{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T15:01:24Z","timestamp":1790348484891,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Deep intronic GAA repeat expansions in intron 1 of the\n                      <jats:italic>FGF14<\/jats:italic>\n                      gene were identified in 2023 as cause of late\u2010onset cerebellar ataxia. Since then, GAA\u2010\n                      <jats:italic>FGF14<\/jats:italic>\n                      \u2010related ataxia (SCA27B) has emerged as one of the most common genetic causes of late\u2010onset cerebellar ataxia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe the clinical, genetic, and imaging features of a large Dutch cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The Radboudumc genetic database was queried for GAA\u2010\n                      <jats:italic>FGF14<\/jats:italic>\n                      expansions \u2265200. Repeat length was assessed using locus\u2010spanning polymerase chain reaction (PCR), repeat\u2010primed PCR, and PacBio sequencing. A subset was validated using Oxford Nanopore. Clinical and imaging data were retrospectively reviewed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      127 individuals with GAA\u2010\n                      <jats:italic>FGF14<\/jats:italic>\n                      expansions \u2265200 were identified; clinical data were available from 116, including 109 symptomatic and 7 asymptomatic\/presymptomatic individuals. Fifteen individuals carried GAA\n                      <jats:sub>200\u2010249<\/jats:sub>\n                      expansions; 60% exhibited at least one core SCA27B feature. Episodic symptoms occurred in 72.5%; 24% had prior emergency department or outpatient transient ischemic attack clinic visits. Brain magnetic resonance imaging frequently showed non\u2010specific white matter abnormalities (&gt;90%); Superior cerebellar peduncle sign was present in 67.7%. Among those treated, 54.1% reported symptomatic benefit from 4\u2010aminopyridine. Nanopore and PacBio sequencing results showed high correlations. We observed an inverse relationship between age at onset and disease progression.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Core SCA27B features emerge in those carrying GAA\n                      <jats:sub>200\u2010249<\/jats:sub>\n                      expansions. SCA27B may mimic stroke in patients with episodic symptoms. In our cohort, later onset was associated with faster disease progression. The superior cerebellar peduncle sign may aid diagnosis, while relevance of white matter changes remains unclear. Positive response to 4\u2010aminopyridine was reported in approximately half of patients. \u00a9 2026 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.70190","type":"journal-article","created":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T12:35:43Z","timestamp":1767875743000},"page":"928-936","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical, Genetic, and Imaging Characteristics of\n                    <scp>SCA27B<\/scp>\n                    : Insights from a Large Dutch Cohort"],"prefix":"10.1002","volume":"41","author":[{"given":"Teije H.","family":"van Prooije","sequence":"first","affiliation":[{"name":"Department of Neurology Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maartje","family":"Pennings","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roderick P.P.W.M.","family":"Maas","sequence":"additional","affiliation":[{"name":"Department of Neurology Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"de Vries","sequence":"additional","affiliation":[{"name":"Expertise Center for Movement Disorders Groningen, Department of Neurology University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corien","family":"Verschuuren\u2010Bemelmans","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Odekerken","sequence":"additional","affiliation":[{"name":"Department of Neurology Amsterdam University Medical Center Amsterdam Neuroscience, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirwan K.L.","family":"Darweesh","sequence":"additional","affiliation":[{"name":"Department of Neurology Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Huisman","sequence":"additional","affiliation":[{"name":"Department of Neurology St. Antonius Hospital  Nieuwegein The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayke","family":"Oosterloo","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute for Mental Health and Neuroscience (MHeNs), Maastricht University Medical Center (MUMC+)  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur","family":"Buijink","sequence":"additional","affiliation":[{"name":"Department of Neurology Amsterdam University Medical Center Amsterdam Neuroscience, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaron","family":"van de Wardt","sequence":"additional","affiliation":[{"name":"Department of Neurology Haaglanden Medical Center (HMC)  The Hague The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Els","family":"Vanhoutte","sequence":"additional","affiliation":[{"name":"Department of Genetics Maastricht University Medical Center (MUMC+)  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsz Hang","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Neurology and Clinical Neurophysiology Martini Hospital  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2864-4225","authenticated-orcid":false,"given":"Lisette","family":"Koens","sequence":"additional","affiliation":[{"name":"Expertise Center for Movement Disorders Groningen, Department of Neurology University Medical Center Groningen  Groningen The Netherlands"},{"name":"Department of Neurology Isala Zwolle  Zwolle The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"de Boer","sequence":"additional","affiliation":[{"name":"Department of Neurology Brain Center Rudolf Magnus, University Medical Center Utrecht  Utrecht The 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