{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T23:14:44Z","timestamp":1773098084321,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T00:00:00Z","timestamp":1766707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T00:00:00Z","timestamp":1766707200000},"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":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,4]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction\/Aims<\/jats:title>\n Dropped head syndrome (DHS) is common in advanced stages of amyotrophic lateral sclerosis (ALS), but infrequently reported among the early symptoms. We explored the frequency of DHS in a genetic ALS cohort harboring pathogenic variants to determine whether DHS is a prognostic factor for survival, particularly when appearing at an early stage.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We collected the following variables to investigate a phenotype\/genotype correlation: pathogenic variant (\n PV<\/jats:styled-content>\n ), sex, age at clinical\n ALS<\/jats:styled-content>\n onset, time between\n ALS<\/jats:styled-content>\n onset and\n DHS<\/jats:styled-content>\n onset, and between\n DHS<\/jats:styled-content>\n onset and death.\n DHS<\/jats:styled-content>\n appearing within 12\u2009months of clinical onset was classified as early\n DHS<\/jats:styled-content>\n (EDHS); otherwise, as late\n DHS<\/jats:styled-content>\n (\n LDHS<\/jats:styled-content>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We observed\n DHS<\/jats:styled-content>\n in 62 of 93 patients with genetic\n ALS<\/jats:styled-content>\n , with a median of 26.5\u2009months between\n ALS<\/jats:styled-content>\n clinical onset and identification of\n DHS<\/jats:styled-content>\n .\n DHS<\/jats:styled-content>\n was present in 72.1% of the 43 patients with\n C9orf72<\/jats:italic>\n expansions, 52.9% of the 34 with\n \n SOD1<\/jats:italic>\n <\/jats:styled-content>\n , 100% of the 10 with\n \n FUS<\/jats:styled-content>\n \/\n TLS<\/jats:styled-content>\n ,\n <\/jats:italic>\n and 50% of the 6 with other\n ALS<\/jats:styled-content>\n gene\n PVs<\/jats:styled-content>\n .\n EDHS<\/jats:styled-content>\n appeared in 16 patients. Ten\n EDHS<\/jats:styled-content>\n patients were\n C9orf72<\/jats:italic>\n , and six were\n \n FUS<\/jats:styled-content>\n \/\n TLS<\/jats:styled-content>\n <\/jats:italic>\n .\n DHS<\/jats:styled-content>\n was a significant factor for survival in the age\u2010adjusted Cox regression model. The hazard ratio was 11.63 times higher for patients with\n DHS<\/jats:styled-content>\n , with age as a concomitant variable.\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n \n Our results suggest that\n DHS<\/jats:styled-content>\n is more prevalent in patients with\n C9orf72<\/jats:italic>\n and\n \n FUS<\/jats:styled-content>\n \/\n TLS<\/jats:styled-content>\n <\/jats:italic>\n than in those with\n \n SOD1<\/jats:italic>\n <\/jats:styled-content>\n and other\n ALS<\/jats:styled-content>\n \u2010linked genes, and a risk factor for short survival, especially when appearing within 12\u2009months of\n ALS<\/jats:styled-content>\n onset.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mus.70126","type":"journal-article","created":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T09:27:07Z","timestamp":1766741227000},"page":"551-558","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Early Dropped Head Syndrome Is More Prevalent in\n C9orf72<\/i>\n and\n FUS\/TLS<\/i>\n ALS<\/scp>"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3127-7486","authenticated-orcid":false,"given":"Josep","family":"Gamez","sequence":"first","affiliation":[{"name":"Department of Neurology GMA Clinic, Hospital Universitari General de Catalunya Barcelona Spain"},{"name":"European Reference Network on Rare Neuromuscular Diseases (ERN EURO\u2010NMD) Universitat Aut\u00f2noma de Barcelona Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5410-0854","authenticated-orcid":false,"given":"Francesc","family":"Carmona","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics University of Barcelona Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3940-6529","authenticated-orcid":false,"given":"Enrique 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