resolved within 24\u2009hours.<\/jats:p>\n                  <jats:p>Nusinersen was well tolerated and improved motor function in SMA type-III patients, supporting its potential benefits in real-world settings.<\/jats:p>","DOI":"10.1055\/s-0046-1824578","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T23:20:41Z","timestamp":1784330441000},"page":"001-008","source":"Crossref","is-referenced-by-count":0,"title":["Nusinersen for type-III spinal muscular atrophy: a 12-month retrospective study in a Brazilian cohort"],"prefix":"10.1055","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1641-9386","authenticated-orcid":false,"given":"Vanessa","family":"Van Der Linden","sequence":"additional","affiliation":[{"name":"Hospital Maria Lucinda, Servi\u00e7o de Refer\u00eancia em Doen\u00e7as Raras (Rarus), Recife PE, Brazil."},{"name":"Hospital Bar\u00e3o de Lucena, Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9181-0209","authenticated-orcid":false,"given":"Alessandra Paula de Melo","family":"Calado","sequence":"additional","affiliation":[{"name":"Hospital Maria Lucinda, Servi\u00e7o de Refer\u00eancia em Doen\u00e7as Raras (Rarus), Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-4582-2780","authenticated-orcid":false,"given":"Gabriela","family":"Van Der Linden","sequence":"additional","affiliation":[{"name":"Centro Universit\u00e1rio Maur\u00edcio de Nassau (Uninassau), Escola de Medicina, Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6436-6671","authenticated-orcid":false,"given":"Jo\u00e3o Vitor Duque Porto","family":"Valen\u00e7a","sequence":"additional","affiliation":[{"name":"Faculdade Pernambucana de Sa\u00fade, Escola de Medicina, Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9175-6541","authenticated-orcid":false,"given":"Mateus Alves","family":"Garrido","sequence":"additional","affiliation":[{"name":"Centro Universit\u00e1rio Maur\u00edcio de Nassau (Uninassau), Escola de Medicina, Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8941-9873","authenticated-orcid":false,"given":"Karina L\u00facia Soares de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Hospital Maria Lucinda, Servi\u00e7o de Refer\u00eancia em Doen\u00e7as Raras (Rarus), Recife PE, Brazil."},{"name":"Universidade Federal de Pernambuco, Hospital das Cl\u00ednicas, Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3664-7562","authenticated-orcid":false,"given":"Marcelo Soares","family":"Kerstenetzky","sequence":"additional","affiliation":[{"name":"Hospital Maria Lucinda, Servi\u00e7o de Refer\u00eancia em Doen\u00e7as Raras (Rarus), Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9184-174X","authenticated-orcid":false,"given":"Thiago","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Hospital Maria Lucinda, Servi\u00e7o de Refer\u00eancia em Doen\u00e7as Raras (Rarus), Recife PE, Brazil."},{"name":"Universidade Federal de Pernambuco, Hospital das Cl\u00ednicas, Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,7,17]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1055\/s-0044-1779503","article-title":"Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy","volume":"82","author":"E Zanoteli","year":"2024","journal-title":"Arq Neuropsiquiatr"},{"issue":"01","key":"ref2","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"S Lefebvre","year":"1995","journal-title":"Cell"},{"issue":"03","key":"ref3","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.ajhg.2009.08.002","article-title":"A positive modifier of spinal muscular atrophy in the SMN2 gene","volume":"85","author":"T W Prior","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"03","key":"ref4","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"M Calucho","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"S23","DOI":"10.1016\/S0929-693X(20)30273-6","article-title":"Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)","volume":"27","author":"E Salort-Campana","year":"2020","journal-title":"Arch Pediatr"},{"issue":"06","key":"ref6","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1016\/j.ejpn.2013.04.004","article-title":"Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3","volume":"17","author":"S Khirani","year":"2013","journal-title":"Eur J Paediatr Neurol"},{"issue":"01","key":"ref7","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1186\/s13023-020-01367-y","article-title":"Natural history of lung function in spinal muscular atrophy","volume":"15","author":"C A Wijngaarde","year":"2020","journal-title":"Orphanet J Rare 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intrathecal use","author":"United States Food and Drug Administration (US FDA)","year":"2016"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1016\/j.nmd.2007.05.009","article-title":"An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients","volume":"17","author":"J M O'Hagen","year":"2007","journal-title":"Neuromuscul Disord"},{"issue":"05","key":"ref14","doi-asserted-by":"publisher","first-page":"847","DOI":"10.3233\/JND-230011","article-title":"Sex Difference in Spinal Muscular Atrophy Patients - are Males More Vulnerable?","volume":"10","author":"J Sun","year":"2023","journal-title":"J Neuromuscul Dis"},{"issue":"08","key":"ref15","doi-asserted-by":"publisher","first-page":"1622","DOI":"10.1002\/acn3.51411","article-title":"Nusinersen in pediatric and adult patients with type III spinal muscular atrophy","volume":"8","author":"M C Pera","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"issue":"12","key":"ref16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1055\/s-0044-1792096","article-title":"A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care","volume":"82","author":"R H Mendon\u00e7a","year":"2024","journal-title":"Arq Neuropsiquiatr"},{"issue":"06","key":"ref17","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/j.nmd.2021.03.002","article-title":"Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay","volume":"31","author":"Y Cao","year":"2021","journal-title":"Neuromuscul Disord"},{"issue":"04","key":"ref18","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1016\/j.pediatrneurol.2015.06.002","article-title":"Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review","volume":"53","author":"C-W Lin","year":"2015","journal-title":"Pediatr 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Aldukain","year":"2024","journal-title":"J Clin Med"},{"issue":"01","key":"ref22","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1055\/a-2379-7069","article-title":"Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center","volume":"56","author":"M Gaboli","year":"2025","journal-title":"Neuropediatrics"},{"issue":"08","key":"ref23","doi-asserted-by":"publisher","first-page":"946","DOI":"10.1177\/0883073807305673","article-title":"Spinal muscular atrophy: clinical classification and disease heterogeneity","volume":"22","author":"B S Russman","year":"2007","journal-title":"J Child Neurol"},{"issue":"02","key":"ref24","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1002\/mus.26769","article-title":"Nusinersen for older patients with spinal muscular atrophy: A real-world clinical setting experience","volume":"61","author":"A Veerapandiyan","year":"2020","journal-title":"Muscle 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A 4-year prospective, multicenter, longitudinal study (168 cases)]","volume":"189","author":"A Barois","year":"2005","journal-title":"Bull Acad Natl Med"},{"issue":"03","key":"ref31","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1002\/mus.880060302","article-title":"Spinal muscular atrophy: the natural course of disease","volume":"6","author":"B S Russman","year":"1983","journal-title":"Muscle Nerve"},{"issue":"05","key":"ref32","doi-asserted-by":"publisher","first-page":"1483","DOI":"10.1007\/s40120-024-00653-2","article-title":"Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta-analysis","volume":"13","author":"T Hagenacker","year":"2024","journal-title":"Neurol Ther"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0046-1824578.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T23:20:42Z","timestamp":1784330442000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0046-1824578"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":31,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2026,3,11]]},"published-print":{"date-parts":[[2026,5]]}},"alternative-id":["s00461824578"],"URL":"https:\/\/doi.org\/10.1055\/s-0046-1824578","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0004-282X","1678-4227"],"issn-type":[{"value":"0004-282X","type":"print"},{"value":"1678-4227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]}}}