{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T18:09:09Z","timestamp":1790100549629,"version":"4.0.1"},"reference-count":55,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin\u20106 (IL\u20106) has been proposed as a candidate biomarker, but longitudinal validation is limited.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We analyzed pooled data from two prospective longitudinal cohorts: CTRN\u2010FSHD France (NCT04038138) and Cytokine FSHD (NCT04694456), each comprising 30 genetically confirmed ambulant FSHD1 patients. Serum IL\u20106 levels and clinical assessments were collected at baseline (M0), 12\u2009months (M12), and 18\u2009months (M18); whole\u2010body muscle MRI (T1\u2010weighted and STIR sequences) was obtained at M0 and M12. Associations between IL\u20106 levels and clinical severity scores, functional measures, and MRI\u2010derived muscle composition were evaluated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Serum IL\u20106 levels correlated significantly with clinical severity metrics, including Clinical Severity Score, 6\u2010Minute Walk Test, Manual Muscle Testing, and Motor Function Measure Domain 1 at all time points. Higher IL\u20106 levels were associated with increased muscle fat infiltration and free water content compatible with muscle edema on MRI. Longitudinal analyses showed that increases in IL\u20106 over 12\u2009months were significantly correlated with changes in T1 (fat infiltration) and STIR (muscle edema) composite scores, reflecting structural and inflammatory disease progression.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>These findings validate IL\u20106 as a biomarker of FSHD1 severity and underscore its potential as an activity and progression biomarker. The correlation between IL\u20106, clinical scores, and MRI\u2010based muscle composition changes highlights its potential utility for monitoring disease evolution and evaluating therapeutic responses in FSHD1 patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70210","type":"journal-article","created":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T05:40:16Z","timestamp":1759902016000},"page":"310-323","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Interleukin\u20106 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0882-4472","authenticated-orcid":false,"given":"Jonathan","family":"Pini","sequence":"first","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Martinuzzi","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cellular Pharmacology University Cote d'Azur, CNRS, Inserm  Valbonne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Dhifallah","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abderhmane","family":"Slioui","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Puma","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Villa","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Cavalli","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andra","family":"Ezaru","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00e9my","family":"Garcia","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Gambella","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Torre","sequence":"additional","affiliation":[{"name":"Princess Grace Hospital Center  Monaco Monaco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca Jacopo","family":"Pavan","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology Nice University Hospital, Pasteur 2 Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Glaichenhaus","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cellular Pharmacology University Cote d'Azur, CNRS, Inserm  Valbonne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0246-1455","authenticated-orcid":false,"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[{"name":"Peripheral Nervous System and Muscle Department Nice University Hospital, Pasteur 2 Hospital  Nice France"},{"name":"University Cote d'Azur, Inserm, CNRS, Institute for Research on Cancer and Aging of Nice (IRCAN)  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01158.x"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000797"},{"key":"e_1_2_12_4_1","volume-title":"Facioscapulohumeral Disease","author":"Padberg G. 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