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Recently, a novel pathogenic repeat expansion in intron 1 of <jats:italic>FGF14<\/jats:italic> was identified, causing adult\u2010onset SCA (SCA27B). We aimed to determine the proportion of our unsolved adult\u2010onset ataxia cohort harboring this expansion using several technologies, and to characterize the phenotypic presentation within our population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Individuals presenting with adult\u2010onset ataxia (&gt;\u200930\u2009years old) and negative previous genetic testing were selected from the Care4Rare patient repository. Affected individuals were from all ethnicities, and 90% had a family history suggestive of dominant ataxia, representing 19 of the 23 families included. We used multiple tools (PCR, long\u2010read genome sequencing and optical genome mapping (OGM)) to identify the pathogenic GAA repeat in <jats:italic>FGF14<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 23 families included in this study, 65.2% harbored a pathogenic GAA expansion in <jats:italic>FGF14<\/jats:italic>. Individuals of French\u2010Canadian descent (FC) represented most of our cohort and had a 64.7% diagnostic yield. Affected individuals presented with gaze\u2010evoked nystagmus, gait ataxia, cerebellar dysarthria, and early episodic features. The GAA expansion in <jats:italic>FGF14<\/jats:italic> was visible by OGM in all individuals tested.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Our diagnostic yield demonstrates this expansion may be the most common cause of adult\u2010onset SCA in dominant families of FC ancestry. Our FC participants have a phenotype distinct from previously published FC patients, with gaze\u2010evoked nystagmus being the most common eye anomaly. From a diagnostic standpoint, the pathogenic GAA repeat can be identified by OGM, but additional tests are required to complement the interpretation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.70016","type":"journal-article","created":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T12:03:06Z","timestamp":1744027386000},"page":"1118-1125","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp><i>FGF14<\/i> GAA<\/scp> Intronic Expansion in Unsolved Adult\u2010Onset Ataxia in the <scp>Care4Rare<\/scp> Canada Consortium"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8505-3758","authenticated-orcid":false,"given":"Alexanne","family":"Cuillerier","sequence":"first","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"},{"name":"University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia F.","family":"Del Gobbo","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"},{"name":"University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Layla","family":"Mackay","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Wall","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeline","family":"Couse","sequence":"additional","affiliation":[{"name":"Centre for Computational Medicine, the Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura M.","family":"McDonell","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Cloutier","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt C.","family":"Danzi","sequence":"additional","affiliation":[{"name":"Dr. John T. 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