{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T07:14:00Z","timestamp":1790320440493,"version":"4.1.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2025,5,17]],"date-time":"2025-05-17T00:00:00Z","timestamp":1747440000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["FOR2488"],"award-info":[{"award-number":["FOR2488"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["BR4328.2-1"],"award-info":[{"award-number":["BR4328.2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["GRK1957"],"award-info":[{"award-number":["GRK1957"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FRN-148910"],"award-info":[{"award-number":["FRN-148910"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FRN-173282"],"award-info":[{"award-number":["FRN-173282"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Deep intronic FGF14 repeat expansions have been identified as a frequent genetic cause of late-onset cerebellar ataxias, explaining \u226430% of patients. Interruptions between repeats have previously been identified to impact the penetrance in other repeat expansion disorders. Repeat interruptions within FGF14 have yet to be characterized in detail.<\/jats:p>\n                  <jats:p>We used long-range PCR, Sanger sequencing, repeat-primed PCR, Nanopore and PacBio sequencing to distinguish the repeat motifs, mosaicism and number of repeat interruptions present in FGF14-related ataxia patients and unaffected individuals.<\/jats:p>\n                  <jats:p>A total of 304 patients with late-onset ataxia and 190 unaffected individuals were previously screened for repeat expansions in FGF14 by long-range PCR, identifying 37 individuals with expanded repeat lengths (\u2265250 repeats). These, along with three newly identified expansion carriers were included in the present study, and advanced genetic methods were applied to investigate the repeat composition in 27 patients and 13 unaffected individuals. The expansions, based on Nanopore data, ranged from 236 to 486 repeats (standard deviation = 60), with 20 individuals showing repeat interruptions, including complex motifs such as GAG, GAAGGA, GAAGAAAGAA, GAAAAGAAGAAGGAAGAAGGAA, GAAAAGAAGAAGGAA and GCAGAAGAAGAAGAA. We calculated the longest pure GAA length from the long-read data for all 40 individuals. When comparing the pure GAA tract between patients and unaffected individuals, clusters were apparent based on &amp;gt;200 or &amp;lt;200 repeats. Five ataxia patients with interruptions still had a remaining pure GAA expansion &amp;lt;200. We observed an association of the pure GAA length with age at onset (P = 0.016, R2 = 0.256). Somatically incurred mosaic divergent repeat interruptions were discovered that affect motif length and sequence (mDRILS), which varied in number and mosaicism (frequency: 0.37\u20130.93). The mDRILS were correlated with pure GAA length (P = 0.022, R2 = 0.334), with a higher mosaic frequency of interruptions in unaffected individuals compared with patients (unaffected: 0.90; patients: 0.67; P = 0.009).<\/jats:p>\n                  <jats:p>We demonstrate that: (i) long-read sequencing is required to detect complex repeat interruptions accurately; (ii) repeat interruptions in FGF14 are mosaic, have various lengths and start positions in the repeat tract, and can thereby be annotated as mDRILS; which (iii) enabled us to establish a categorization based on remaining pure GAA repeats quantifying the impact of mDRILS on pathogenicity or age at onset, dependent on the interruption length and position, with high accuracy; and (iv) we provide evidence that mosaicism stabilizes pure GAA repeats in interrupted FGF14 repeat expansions.<\/jats:p>","DOI":"10.1093\/brain\/awaf183","type":"journal-article","created":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T08:12:06Z","timestamp":1747123926000},"page":"4072-4083","source":"Crossref","is-referenced-by-count":10,"title":["<i>FGF14<\/i>\n                    repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?"],"prefix":"10.1093","volume":"148","author":[{"given":"Joshua","family":"La\u00df","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1148-5493","authenticated-orcid":false,"given":"Mirja","family":"Thomsen","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Borsche","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]},{"name":"Department of Neurology, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"L\u00fcth","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia C","family":"Prietzsche","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susen","family":"Schaake","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andona","family":"Milovanovi\u0107","sequence":"additional","affiliation":[{"name":"Neurology Clinic, University Clinical Center of Serbia , Belgrade 11000 ,","place":["Serbia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Macpherson","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, UCL GOS Institute of Child Health , London WC1E 6BT ,","place":["UK"]},{"name":"Department of Neurodegenerative Diseases, Institute of Neurology, UCL , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0541-7537","authenticated-orcid":false,"given":"Emil K","family":"Gustavsson","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, UCL GOS Institute of Child Health , London WC1E 6BT ,","place":["UK"]},{"name":"Department of Neurodegenerative Diseases, Institute of Neurology, UCL , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Saffie Awad","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas, Universidade Federal do Rio Grande do Sul , Porto Alegre 90035003 ,","place":["Brazil"]},{"name":"Servicio de Neurolog\u00eda, Cl\u00ednica Santa Mar\u00eda , Santiago 7520349 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nata\u0161a","family":"Draga\u0161evi\u0107-Mi\u0161kovi\u0107","sequence":"additional","affiliation":[{"name":"Neurology Clinic, University Clinical Center of Serbia , Belgrade 11000 ,","place":["Serbia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f6rn-Hergen","family":"Laabs","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry and Statistics, University of L\u00fcbeck , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inke R","family":"K\u00f6nig","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry and Statistics, University of L\u00fcbeck , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8062-6959","authenticated-orcid":false,"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9545-4205","authenticated-orcid":false,"given":"Christopher E","family":"Pearson","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, The Hospital for Sick Children, Genetics & Genome Biology, University of Toronto , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]},{"name":"Department of Neurology, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Trinh","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,5,17]]},"reference":[{"key":"2025110518435855300_awaf183-B1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.ajhg.2022.11.015","article-title":"An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50\/ATX-FGF14","volume":"110","author":"Rafehi","year":"2023","journal-title":"Am J Hum Genet"},{"key":"2025110518435855300_awaf183-B2","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1056\/NEJMoa2207406","article-title":"Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia","volume":"388","author":"Pellerin","year":"2023","journal-title":"N Engl J Med"},{"key":"2025110518435855300_awaf183-B3","doi-asserted-by":"crossref","first-page":"14588","DOI":"10.1074\/jbc.273.23.14588","article-title":"Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the 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study","volume":"102","author":"Ouyang","year":"2024","journal-title":"EBioMedicine"},{"key":"2025110518435855300_awaf183-B6","doi-asserted-by":"crossref","first-page":"7665","DOI":"10.1038\/s41467-024-52148-1","article-title":"Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions","volume":"15","author":"Mohren","year":"2024","journal-title":"Nat Commun"},{"key":"2025110518435855300_awaf183-B7","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1002\/acn3.51936","article-title":"Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan","volume":"11","author":"Ando","year":"2024","journal-title":"Ann Clin Transl Neurol"},{"key":"2025110518435855300_awaf183-B8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1101\/gr.269530.120","article-title":"Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat 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locus","volume":"56","author":"Pellerin","year":"2024","journal-title":"Nat Genet"},{"key":"2025110518435855300_awaf183-B12","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.cell.2018.02.011","article-title":"Dissecting the causal mechanism of X-linked Dystonia-Parkinsonism by integrating genome and transcriptome assembly","volume":"172","author":"Aneichyk","year":"2018","journal-title":"Cell"},{"key":"2025110518435855300_awaf183-B13","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1002\/mds.27441","article-title":"Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism","volume":"33","author":"Rakovic","year":"2018","journal-title":"Mov Disord"},{"key":"2025110518435855300_awaf183-B14","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1093\/brain\/awac160","article-title":"Mosaic divergent repeat interruptions in XDP influence repeat stability and disease 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ataxia","volume":"30","author":"Iruzubieta","year":"2023","journal-title":"Eur J Neurol"},{"key":"2025110518435855300_awaf183-B18","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1007\/s00415-023-12050-0","article-title":"Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B","volume":"271","author":"Borsche","year":"2024","journal-title":"J Neurol"},{"key":"2025110518435855300_awaf183-B19","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1002\/mdc3.14020","article-title":"RFC1 and FGF14 repeat expansions in Serbian patients with cerebellar ataxia","volume":"11","author":"Milovanovic","year":"2024","journal-title":"Mov Disord Clin Pract"},{"key":"2025110518435855300_awaf183-B20","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1002\/mds.29390","article-title":"Shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean 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1 and fragile X syndrome","volume":"280","author":"Mulvihill","year":"2005","journal-title":"J Biol Chem"},{"key":"2025110518435855300_awaf183-B36","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1471-2091-14-33","article-title":"AGG\/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG\/CCG triplet repeats","volume":"14","author":"Volle","year":"2013","journal-title":"BMC Biochem"},{"key":"2025110518435855300_awaf183-B37","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.gene.2008.12.011","article-title":"The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions","volume":"434","author":"Hagerman","year":"2009","journal-title":"Gene"},{"key":"2025110518435855300_awaf183-B38","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/j.ajhg.2017.01.033","article-title":"Cpg methylation, a parent-of-origin effect for maternal-biased transmission of 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