{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T12:41:03Z","timestamp":1792586463315,"version":"4.5.0"},"reference-count":38,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T00:00:00Z","timestamp":1755561600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      An intronic (GAA)\u2022(TTC) repeat expansion in\n                      <jats:italic>FGF14<\/jats:italic>\n                      was recently identified as the cause of spinocerebellar ataxia 27B (SCA27B), a disorder presenting with both chronic cerebellar ataxia and episodic symptoms. The phenotype of SCA27B overlaps with that of\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      spectrum disorders.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      The objective of this work was to investigate the prevalence of GAA\u2010\n                      <jats:italic>FGF14<\/jats:italic>\n                      repeat expansions in patients with ataxia so far considered to be related to underlying\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This is a cross\u2010sectional multicenter study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      GAA\u2010\n                      <jats:italic>FGF14<\/jats:italic>\n                      testing showed pathogenic expansions (\u2265250 repeats) in 6\/67 (9%) patients carrying\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      variants. All patients with a pathogenic GAA\u2010\n                      <jats:italic>FGF14<\/jats:italic>\n                      expansion had a disease onset &gt;40\u2009years and carried variants of uncertain significance (VUSs) in\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      . Genetic reevaluation led to the reclassification of\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      VUSs as likely benign in four of six patients, who were ultimately diagnosed with SCA27B.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Late\u2010onset ataxia cases previously considered as\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      \u2010related disorder should be reevaluated and tested for SCA27B, particularly if related to a VUS in\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      . \u00a9 2025 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.30328","type":"journal-article","created":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T09:04:07Z","timestamp":1755594247000},"page":"2262-2268","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>GAA<\/scp>\n                    \u2010\n                    <scp>\n                      <i>FGF14<\/i>\n                    <\/scp>\n                    Expansions and\n                    <scp>\n                      <i>CACNA1A<\/i>\n                    <\/scp>\n                    Variants: Phenotypic Overlap and Diagnostic Implications"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0217-8630","authenticated-orcid":false,"given":"Elisabetta","family":"Indelicato","sequence":"first","affiliation":[{"name":"Center for Rare Movement Disorders Innsbruck, Department of Neurology Medical University Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zofia","family":"Fleszar","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research  T\u00fcbingen Germany"},{"name":"German Center for Neurodegenerative Diseases  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Institute McGill University  Montreal Quebec Canada"},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Nachbauer","sequence":"additional","affiliation":[{"name":"Center for Rare Movement Disorders Innsbruck, Department of Neurology Medical University Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8165-5898","authenticated-orcid":false,"given":"Andreas","family":"Trasch\u00fctz","sequence":"additional","affiliation":[{"name":"German Center for Neurodegenerative Diseases  T\u00fcbingen Germany"},{"name":"Division Translational Genomics of Neurodegenerative Diseases, Hertie\u2010Institute for Clinical Brain Research and Center of Neurology University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Amprosi","sequence":"additional","affiliation":[{"name":"Center for Rare Movement Disorders Innsbruck, Department of Neurology Medical University Innsbruck  Innsbruck 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