{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T03:44:18Z","timestamp":1786160658195,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T00:00:00Z","timestamp":1786060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T00:00:00Z","timestamp":1786060800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100005725","name":"CHDI Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PSG1253"],"award-info":[{"award-number":["PSG1253"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine\u2010encoding CAG repeat in the\n                      <jats:italic>ATXN3<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      We aimed to determine whether somatic expansion of the mutant\n                      <jats:italic>ATXN3<\/jats:italic>\n                      (\n                      <jats:italic>mATXN3<\/jats:italic>\n                      ) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in individuals affected with SCA3.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We combined sorting of cell nuclei from post\u2010mortem brain tissue, transcriptome analysis\u2010based confirmation of sample purity, and high\u2010depth sequencing of\n                      <jats:italic>ATXN3<\/jats:italic>\n                      exon 10 amplicons to analyze the stability of\n                      <jats:italic>mATXN3<\/jats:italic>\n                      CAG repeat in PCs in individuals with SCA3.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We demonstrated that the expansion of\n                      <jats:italic>mATXN3<\/jats:italic>\n                      CAG repeat in PCs is minimal, comparable with cerebellar granule neurons, and the repeat is more stable in PCs compared with striatal medium spiny neurons.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The modest somatic expansion of the\n                      <jats:italic>mATXN3<\/jats:italic>\n                      CAG repeat observed in PCs is likely not responsible for their loss in individuals with SCA3. \u00a9 2026 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70465","type":"journal-article","created":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T03:38:17Z","timestamp":1786160297000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanded\n                    <scp>\n                      <i>ATXN3<\/i>\n                      CAG\n                    <\/scp>\n                    Repeat is Stable in Human Purkinje Cells"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9167-3643","authenticated-orcid":false,"given":"Hasnahana","family":"Chetia","sequence":"first","affiliation":[{"name":"Labratory of Molecular Biology The Rockefeller University  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Kus","sequence":"additional","affiliation":[{"name":"Labratory of Molecular Biology The Rockefeller University  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Sipos","sequence":"additional","affiliation":[{"name":"Labratory of Molecular Biology The Rockefeller University  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8874-8704","authenticated-orcid":false,"given":"Nathaniel","family":"Heintz","sequence":"additional","affiliation":[{"name":"Labratory of Molecular Biology The Rockefeller University  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8453-4453","authenticated-orcid":false,"given":"Kert","family":"M\u00e4tlik","sequence":"additional","affiliation":[{"name":"Labratory of Molecular Biology The Rockefeller University  New York USA"},{"name":"Department of Chemistry and Biotechnology Tallinn University of Technology  Tallinn Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,7]]},"reference":[{"issue":"2","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.pneurobio.2011.11.006","article-title":"Toward understanding Machado\u2010Joseph disease","volume":"97","author":"Costa MC","year":"2012","journal-title":"Prog Neurobiol"},{"issue":"3","key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1007\/s12311-011-0340-8","article-title":"Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3)","volume":"11","author":"Scherzed W","year":"2012","journal-title":"Cerebellum"},{"key":"e_1_2_10_4_1","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.pneurobio.2013.01.001","article-title":"Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7","volume":"104","author":"R\u00fcb U","year":"2013","journal-title":"Prog Neurobiol"},{"key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/j.cell.2019.06.036","article-title":"CAG repeat not polyglutamine length determines timing of Huntington's disease onset","volume":"178","author":"GeM\u2010HD Consortium","year":"2019","journal-title":"Cell"},{"key":"e_1_2_10_6_1","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1038\/s41588-024-01653-6","article-title":"Cell\u2010type\u2010specific CAG repeat expansions and toxicity of mutant huntingtin in human striatum and cerebellum","volume":"56","author":"M\u00e4tlik K","year":"2024","journal-title":"Nat Genet"},{"issue":"3","key":"e_1_2_10_7_1","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.cell.2024.11.038","article-title":"Long somatic DNA\u2010repeat expansion drives neurodegeneration in Huntington's disease","volume":"188","author":"Handsaker RE","year":"2025","journal-title":"Cell"},{"key":"e_1_2_10_8_1","first-page":"924","article-title":"Selective vulnerability of layer 5a corticostriatal neurons in Huntington's disease","volume":"112","author":"Pressl C","year":"2024","journal-title":"Neuron 2024"},{"key":"e_1_2_10_9_1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ana.410400211","article-title":"Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado\u2010Joseph disease","volume":"40","author":"Lopes\u2010Cendes I","year":"1996","journal-title":"Ann Neurol"},{"key":"e_1_2_10_10_1","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1007\/s004150050464","article-title":"Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2","volume":"246","author":"Matsuura T","year":"1999","journal-title":"J Neurol"},{"issue":"1","key":"e_1_2_10_11_1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M","article-title":"Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3\/Machado\u2010Joseph disease","volume":"11","author":"Cancel G","year":"1998","journal-title":"Hum Mutat"},{"key":"e_1_2_10_12_1","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.ajhg.2024.03.015","article-title":"CAG repeat mosaicism is gene specific in spinocerebellar ataxias","volume":"111","author":"Kacher R","year":"2024","journal-title":"Am J Hum Genet"},{"key":"e_1_2_10_13_1","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1002\/ana.24656","article-title":"DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases","volume":"79","author":"Betencourt C","year":"2016","journal-title":"Ann Neurol"},{"issue":"1","key":"e_1_2_10_14_1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s12017-019-08572-4","article-title":"Variation in DNA repair system gene as an additional modifier of age at onset in spinocerebellar ataxia type 3\/Machado\u2010Joseph disease","volume":"22","author":"Mergener R","year":"2020","journal-title":"Neuromol Med"},{"issue":"4","key":"e_1_2_10_15_1","doi-asserted-by":"crossref","DOI":"10.1093\/brain\/awaa043","article-title":"The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia","volume":"143","author":"Yau WY","year":"2020","journal-title":"Brain"},{"issue":"4","key":"e_1_2_10_16_1","doi-asserted-by":"crossref","DOI":"10.1093\/brain\/awaa044","article-title":"Reply: the repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia","volume":"143","author":"Flower M","year":"2020","journal-title":"Brain"},{"issue":"12","key":"e_1_2_10_17_1","doi-asserted-by":"crossref","DOI":"10.1002\/cpz1.70067","article-title":"Isolation and molecular profiling of nuclei of specific neuronal types from human cerebral cortex and striatum","volume":"4","author":"Pressl C","year":"2024","journal-title":"Curr Protoc"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.70465","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.70465","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.70465","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T03:38:25Z","timestamp":1786160305000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.70465"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,7]]},"references-count":16,"alternative-id":["10.1002\/mds.70465"],"URL":"https:\/\/doi.org\/10.1002\/mds.70465","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,7]]},"assertion":[{"value":"2026-04-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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