{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T16:19:25Z","timestamp":1762791565511,"version":"build-2065373602"},"reference-count":30,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T00:00:00Z","timestamp":1754352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171453","81671297"],"award-info":[{"award-number":["82171453","81671297"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To characterise spinal muscular atrophy (SMA) phenotypes, genetic profiles, and nusinersen efficacy in China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In 133 SMA patients (age 6.38\u2009\u00b1\u20093.66\u2009years), SMN1 mutations and SMN2 copy numbers were analysed by MLPA and sequencing. Motor function was longitudinally assessed using subtype\u2010specific scales (CHOP\u2010INTEND\/HFMSE\/RULM\/6MWT) at baseline, 6, and 12\u2009months post\u2010nusinersen.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Cohort distribution: type I 31.6% (42\/133), II 42.1% (56\/133), III 26.3% (35\/133). Genetic profiling identified: SMN1 exon7\u2009+\u20098 deletions (81.2%, 108\/133); exon7\u2010only deletions (15.0%, 20\/133); and a novel c.884A&gt;T; c.22dup mutation (0.8%). SMN2 copy number inversely correlated with clinical severity (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). At 12\u2009months, type I patients showed CHOP\u2010INTEND improvement from 22.0\u2009\u00b1\u200910.7 to 34.4\u2009\u00b1\u200914.9 (\u039412.4\u2009\u00b1\u20098.7; all \u0394\u2009\u2265\u20095); type II demonstrated HFMSE \u03943.6\u2009\u00b1\u20093.4 and RULM \u03943.4\u2009\u00b1\u20092.1 (1 ambulation milestone); type III exhibited 6MWT gains of 48.8\u2009\u00b1\u200935.1\u2009m (\u0394range 6.0\u2013119.8) with concurrent RULM\/HFMSE improvements.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Nusinersen elicited clinically significant motor improvements across SMA subtypes, demonstrating the strongest functional gains in type I (56.4% CHOP\u2010INTEND improvement). We report for the first time a rare case of SMN1 compound heterozygous double\u2010site mutations (c.884A&gt;T; c.22dup).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/apa.70263","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T11:28:52Z","timestamp":1754393332000},"page":"3325-3331","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Characteristics, Genotypes, and Treatment Outcomes in 133 Patients With Spinal Muscular Atrophy: A Retrospective Cohort"],"prefix":"10.1111","volume":"114","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-1084-6180","authenticated-orcid":false,"given":"Siyi","family":"Gan","sequence":"first","affiliation":[{"name":"Neurology Department, Hunan Children's Hospital, Children's Hospital, Xiangya Medical School Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Xu","sequence":"additional","affiliation":[{"name":"Neurology Department, Hunan Children's Hospital, Children's Hospital, Xiangya Medical School Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Yang","sequence":"additional","affiliation":[{"name":"Neurology Department, Hunan Children's Hospital, Children's Hospital, Xiangya Medical School Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liwen","family":"Wu","sequence":"additional","affiliation":[{"name":"Neurology Department, Hunan Children's Hospital, Children's Hospital, Xiangya Medical School Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.030148"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcaa075"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-71"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40273-021-01105-7"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305673"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-022-00380-8"},{"issue":"9","key":"e_1_2_11_10_1","article-title":"Nusinersen Treatment of Spinal Muscular Atrophy\u2014A Systematic Review","volume":"67","author":"Albrechtsen S. S.","year":"2020","journal-title":"Danish Medical Journal"},{"issue":"2","key":"e_1_2_11_11_1","article-title":"Risdiplam for the Use of Spinal Muscular Atrophy","volume":"13","author":"Kakazu J.","year":"2021","journal-title":"Orthopaedic Reviews"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1702752"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-024-03101-7"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-020-01410-z"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.05.009"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25430"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25120"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02769-4"},{"key":"e_1_2_11_19_1","first-page":"1","article-title":"Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy","volume":"5","author":"Bai J. L.","year":"2020","journal-title":"Journal of Molecular Neuroscience"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.16"},{"issue":"40","key":"e_1_2_11_21_1","first-page":"3130","article-title":"Expert Consensus on Genetic Diagnosis of Spinal Muscular Atrophy","volume":"100","author":"Beijing Medical Association Medical Genetics Branch, Beijing Rare Disease Diagnosis & Treatment and Protection Association","year":"2020","journal-title":"National Medical Journal of China"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30251"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0671-8"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.03.001"},{"issue":"01","key":"e_1_2_11_25_1","first-page":"S1","article-title":"Efficacy and Safety of Nusinersen in Children With Later\u2010Onset Spinal Muscular Atrophy (SMA): Results of the Phase 3 Cherish Study","volume":"48","author":"Kirschner J.","year":"2017","journal-title":"Neuropediatrics"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.007"},{"issue":"8","key":"e_1_2_11_27_1","first-page":"2398","article-title":"Nusinersen in Adults With 5q Spinal Muscular Atrophy: A Non\u2010Interventional, Multicentre, Observational Cohort Study","volume":"267","author":"Hagenacker T.","year":"2020","journal-title":"Journal of Neurology"},{"issue":"6","key":"e_1_2_11_28_1","first-page":"58","article-title":"Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience","volume":"61","author":"Hache M.","year":"2016","journal-title":"Paediatric Neurology"},{"issue":"3","key":"e_1_2_11_29_1","first-page":"299","article-title":"Diverse Role of Survival Motor Neuron Protein","volume":"1860","author":"Singh R. 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