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Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.<\/jats:p><\/jats:sec>Methods<\/jats:title>Given that the pathogenic repeat expansion is rare on a population level, we proposed a common ancestor across all families. Here, we employed targeted long\u2010read sequencing through adaptive sampling, enriching for the chr16q22 region of interest.<\/jats:p><\/jats:sec>Results<\/jats:title>Using phased sequencing results from individuals from Utah, Iowa, and Southern Sweden, we confirmed a common ~2000\u2010year\u2010old ancestral haplotype harbouring the repeat expansion.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>This study provides further insight into the genetic architecture of SCA4. \u00a9 2024 The Author(s). 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.30077","type":"journal-article","created":{"date-parts":[[2024,12,5]],"date-time":"2024-12-05T07:59:27Z","timestamp":1733385567000},"page":"363-369","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The ZFHX3<\/i> GGC<\/scp> Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6668-7202","authenticated-orcid":false,"given":"Zhongbo","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Clinical and Movement Neuroscience Queen Square Institute of Neurology, University College London (UCL) London UK"},{"name":"The Francis Crick Institute London 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