{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T12:41:09Z","timestamp":1792586469783,"version":"4.5.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T00:00:00Z","timestamp":1739491200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["11F0921N"],"award-info":[{"award-number":["11F0921N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["1805021N"],"award-info":[{"award-number":["1805021N"]}],"id":[{"id":"10.13039\/501100003130","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":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The cooccurrence of intermediate (40\u201349 CAG\/CAA) <jats:italic>TBP<\/jats:italic> repeat expansions with <jats:italic>STUB1<\/jats:italic> variants questions the pathogenicity of monoallelic <jats:italic>STUB1<\/jats:italic> variants in cerebellar ataxia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The objective of this study was to describe the phenotypic spectrum of heterozygous <jats:italic>STUB1<\/jats:italic> variants with or without intermediate <jats:italic>TBP<\/jats:italic> repeat expansions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We determined the presence of <jats:italic>TBP<\/jats:italic> repeat expansions and <jats:italic>STUB1<\/jats:italic> variants in six families with cerebellar ataxia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Cooccurrence of both genotypes in one family resulted in cerebellar ataxia, involving cognitive and extrapyramidal complications. Variable degrees of cerebellar ataxia and cognitive impairment were found in four families carrying a heterozygous <jats:italic>STUB1<\/jats:italic> variant and normal <jats:italic>TBP<\/jats:italic> alleles. Finally, we report one patient with a mild late\u2010onset cerebellar ataxia carrying an intermediate expanded <jats:italic>TBP<\/jats:italic> allele without the presence of a <jats:italic>STUB1<\/jats:italic> variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Heterozygous <jats:italic>STUB1<\/jats:italic> variants are associated with a milder phenotype and reduced penetrance compared with the cosegregation with intermediate <jats:italic>TBP<\/jats:italic> alleles, which causes a fully penetrant complicated form of cerebellar ataxia. \u00a9 2025 International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.30147","type":"journal-article","created":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T08:44:56Z","timestamp":1739522696000},"page":"980-985","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>TBP<\/scp> Repeat Expansion Analysis in Patients Carrying Heterozygous <scp>STUB1<\/scp> Variants"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0166-6758","authenticated-orcid":false,"given":"Jonathan","family":"De Winter","sequence":"first","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born\u2010Bunge University of Antwerp  Antwerp Belgium"},{"name":"Neuromuscular Reference Centre, Department of Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2214-5908","authenticated-orcid":false,"given":"Liedewei","family":"Van de Vondel","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born\u2010Bunge University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristof","family":"Van Schil","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics University of Antwerp and Antwerp University Hospital  Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tine","family":"Deconinck","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics University of Antwerp and Antwerp University Hospital  Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrien","family":"Storm","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics University of Antwerp and Antwerp University Hospital  Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Geens","sequence":"additional","affiliation":[{"name":"Department of Neurology AZ Klina  Brasschaat Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Sommeling","sequence":"additional","affiliation":[{"name":"Department of Neurology AZ Voorkempen  Malle Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Crosiers","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Department of Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emke","family":"Marechal","sequence":"additional","affiliation":[{"name":"Department of Neurology Antwerp University Hospital  Antwerp Belgium"},{"name":"Department of Neurology Middelheim Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willem","family":"De Ridder","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born\u2010Bunge University of Antwerp  Antwerp Belgium"},{"name":"Neuromuscular Reference Centre, Department of Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"De Jonghe","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Centre, Department of Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born\u2010Bunge University of Antwerp  Antwerp Belgium"},{"name":"Neuromuscular Reference Centre, Department of Neurology Antwerp University Hospital  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