{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:32:59Z","timestamp":1791973979780,"version":"4.4.0"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T00:00:00Z","timestamp":1643846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CM19\/00178"],"award-info":[{"award-number":["CM19\/00178"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI18\/01525"],"award-info":[{"award-number":["PI18\/01525"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late\u2010onset myopathy characterized by ptosis, dysphagia, and progressive proximal limb muscle weakness. The disease is produced by a short expansion of the (GCN)\n                      <jats:sub>n<\/jats:sub>\n                      triplet in the\n                      <jats:italic>PABPN1<\/jats:italic>\n                      gene. The size of expansion has been correlated to the disease onset and severity. We report the clinical features of a large cohort of OPMD patients harboring the (GCN)15 allele from the Canary Islands.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective observational study was performed analyzing the clinical, demographic, and genetic data of 123 OPMD patients. Clinical data from this cohort were compared with clinical data collected in a large European study including 139 OPMD patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 113 patients (94.2%) carried the (GCN)15 expanded\n                      <jats:italic>PABN1<\/jats:italic>\n                      allele. Age of symptoms\u2019 onset was 45.1\u00a0years. The most frequent symptom at onset was ptosis (85.2%) followed by dysphagia (12%). The severity of the disease was milder in the Canary cohort compared to European patients as limb weakness (35.1% vs. 50.4%), the proportion of patients that require assistance for walking or use a wheelchair (9.3% vs. 27.4%), and needed of surgery because of severe dysphagia (4.6% vs. 22.8%) was higher in the European cohort.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Nearly 95% of patients with OPMD from the Canary Islands harbored the (GCN)15 expanded allele supporting a potential founder effect. Disease progression seemed to be milder in the (GCN)15 OPMD Canary cohort than in other cohorts with shorter expansions suggesting that other factors, apart from the expansion size, could be involved in the progression of the disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.15252","type":"journal-article","created":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T08:21:30Z","timestamp":1643876490000},"page":"1488-1495","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8866-5186","authenticated-orcid":false,"given":"Jorge","family":"Alonso\u2010P\u00e9rez","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit Department of Neurology Department of Medicine Hospital de la Santa Creu i Sant Pau Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Department of Neurology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"de Le\u00f3n Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"P\u00e9rez\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Universitario de Canarias  Santa Cruz de Tenerife Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Dolores","family":"Mendoza\u2010Grim\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Universitario de Gran Canaria Doctor Negr\u00edn  Las Palmas de Gran Canaria Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Jos\u00e9","family":"Gutierrez\u2010Martinez","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Insular Materno\u2010Infantil de Canarias  Las Palmas de Gran Canaria Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioanna","family":"Hadjigeorgiou","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Doctor Jose Molina Orosa  Lanzarote Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Mont\u00f3n\u2010\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Gonz\u00e1lez\u2010Quereda","sequence":"additional","affiliation":[{"name":"Genetics Department IIB Sant Pau Hospital de la Santa Creu i Sant Pau Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER)  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2200-9255","authenticated-orcid":false,"given":"Alicia","family":"Alonso\u2010Jimenez","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center Department of Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Su\u00e1rez\u2010Calvet","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit Department of Neurology Department of Medicine Hospital de la Santa Creu i Sant Pau Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER)  Valencia 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