{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T16:30:50Z","timestamp":1790094650286,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,7,7]],"date-time":"2024-07-07T00:00:00Z","timestamp":1720310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,7,7]],"date-time":"2024-07-07T00:00:00Z","timestamp":1720310400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2024,9]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Monoallelic, pathogenic\n STUB1<\/jats:italic>\n variants cause autosomal dominant cerebellar ataxia (ATX\u2010\n STUB1<\/jats:italic>\n \/SCA48). Recently, a genetic interaction between\n STUB1<\/jats:italic>\n variants and intermediate or high\u2010normal CAG\/CAA repeats in\n TBP<\/jats:italic>\n was suggested, indicating digenic inheritance or a disease\u2010modifying role for\n TBP<\/jats:italic>\n expansions.\n <\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n \n To determine the presence and impact of intermediate or high\u2010normal\n TBP<\/jats:italic>\n expansions in ataxic patients with heterozygous\n STUB1<\/jats:italic>\n variants.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We describe 21 patients with ataxia carrying a heterozygous\n STUB1<\/jats:italic>\n variant and determined\n TBP<\/jats:italic>\n repeat length.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A total of 15 of 21 patients (71%) carried a normal\n TBP<\/jats:italic>\n \n <40<\/jats:italic>\n <\/jats:sub>\n allele, 4 (19%) carried an intermediate\n TBP<\/jats:italic>\n \n 41\u201342<\/jats:italic>\n <\/jats:sub>\n allele, and two carried a high\u2010normal\n TBP<\/jats:italic>\n \n 40<\/jats:italic>\n <\/jats:sub>\n allele (9.5%). Five of six carriers (83%) of both\n STUB1<\/jats:italic>\n variants and\n TBP<\/jats:italic>\n \n 40\u201342<\/jats:italic>\n <\/jats:sub>\n alleles showed marked cognitive impairment.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n SCA48 is predominantly a monogenic disorder, because most patients carried an isolated, heterozygous\n STUB1<\/jats:italic>\n variant and presented with the typical combined phenotype of ataxia and cognitive dysfunction. Still, co\u2010occurrence of\n TBP<\/jats:italic>\n \n 41\u201342<\/jats:italic>\n <\/jats:sub>\n or high\u2010normal TBP\n 40<\/jats:sub>\n alleles was relatively frequent and associated with marked cognitive defects (28.5%), suggesting a modifying effect on clinical expression in some cases.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.29912","type":"journal-article","created":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T00:28:05Z","timestamp":1720398485000},"page":"1636-1640","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A New Case Series Suggests That SCA48 (ATX\/STUB1) Is Primarily a Monogenic Disorder"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6372-0801","authenticated-orcid":false,"given":"Teije H.","family":"van Prooije","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition, and Behavior Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maartje","family":"Pennings","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucille","family":"Dorresteijn","sequence":"additional","affiliation":[{"name":"Department of Neurology Medisch Spectrum Twente Enschede the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thatjana","family":"Gardeitchik","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent J.J.","family":"Odekerken","sequence":"additional","affiliation":[{"name":"Department of Neurology Amsterdam UMC Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayke","family":"Oosterloo","sequence":"additional","affiliation":[{"name":"Department of Neurology, School for Mental Health and Neuroscience Maastricht University Medical Center Maastricht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Pedersen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Institute of Biomedicine University of Gothenburg Gothenburg Sweden"},{"name":"Department of Clinical Genetics and Genomics Sahlgrenska University Hospital Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corien C.","family":"Verschuuren\u2010Bemelmans","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen, University of Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Vrancken","sequence":"additional","affiliation":[{"name":"Department of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik\u2010Jan","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart P.C.","family":"van de Warrenburg","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition, and Behavior Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006550"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0081884"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0899-x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01104-1"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14094"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.08.003"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.10.009"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29278"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25934"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-020-02427-7"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-024-00758-8"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-007-0579-7"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-019-04233-3"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01174-1"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2019.0423"}],"container-title":["Movement 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