{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T17:43:14Z","timestamp":1791567794928,"version":"4.3.4"},"reference-count":91,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T00:00:00Z","timestamp":1756857600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Federal Ministry of Research and Education","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Hereditary adult-onset ataxias are a heterogeneous group of phenotypically overlapping conditions, often caused by pathogenic expansions of short tandem repeats. Currently, 18 repeat disorders with a core phenotype of adult-onset ataxia are known. Diagnosis typically relies on sequential PCR-based methods, which are labour-intensive and lack precision. Long-read sequencing (LRS) has the potential to overcome these limitations and is currently implemented and validated in clinical genetics. Using clinical nanopore Cas9-targeted sequencing (Clin-CATS) for parallel in-depth repeat analysis, we evaluated a diagnostic cohort of 513 adult-onset ataxia patients, determining frequencies of all known repeat-associated ataxias except Spinocerebellar ataxia 4 (SCA4), as well as the carrier frequencies for autosomal-recessive disorders, RFC1 spectrum disorder and Friedreich\u2019s ataxia (FRDA). Additionally, phenotypes of patients with established genetic diagnoses were characterized, especially those of patients living with RFC1 spectrum disorder and SCA27B.<\/jats:p>\n                  <jats:p>Repeat-associated ataxias were confirmed in 33.3% of cases, including rare ataxias, such as SCA10, SCA36 and SCA37, alongside as the most prevalent conditions SCA27B and RFC1 spectrum disorder. Potentially pathogenic expansions in FGF14 were identified in an additional 4.7% of patients. Testing of another 347 patients for ZFHX3 expansions linked to SCA4 did not identify any cases. Dual diagnoses were frequent, occurring in 6.4% of patients with repeat-associated ataxia. We confirmed a high RFC1 spectrum disorder carrier frequency (7.2%) and reclassified certain FXN expansions as likely non-pathogenic, resulting in a lower than estimated carrier frequency for FRDA of 0.8%. We also identified novel repeat configurations in several loci and illustrated the high heterogeneity of repeat expansions in RFC1, highlighting it as a potential source of false results when using PCR-based methods. This study underscores the diagnostic advantages of LRS for comprehensive repeat analysis and recommends its adoption as a standard in clinical genetics, replacing Southern blot and PCR-based approaches. Furthermore, based on our findings in a large patient cohort a re-evaluation of existing phenotype-genotype correlations is recommended as well as evaluating additional parameters alongside the repeat length to improve diagnostic precision of repeat analysis.<\/jats:p>","DOI":"10.1093\/brain\/awaf318","type":"journal-article","created":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T11:26:17Z","timestamp":1756725977000},"page":"993-1006","source":"Crossref","is-referenced-by-count":11,"title":["Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing"],"prefix":"10.1093","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2620-1850","authenticated-orcid":false,"given":"Hannes","family":"Erdmann","sequence":"first","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]},{"name":"Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 80336 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Schaub","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]},{"name":"Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 80336 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7654-9137","authenticated-orcid":false,"given":"Morghan C","family":"Lucas","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]},{"name":"Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 80336 Munich ,","place":["Germany"]},{"name":"Department of Medicine IV, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 80336 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Scholz","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Benet-Pag\u00e8s","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]},{"name":"Institute of Neurogenomics, Helmholtz Center Munich , 85764 Neuherberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Becker","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Dineiger","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Mayer","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"van Buren","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Breithausen","sequence":"additional","affiliation":[{"name":"Medical Genetics Center (MGZ) Munich , 80335 Munich 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,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Augsburg , 86156 Augsburg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Krakowsky","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Leipzig Medical Center , 04103 Leipzig ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Schnabel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Leipzig Medical Center , 04103 Leipzig ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstanze","family":"Dunker","sequence":"additional","affiliation":[{"name":"German Center for Vertigo and Balance Disorders, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 81377 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Fabritius","sequence":"additional","affiliation":[{"name":"German Center for Vertigo and Balance Disorders, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 81377 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5053-1462","authenticated-orcid":false,"given":"Johannes","family":"Gerb","sequence":"additional","affiliation":[{"name":"German Center for Vertigo and Balance Disorders, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 81377 Munich ,","place":["Germany"]},{"name":"Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 81377 Munich 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for Neurodegenerative Diseases (DZNE) Munich, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 81377 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Schneider-Gold","sequence":"additional","affiliation":[{"name":"Department of Neurology, St Josef Hospital, Ruhr-University of Bochum , 44791 Bochum ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Zittel","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Hamburg-Eppendorf , 20246 Hamburg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Petersen","sequence":"additional","affiliation":[{"name":"Praxis f\u00fcr Humangenetik, Zentrum f\u00fcr Ambulante Medizin, Institute of Human Genetics, University of Jena , 07743 Jena 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Neurodegenerative Diseases (DZNE) Munich, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 81377 Munich ,","place":["Germany"]},{"name":"Munich Center for Systems Neurology (SyNergy) , 81377 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcnter U","family":"H\u00f6glinger","sequence":"additional","affiliation":[{"name":"Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 81377 Munich ,","place":["Germany"]},{"name":"German Center for Neurodegenerative Diseases (DZNE) Munich, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , 81377 Munich ,","place":["Germany"]},{"name":"Munich Center for Systems Neurology (SyNergy) , 81377 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doreen","family":"Huppert","sequence":"additional","affiliation":[{"name":"German Center for Vertigo and Balance Disorders, LMU University Hospital, 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,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6401-2180","authenticated-orcid":false,"given":"Fabian","family":"Kilpert","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen , 45122 Essen ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Leit\u00e3o","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen , 45122 Essen ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Kaya","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen , 45122 Essen 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