{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:34:57Z","timestamp":1790692497388,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T00:00:00Z","timestamp":1720051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T00:00:00Z","timestamp":1720051200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CM22\/00099"],"award-info":[{"award-number":["CM22\/00099"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance.\n                      <jats:italic>ATXN8OS\/ATXN8<\/jats:italic>\n                      expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We aimed to further investigate the molecular background of patients with SCA8 diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients were selected from our cohort of 346 families. A total of 14 probands with SCA8 underwent additional investigation through exome sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Pathogenic heterozygous\n                      <jats:italic>STUB1<\/jats:italic>\n                      variants were found in 21.4% of SCA8 patients (3 of 14) compared to only 0.5% in the non\u2010SCA8 group (1 of 222), indicating a statistically significant association (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.05).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The findings reported in this study might suggest a genetic synergism between\n                      <jats:italic>STUB1<\/jats:italic>\n                      and\n                      <jats:italic>ATXN8OS\/ATXN8<\/jats:italic>\n                      expanded alleles. Further studies are needed to validate this observation and better define the clinical impact of this genetic interaction.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.29910","type":"journal-article","created":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T05:29:57Z","timestamp":1720070997000},"page":"1641-1644","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>\n                      <i>STUB1<\/i>\n                    <\/scp>\n                    Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9913-4268","authenticated-orcid":false,"given":"Raquel","family":"Baviera\u2010Mu\u00f1oz","sequence":"first","affiliation":[{"name":"Neurology Department Hospital Universitari I Polit\u00e8cnic La Fe  Valencia Spain"},{"name":"Cellular, Molecular and Genomics Biomedicine Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"},{"name":"Rare Diseases Joint Unit, CIPF\u2010IIS La Fe  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lid\u00f3n","family":"Carretero\u2010Vilarroig","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Pedro\u2010Ibor","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0973-9146","authenticated-orcid":false,"given":"Teresa","family":"Jaijo","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"},{"name":"Rare Diseases Joint Unit, CIPF\u2010IIS La Fe  Valencia Spain"},{"name":"Department of Genetics Hospital Universitari I Polit\u00e8cnic La Fe  Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Del Valle\u2010Carranza","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Mart\u00ednez\u2010Torres","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital Universitari I Polit\u00e8cnic La Fe  Valencia Spain"},{"name":"Rare Diseases Joint Unit, CIPF\u2010IIS La Fe  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose M.","family":"Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"},{"name":"Rare Diseases Joint Unit, CIPF\u2010IIS La Fe  Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2471-4492","authenticated-orcid":false,"given":"Luis","family":"Bataller","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital Universitari I Polit\u00e8cnic La Fe  Valencia Spain"},{"name":"Neuromuscular and Ataxias Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"},{"name":"Department of Medicine University of Valencia  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7973-5250","authenticated-orcid":false,"given":"Elena","family":"Aller","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"},{"name":"Rare Diseases Joint Unit, CIPF\u2010IIS La Fe  Valencia Spain"},{"name":"Department of Genetics Hospital Universitari I Polit\u00e8cnic La Fe  Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/S41531-017-0029-X"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.ade2044"},{"key":"e_1_2_10_4_1","unstructured":"ClearyJD SubramonySH RanumLPW.Spinocerebellar ataxia type 8. 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