{"id":"https://openalex.org/W7225061908","doi":"https://doi.org/10.65034/anpabstract_cbn261521","title":"Therapeutic impact of nusinersen in an adult with type 2 spinal muscular atrophy","display_name":"Therapeutic impact of nusinersen in an adult with type 2 spinal muscular atrophy","publication_year":2026,"publication_date":"2026-10-07","ids":{"openalex":"https://openalex.org/W7225061908","doi":"https://doi.org/10.65034/anpabstract_cbn261521"},"language":"en","primary_location":{"id":"doi:10.65034/anpabstract_cbn261521","doi":"https://doi.org/10.65034/anpabstract_cbn261521","is_oa":true,"landing_page_url":"https://doi.org/10.65034/anpabstract_cbn261521","pdf_url":"https://www.arquivosdeneuropsiquiatria.org/wp-content/uploads/2026/10/10.65034_ANPAbstract_CBN261521.pdf","source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"ANPAbstract_CBN26","raw_type":"proceedings-article"},"parent_works":[],"lineage":["https://openalex.org/W7225061908"],"child_works_count":0,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.arquivosdeneuropsiquiatria.org/wp-content/uploads/2026/10/10.65034_ANPAbstract_CBN261521.pdf","any_repository_has_fulltext":null},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5160291760","display_name":"Alberico Rocha Lima Neto","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alb\u00e9rico Rocha Lima Neto","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108887806","display_name":"Heloise Helena Siqueira Borges","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Heloise Helena Siqueira Borges","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160284998","display_name":"Alexandre Barros Silva Barros Silva","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexandre Barro Silva","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5116393497","display_name":"Laura Giovanna Miranda Noceti","orcid":"https://orcid.org/0009-0005-5889-2392","observed_orcids":["https://orcid.org/0009-0005-5889-2392"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Laura Giovanna Miranda Noceti","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053315314","display_name":"Denis Silva Nogueira","orcid":"https://orcid.org/0000-0001-8893-7903","observed_orcids":["https://orcid.org/0000-0001-8893-7903"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Denis da Silva Nogueira","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056308769","display_name":"Hingrid Cristine Arruda de Oliveira","orcid":"https://orcid.org/0009-0005-9198-6008","observed_orcids":["https://orcid.org/0009-0005-9198-6008"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hingrid Cristine Arruda Oliveira","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160284408","display_name":"Rafella Resplande Xavier","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rafella Resplande Xavier","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160312534","display_name":"Carolina Henriques Lorraine DIas","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carolina Henriques Lorraine DIas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160289313","display_name":"Eduardo Puerari","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eduardo Puerari","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5160313932","display_name":"Beatriz Fulador Maciel","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Beatriz Fulador Maciel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"S1521","last_page":"S1521"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/spinal-muscular-atrophy-type-ii","display_name":"spinal muscular atrophy type 2","score":0.8949999809265137},{"id":"https://openalex.org/keywords/nusinersen","display_name":"nusinersen","score":0.9929999709129333},{"id":"https://openalex.org/keywords/adult-onset-spinal-muscular-atrophy","display_name":"adult-onset spinal muscular atrophy","score":0.8119999766349792},{"id":"https://openalex.org/keywords/smn1-gene-deletion","display_name":"SMN1 gene deletion","score":0.7739999890327454},{"id":"https://openalex.org/keywords/smn2","display_name":"SMN2","score":0.5640000104904175},{"id":"https://openalex.org/keywords/intrathecal-gene-therapy","display_name":"intrathecal gene therapy","score":0.7870000004768372},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.8230000138282776},{"id":"https://openalex.org/keywords/dysphagia","display_name":"dysphagia","score":0.8500000238418579},{"id":"https://openalex.org/keywords/dyspnea","display_name":"dyspnea","score":0.8970000147819519},{"id":"https://openalex.org/keywords/bulbar-function","display_name":"bulbar function","score":0.8100000023841858},{"id":"https://openalex.org/keywords/functional-recovery","display_name":"functional recovery","score":0.7049999833106995},{"id":"https://openalex.org/keywords/motor-neuron-disease","display_name":"motor neuron disease","score":0.5460000038146973},{"id":"https://openalex.org/keywords/quality-of-life","display_name":"quality of life","score":0.7120000123977661},{"id":"https://openalex.org/keywords/early-diagnosis","display_name":"early diagnosis","score":0.3720000088214874},{"id":"https://openalex.org/keywords/mato-grosso","display_name":"Mato Grosso","score":0.6179999709129333},{"id":"https://openalex.org/keywords/rural-population","display_name":"rural population","score":0.34200000762939453},{"id":"https://openalex.org/keywords/work-disability","display_name":"work disability","score":0.37299999594688416}],"concepts":[{"id":"https://openalex.org/C2778045022","wikidata":"https://www.wikidata.org/wiki/Q18031604","display_name":"SMN1","level":4,"score":0.8618000149726868},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8288999795913696},{"id":"https://openalex.org/C161921814","wikidata":"https://www.wikidata.org/wiki/Q493743","display_name":"SMA*","level":2,"score":0.7774999737739563},{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.7498999834060669},{"id":"https://openalex.org/C2780596822","wikidata":"https://www.wikidata.org/wiki/Q623289","display_name":"Dysphagia","level":2,"score":0.6614999771118164},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.43050000071525574},{"id":"https://openalex.org/C2779354088","wikidata":"https://www.wikidata.org/wiki/Q15467261","display_name":"Degeneration (medical)","level":2,"score":0.4221000075340271},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.4034999907016754},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3901999890804291},{"id":"https://openalex.org/C2781338923","wikidata":"https://www.wikidata.org/wiki/Q677449","display_name":"Aspiration pneumonia","level":3,"score":0.37139999866485596},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.37040001153945923},{"id":"https://openalex.org/C2776356578","wikidata":"https://www.wikidata.org/wiki/Q2246789","display_name":"Neuromuscular disease","level":3,"score":0.36489999294281006},{"id":"https://openalex.org/C2776263037","wikidata":"https://www.wikidata.org/wiki/Q1557686","display_name":"Muscle atrophy","level":3,"score":0.36309999227523804},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.32409998774528503},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.32260000705718994},{"id":"https://openalex.org/C127607297","wikidata":"https://www.wikidata.org/wiki/Q11602751","display_name":"Muscle contracture","level":2,"score":0.32190001010894775},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.30230000615119934},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.28450000286102295},{"id":"https://openalex.org/C2778334475","wikidata":"https://www.wikidata.org/wiki/Q1415275","display_name":"Spinal cord injury","level":3,"score":0.2842999994754791},{"id":"https://openalex.org/C2779281540","wikidata":"https://www.wikidata.org/wiki/Q5062122","display_name":"Central nervous system disease","level":2,"score":0.2791999876499176},{"id":"https://openalex.org/C2777914695","wikidata":"https://www.wikidata.org/wiki/Q12192","display_name":"Pneumonia","level":2,"score":0.2630000114440918},{"id":"https://openalex.org/C2993086047","wikidata":"https://www.wikidata.org/wiki/Q1415275","display_name":"Spinal injury","level":4,"score":0.2540999948978424},{"id":"https://openalex.org/C2779618896","wikidata":"https://www.wikidata.org/wiki/Q107231","display_name":"Paralysis","level":2,"score":0.2522999942302704},{"id":"https://openalex.org/C2778818304","wikidata":"https://www.wikidata.org/wiki/Q1819478","display_name":"Rehabilitation","level":2,"score":0.25130000710487366}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.65034/anpabstract_cbn261521","doi":"https://doi.org/10.65034/anpabstract_cbn261521","is_oa":true,"landing_page_url":"https://doi.org/10.65034/anpabstract_cbn261521","pdf_url":"https://www.arquivosdeneuropsiquiatria.org/wp-content/uploads/2026/10/10.65034_ANPAbstract_CBN261521.pdf","source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"ANPAbstract_CBN26","raw_type":"proceedings-article"}],"best_oa_location":{"id":"doi:10.65034/anpabstract_cbn261521","doi":"https://doi.org/10.65034/anpabstract_cbn261521","is_oa":true,"landing_page_url":"https://doi.org/10.65034/anpabstract_cbn261521","pdf_url":"https://www.arquivosdeneuropsiquiatria.org/wp-content/uploads/2026/10/10.65034_ANPAbstract_CBN261521.pdf","source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"ANPAbstract_CBN26","raw_type":"proceedings-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225061908.pdf"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4386279076","https://openalex.org/W3043321727","https://openalex.org/W2961223672","https://openalex.org/W4389366626","https://openalex.org/W2805008652","https://openalex.org/W2990348759","https://openalex.org/W3119045900","https://openalex.org/W4389373844","https://openalex.org/W4416580250","https://openalex.org/W3042893509"],"abstract_inverted_index":{"Case":[0],"Presentation:":[1],"Male":[2],"patient,":[3],"39":[4],"years":[5],"old,":[6],"from":[7],"the":[8,115,152,162,182,185,201,213,230,235,254,269,272,319,322,358,374,394,399,418,429,435],"rural":[9],"area":[10],"of":[11,17,44,114,121,172,184,238,256,271,297,309,321,324,342,360,386,396,420,431,437],"Mato":[12],"Grosso,":[13],"with":[14,65,124,129,181,210,249,411],"a":[15,34,66,77,83,111,170,223,250,265,335,381],"history":[16],"delayed":[18],"motor":[19,84,239],"milestones":[20],"since":[21],"childhood,":[22],"never":[23],"having":[24],"achieved":[25],"independent":[26],"walking.":[27],"Despite":[28],"seeking":[29],"early":[30,361],"care,":[31],"there":[32,168,262,300],"was":[33,49,131,159,169,194,243],"diagnostic":[35,345],"delay":[36],"due":[37,147],"to":[38,103,148,187,190,208,234,353,366],"negligent":[39],"expectant":[40],"management.":[41],"The":[42,307,344],"diagnosis":[43,362,383],"spinal":[45],"muscular":[46],"atrophy":[47],"(SMA)":[48],"established":[50],"at":[51,398],"age":[52],"11,":[53],"in":[54,82,92,99,133,137,157,165,197,200,212,229,247,268,284,287,334,338,348,377,380,408,440],"1995,":[55],"via":[56,141],"muscle":[57],"biopsy.":[58],"He":[59,87],"showed":[60,110],"good":[61],"cognitive":[62],"development,":[63],"graduating":[64],"law":[67],"degree,":[68],"but":[69],"experienced":[70],"progressive":[71,236],"weakness.":[72],"In":[73,106,415],"2011,":[74],"he":[75],"suffered":[76],"right":[78],"upper":[79,203],"limb":[80,204],"trauma":[81],"vehicle":[85],"accident.":[86],"developed":[88],"recurrent":[89],"pneumonia":[90],"and,":[91],"2018,":[93],"began":[94],"experiencing":[95],"dysphagia":[96,173],"and":[97,118,174,216,281,326,340,363,384,425],"dyspnea":[98],"lateral":[100],"decubitus,":[101],"leading":[102,233],"work":[104],"disability.":[105],"2021,":[107],"genetic":[108],"confirmation":[109],"homozygous":[112],"deletion":[113],"SMN1":[116,231],"gene":[117],"three":[119],"copies":[120],"SMN2,":[122],"compatible":[123],"SMA":[125,221,412],"type":[126,413],"2.":[127,414],"Treatment":[128],"nusinersen":[130],"initiated":[132],"March":[134],"2025,":[135,167],"initially":[136],"an":[138,155,195],"operating":[139],"room":[140],"intrathecal":[142],"administration,":[143],"assisted":[144],"by":[145,227],"ultrasound":[146],"significant":[149,266,336,404],"scoliosis.":[150],"After":[151,161],"second":[153],"infusion,":[154],"improvement":[156,196,308],"fatigue":[158],"observed.":[160],"fourth":[163],"dose,":[164],"September":[166],"resolution":[171],"dyspnea,":[175],"as":[176,178,260,315],"well":[177],"functional":[179,330,426],"recovery,":[180],"return":[183],"ability":[186],"bring":[188],"food":[189],"his":[191],"mouth.":[192],"There":[193],"distal":[198],"strength":[199],"left":[202],"(from":[205],"grade":[206],"3":[207],"4-),":[209],"progress":[211],"HFMSE":[214],"(2/7)":[215],"RULM":[217],"(5/18)":[218],"scales.":[219],"Discussion:":[220],"is":[222,301,312],"neuromuscular":[224],"disease":[225,298],"caused":[226],"mutations":[228],"gene,":[232],"degeneration":[237],"neurons.":[240],"Historically,":[241],"management":[242],"purely":[244],"supportive,":[245],"especially":[246,286,422],"patients":[248,280,410],"late":[251,382,432],"diagnosis.":[252],"With":[253],"advent":[255],"modifying":[257],"therapies":[258],"such":[259],"nusinersen,":[261],"has":[263],"been":[264,391],"change":[267],"course":[270],"disease.":[273],"However,":[274],"most":[275],"evidence":[276],"focuses":[277],"on":[278],"pediatric":[279],"remains":[282],"limited":[283],"adults,":[285],"advanced":[288],"stages.":[289],"This":[290,370],"case":[291,371],"highlights":[292],"that,":[293],"even":[294,407],"after":[295],"decades":[296],"progression,":[299],"potential":[302],"for":[303],"relevant":[304],"clinical":[305,405],"benefit.":[306],"bulbar":[310,423],"functions":[311],"particularly":[313],"important,":[314],"it":[316],"directly":[317],"impacts":[318],"reduction":[320],"risk":[323],"aspiration":[325],"respiratory":[327],"complications.":[328],"Furthermore,":[329],"gains":[331],"can":[332,402],"result":[333],"increase":[337],"autonomy":[339],"quality":[341],"life.":[343],"delay,":[346],"common":[347],"previous":[349],"decades,":[350],"possibly":[351],"contributed":[352],"greater":[354],"neuronal":[355],"loss,":[356],"emphasizing":[357],"importance":[359],"timely":[364],"access":[365],"therapies.":[367],"Final":[368],"Comments:":[369],"demonstrates":[372],"that":[373,388],"approach":[375],"used":[376],"childhood":[378],"resulted":[379],"progression":[385],"damage":[387],"could":[389],"have":[390],"mitigated,":[392],"despite":[393],"absence":[395],"treatment":[397],"time.":[400],"Nusinersen":[401],"provide":[403],"benefits":[406],"adult":[409],"this":[416],"report,":[417],"stabilization":[419],"symptoms,":[421],"functions,":[424],"recovery":[427],"reinforce":[428],"relevance":[430],"treatment,":[433],"challenging":[434],"view":[436],"complete":[438],"irreversibility":[439],"these":[441],"cases.":[442]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-11-02T00:00:00"}