{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T05:11:12Z","timestamp":1773292272646,"version":"3.50.1"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T00:00:00Z","timestamp":1589846400000},"content-version":"vor","delay-in-days":139,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"ALS Foundation Netherlands, the Belgian ALS Liga and National Lottery, Agency for Innovation by Science and Technology (IWT), and the MND Association"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Increasingly, repeat expansions are being identified as part of the complex genetic architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been genetically associated with the disease: intronic repeat expansions in C9orf72, polyglutamine expansions in ATXN2 and polyalanine expansions in NIPA1. Together with previously published data, the identification of an amyotrophic lateral sclerosis patient with a family history of spinocerebellar ataxia type 1, caused by polyglutamine expansions in ATXN1, suggested a similar disease association for the repeat expansion in ATXN1. We, therefore, performed a large-scale international study in 11\u00a0700 individuals, in which we showed a significant association between intermediate ATXN1 repeat expansions and amyotrophic lateral sclerosis (P\u2009=\u20093.33 \u00d7 10\u22127). Subsequent functional experiments have shown that ATXN1 reduces the nucleocytoplasmic ratio of TDP-43 and enhances amyotrophic lateral sclerosis phenotypes in Drosophila, further emphasizing the role of polyglutamine repeat expansions in the pathophysiology of amyotrophic lateral sclerosis.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaa064","type":"journal-article","created":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T10:58:38Z","timestamp":1589885918000},"source":"Crossref","is-referenced-by-count":48,"title":["<i>ATXN1<\/i> repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization"],"prefix":"10.1093","volume":"2","author":[{"given":"Gijs H P","family":"Tazelaar","sequence":"first","affiliation":[{"name":"Department of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The 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