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Despite being recognized as a frequent adult-onset ataxia, its full clinical spectrum remains incompletely understood.\u00a0To characterize the neurological, cognitive, and paraclinical phenotype of patients with heterozygous\n                    <jats:italic>FGF14<\/jats:italic>\n                    repeat expansions (&gt;200) and expand the currently known motor and non-motor features, as well as to assess the co-occurrence of other repeat expansions.\u00a0In this cross-sectional single-center study, patients with heterozygous\n                    <jats:italic>FGF14<\/jats:italic>\n                    repeat expansions underwent standardized neurological examination and cognitive screening. Paraclinical data were reviewed when available.\u00a018 patients were included in the study (mean age at onset: 64 [37\u201379], at examination: 76 [61\u201394]). They all presented with gait ataxia, most commonly a lateral veering gait with corrective sidesteps. In addition to the core known cerebellar phenotype, we identified other movement-disorder manifestations, including myokymia, myoclonus, dystonia, and parkinsonism, with nigrostriatal degeneration confirmed in one patient. Cognitive impairment was common, with two-thirds of patients fulfilling criteria for cerebellar cognitive\u2013affective syndrome (mean MoCA: 25 [21\u201329], CCAS: 86.9\/120 [62\u2013108]). Worse CCAS and MoCA performance was associated with increasing ataxia severity.\n                    <jats:italic>FGF14<\/jats:italic>\n                    repeat expansions ranged from 210 to 520, and co-occurrence with heterozygous expansions in\n                    <jats:italic>RFC1<\/jats:italic>\n                    or\n                    <jats:italic>ATXN8\/ATXN8OS<\/jats:italic>\n                    were identified in three patients. Earlier diagnostic misclassification as transient ischemic attack was reported in 33%. These findings expand the known phenotype of spinocerebellar ataxia type 27B, emphasizing it as a multisystem movement disorder.\n                  <\/jats:p>","DOI":"10.1007\/s12311-026-02041-y","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T04:32:59Z","timestamp":1782707579000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings"],"prefix":"10.1007","volume":"25","author":[{"given":"Ronak","family":"Rashedi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Peem\u00f6ller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannes","family":"Erdmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Gelderblom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Hidding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Ganos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3767-6376","authenticated-orcid":false,"given":"Simone","family":"Zittel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,29]]},"reference":[{"key":"2041_CR1","doi-asserted-by":"publisher","unstructured":"Chen Z, Tucci A, Ryten M. 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