{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:26:29Z","timestamp":1789424789411,"version":"build-2803163510"},"reference-count":54,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2023,4,5]],"date-time":"2023-04-05T00:00:00Z","timestamp":1680652800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2023,7,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Three therapeutic strategies have radically changed the therapeutic scenario for spinal muscular atrophy (SMA). However, therapeutic response differs between individuals. There is a need to identify biomarkers to further assess therapeutic response and to better understand which variables determine the extent of response.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We conducted a study using an optimized digital droplet PCR-based method for the ultra-sensitive detection of SMN transcript in serum EVs from SMA 2 individuals treated with nusinersen over 14 months. In parallel, we investigated levels of serum and CSF neurofilament heavy chain (pNF-H) in the same cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Expression of flSMN transcript in EVs of SMA 2 individuals prior to nusinersen was lower than in controls (0.40 vs 2.79 copies\/ul; p\u200a&lt;\u200a0.05) and increased after 14 months of nusinersen (0.40 vs 1.11 copies\/ul; p\u200a&lt;\u200a0.05). The increase in flSMN with nusinersen was significantly higher in younger individuals ( p\u200a&lt;\u200a0.05). Serum pNF-h was higher in non-treated individuals with SMA 2 than in controls (230.72 vs 22.88 pg\/ml; p\u200a&lt;\u200a0.05) and decreased with nusinersen (45.72 pg\/ml at 6 months, 39.02 pg\/ml at 14 months). CSF pNF-h in SMA 2 individuals also decreased with nusinersen (248.04 pg\/ml prior to treatment, 197.10 pg\/dl at 2 months, 104.43 pg\/dl at 6 months, 131.03 pg\/dl at 14 months).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>We identified an increase of flSMN transcript in serum EVs of SMA 2 individuals treated with nusinersen that was more pronounced in the younger individuals. Our results indicate that flSMN transcript expression in serum EVs is a possible biomarker in SMA to predict or monitor the response to treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230012","type":"journal-article","created":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T11:41:22Z","timestamp":1680867682000},"page":"653-665","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":12,"title":["Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1807-9621","authenticated-orcid":false,"given":"Selena","family":"Trifunov","sequence":"first","affiliation":[{"name":"Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Biomedical Network Research Centre on Rare 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