{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T17:57:31Z","timestamp":1777917451564,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,10,15]],"date-time":"2020-10-15T00:00:00Z","timestamp":1602720000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The ataxin\u20102 (<jats:italic>ATXN2<\/jats:italic>) gene contains a cytosine\u2010adenine\u2010guanine repeat sequence ranging from 13 to 31 repeats, but when surpassing certain thresholds causes neurodegeneration. Genetic alterations in <jats:italic>ATXN2<\/jats:italic> other than pathological  cytosine adenine guanine (CAG) repeats are unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods\/Results<\/jats:title><jats:p>We have identified a 9\u2013base pair duplication in the 2\u2010gene <jats:italic>ATXN2<\/jats:italic> sense\/antisense region. The duplication was found in a Swedish family with spinocerebellar ataxia 3 with parkinsonism, conferring a deviated age at onset unexplained by the concomitant presence of <jats:italic>ATXN2<\/jats:italic> intermediate alleles. Similarly, <jats:italic>C9ORF72<\/jats:italic> amyotrophic lateral sclerosis cases bearing the same duplication had earlier age at onset than those with <jats:italic>C9ORF72<\/jats:italic> and <jats:italic>ATXN2<\/jats:italic> intermediate alleles. No effect was evident in Parkinson's disease (PD) cases without known PD gene mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We describe the first genetic alteration other than the known intermediate\u2010range CAG repeats in <jats:italic>ATXN2<\/jats:italic>. This 9\u2013base pair duplication may act as an additional hit among carriers of pathological nucleotide expansions in <jats:italic>ATXN3<\/jats:italic> and <jats:italic>C9ORF72<\/jats:italic> with <jats:italic>ATXN2<\/jats:italic> intermediate. \u00a9 2020 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28334","type":"journal-article","created":{"date-parts":[[2020,10,15]],"date-time":"2020-10-15T09:53:00Z","timestamp":1602755580000},"page":"508-514","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A Novel Duplication in <scp><i>ATXN2<\/i><\/scp> as Modifier for Spinocerebellar Ataxia 3 (<scp>SCA3<\/scp>) and <scp>C9ORF72\u2010ALS<\/scp>"],"prefix":"10.1002","volume":"36","author":[{"given":"Jose Miguel","family":"Laffita\u2010Mesa","sequence":"first","affiliation":[{"name":"Department of Clinical Neuroscience (CNS), Neuro Svenningsson, J5:20 Bioclinicum Karolinska Universitetssjukhuset  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inger","family":"Nennesmo","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuroscience (CNS), Neuro Svenningsson, J5:20 Bioclinicum Karolinska Universitetssjukhuset  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Paucar","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuroscience (CNS), Neuro Svenningsson, J5:20 Bioclinicum Karolinska Universitetssjukhuset  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per","family":"Svenningsson","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuroscience (CNS), Neuro Svenningsson, J5:20 Bioclinicum Karolinska Universitetssjukhuset  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-269"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-285"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-277"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.154"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13779"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu174"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0117488"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.636"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24761"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.07.039"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2018.09.009"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-018-0547-8"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000283"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv298"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2016.1189070"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010100364"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201593350"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.04.016"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2006.09.009"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2016.09.002"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09320"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31821f4447"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.28334","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.28334","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.28334","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:43:48Z","timestamp":1760953428000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.28334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,15]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1002\/mds.28334"],"URL":"https:\/\/doi.org\/10.1002\/mds.28334","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,15]]},"assertion":[{"value":"2020-02-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}