{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:54:39Z","timestamp":1787496879764,"version":"build-2736575974"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T00:00:00Z","timestamp":1710374400000},"content-version":"vor","delay-in-days":73,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013958","name":"Telemark Hospital Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013958","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006095","name":"South-Eastern Norway Regional Health Authority","doi-asserted-by":"publisher","award":["2021097"],"award-info":[{"award-number":["2021097"]}],"id":[{"id":"10.13039\/501100006095","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Genetic repeat expansions cause neuronal degeneration in amyotrophic lateral sclerosis as well as other neurodegenerative disorders such as spinocerebellar ataxia, Huntington\u2019s disease and Kennedy\u2019s disease. Repeat expansions in the same gene can cause multiple clinical phenotypes. We aimed to characterize repeat expansions in a Norwegian amyotrophic lateral sclerosis cohort. Norwegian amyotrophic lateral sclerosis patients (n = 414) and neurologically healthy controls adjusted for age and gender (n = 713) were investigated for repeat expansions in AR, ATXN1, ATXN2 and HTT using short read exome sequencing and the ExpansionHunter software. Five amyotrophic lateral sclerosis patients (1.2%) and two controls (0.3%) carried \u226536 repeats in HTT (P = 0.032), and seven amyotrophic lateral sclerosis patients (1.7%) and three controls (0.4%) carried \u226529 repeats in ATXN2 (P = 0.038). One male diagnosed with amyotrophic lateral sclerosis carried a pathogenic repeat expansion in AR, and his diagnosis was revised to Kennedy\u2019s disease. In ATXN1, 50 amyotrophic lateral sclerosis patients (12.1%) and 96 controls (13.5%) carried \u226533 repeats (P = 0.753). None of the patients with repeat expansions in ATXN2 or HTT had signs of Huntington\u2019s disease or spinocerebellar ataxia type 2, based on a re-evaluation of medical records. The diagnosis of amyotrophic lateral sclerosis was confirmed in all patients, with the exception of one patient who had primary lateral sclerosis. Our findings indicate that repeat expansions in HTT and ATXN2 are associated with increased likelihood of developing amyotrophic lateral sclerosis. Further studies are required to investigate the potential relationship between HTT repeat expansions and amyotrophic lateral sclerosis.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae087","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T13:38:30Z","timestamp":1710250710000},"source":"Crossref","is-referenced-by-count":9,"title":["Repeat expansions in\n                    <i>AR<\/i>\n                    ,\n                    <i>ATXN1<\/i>\n                    ,\n                    <i>ATXN2<\/i>\n                    and\n                    <i>HTT<\/i>\n                    in Norwegian patients diagnosed with amyotrophic lateral sclerosis"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-0089-3669","authenticated-orcid":false,"given":"Camilla","family":"Novy","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Telemark Hospital Trust , 3710 Skien , Norway"},{"name":"Faculty of Medicine, Institute of Clinical Medicine, University of Oslo , 0316 Oslo , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d8yvind L","family":"Busk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Telemark Hospital Trust , 3710 Skien , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ole-Bj\u00f8rn","family":"Tysnes","sequence":"additional","affiliation":[{"name":"Neuro-SysMed, Department of Neurology, Haukeland University Hospital , 5009 Bergen , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigve S","family":"Landa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Telemark Hospital Trust , 3710 Skien , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tori N","family":"Aanjesen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Akershus University Hospital , 1478 L\u00f8renskog , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl B","family":"Alstadhaug","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nordland Hospital Trust , 8005 Bod\u00f8 , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tale L","family":"Bjerknes","sequence":"additional","affiliation":[{"name":"Neuro-SysMed, Department of Neurology, Haukeland University Hospital , 5009 Bergen , Norway"},{"name":"Institute of Clinical Medicine, University of Bergen , 5007 Bergen , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid K","family":"Bj\u00f8rn\u00e5","sequence":"additional","affiliation":[{"name":"Department of Neurology, Vestre Viken Hospital Trust , 3004 Drammen , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geir","family":"Br\u00e5then","sequence":"additional","affiliation":[{"name":"Department of Neurology and Clinical Neurophysiology, St. Olavs Hospital, Trondheim University Hospital , 7030 Trondheim , Norway"},{"name":"Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology , 7034 Trondheim , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elin","family":"Dahl","sequence":"additional","affiliation":[{"name":"Department of Neurology, Telemark Hospital Trust , 3710 Skien , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha","family":"Demic","sequence":"additional","affiliation":[{"name":"Department of Neurology, Vestfold Hospital Trust , 3103 T\u00f8nsberg , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Fahlstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Telemark Hospital Trust , 3710 Skien , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi \u00d8","family":"Flemmen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Telemark Hospital Trust , 3710 Skien , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Hallerstig","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u00d8stfold Hospital Trust , 1714 Gr\u00e5lum , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ineke","family":"HogenEsch","sequence":"additional","affiliation":[{"name":"Department of Neurology, Fonna Hospital Trust , 5528 Haugesund , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margitta T","family":"Kampman","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital of North Norway , 9019 Troms\u00f8 , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grethe","family":"Kleveland","sequence":"additional","affiliation":[{"name":"Department of Neurology, Innlandet Hospital Trust , 2609 Lillehammer , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene B","family":"Kvernmo","sequence":"additional","affiliation":[{"name":"Department of Neurology and Clinical Neurophysiology, St. Olavs Hospital, Trondheim University Hospital , 7030 Trondheim , Norway"},{"name":"Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology , 7034 Trondheim , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Unn","family":"Lj\u00f8stad","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, University of Bergen , 5007 Bergen , Norway"},{"name":"Department of Neurology, S\u00f8rlandet Hospital Trust , 4615 Kristiansand , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelina","family":"Maniaol","sequence":"additional","affiliation":[{"name":"Department of Neurology, Oslo University Hospital , 0450 Oslo , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aase Hagen","family":"Morsund","sequence":"additional","affiliation":[{"name":"Department of Neurology, Molde Hospital , 6412 Molde , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ola","family":"Nakken","sequence":"additional","affiliation":[{"name":"Department of Neurology, Akershus University Hospital , 1478 L\u00f8renskog , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathrine G","family":"Olsen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Telemark Hospital Trust , 3710 Skien , Norway"},{"name":"Faculty of Medicine, Institute of Clinical Medicine, University of Oslo , 0316 Oslo , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Schl\u00fcter","sequence":"additional","affiliation":[{"name":"Department of Neurology, Stavanger University Hospital , 4019 Stavanger , 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