{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:57:55Z","timestamp":1785772675449,"version":"3.56.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    GAA\u2010\n                    <jats:italic>FGF14<\/jats:italic>\n                    ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult\u2010onset autosomal dominant cerebellar ataxia (ADCA). In this study, we assessed the frequency of GAA\u2010\n                    <jats:italic>FGF14<\/jats:italic>\n                    ataxia in a predominantly sporadic German cohort of 107 genetically unresolved index patients using long\u2010range PCR and nanopore sequencing. Somatic mosaicism of GAA repeat length was assessed using a custom bioinformatics pipeline based on a modified cyclic Smith\u2013Waterman algorithm. This approach provided streamlined detection and enabled precise genotyping. Among sporadic cases, 10% had a pathogenic and 6% an intermediate repeat expansion. Across the entire cohort, 13% carried a pathogenic and 5% an intermediate repeat expansion. Diagnostic yield varied substantially by clinical presentation: 50% in cases with typical GAA\u2010\n                    <jats:italic>FGF14<\/jats:italic>\n                    \u2010ataxia features, 13% in patients with compatible but less characteristic features and 5% in atypical presentations. In conclusion, this study further corroborates existing evidence that GAA\u2010\n                    <jats:italic>FGF14<\/jats:italic>\n                    ataxia is a frequent cause of both sporadic and familial cerebellar ataxia. Given its high diagnostic yield and the limited detectability by standard short\u2010read genome sequencing, targeted testing should be more widely implemented.\n                  <\/jats:p>","DOI":"10.1111\/cge.70184","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T07:15:35Z","timestamp":1779952535000},"page":"358-362","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["GAA\u2010\n                    <i>FGF14<\/i>\n                    Ataxia Is a Frequently Overlooked Cause of Sporadic Adult\u2010Onset Ataxia"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6152-8971","authenticated-orcid":false,"given":"Eva\u2010Maria","family":"Kraus","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig 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