{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:23Z","timestamp":1787014163293,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T00:00:00Z","timestamp":1750809600000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Spinocerebellar ataxia type 27B (SCA27B), caused by a GAA repeat expansion in\n                      <jats:italic>FGF14<\/jats:italic>\n                      , is a recently described genetic etiology of idiopathic late\u2010onset cerebellar ataxia (ILOCA). Downbeat nystagmus (DBN) is increasingly recognized as a clinical hallmark of this condition. We aimed to assess the diagnostic value of video\u2010oculography (VOG) in detecting SCA27B and its role in monitoring response to 4\u2010aminopyridine (4\u2010AP) in a real\u2010world clinical setting.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We retrospectively analyzed patients with ILOCA referred to Fondation Rothschild Hospital (Paris, France) from February 2023 to January 2024. All underwent clinical, MRI, and VOG assessments, with genetic testing for\n                      <jats:italic>FGF14\u2010GAA<\/jats:italic>\n                      expansions. Clinical and oculomotor features of carriers (\u2265\u2009200 repeats) and non\u2010carriers were compared. A subset of symptomatic carriers received 4\u2010AP and were evaluated at baseline, 2\u2009months, and 8\u2009months using the Scale for the Assessment and Rating of Ataxia (SARA) and VOG.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twelve of 34 tested patients (35%) were\n                      <jats:italic>FGF14\u2010GAA<\/jats:italic>\n                      expansion carriers. DBN was significantly more frequent in carriers than in non\u2010carriers (92% vs. 33%,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.003), often associated with gaze\u2010evoked nystagmus (75% vs. 19%,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.005). MRI did not distinguish carriers from non\u2010carriers. Of the nine patients treated, all reported enhanced balance, which is corroborated by the improvement in the SARA score from a median of 5.5\u20133 at 2\u2009months (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.015), with sustained benefit at 8\u2009months.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>VOG is a key diagnostic tool for detecting DBN, which is strongly associated with SCA27B, facilitating targeted genetic testing. 4\u2010AP is an effective symptomatic treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70228","type":"journal-article","created":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T03:08:54Z","timestamp":1750820934000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Video\u2010Oculography as a Key Diagnostic Tool for\n                    <scp>SCA27B<\/scp>\n                    : A Real\u2010Life Experience"],"prefix":"10.1111","volume":"32","author":[{"given":"Sarah","family":"Coulette","sequence":"first","affiliation":[{"name":"Department of Neurology H\u00f4pital Fondation Rothschild  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7869-1815","authenticated-orcid":false,"given":"Augustin","family":"Lecler","sequence":"additional","affiliation":[{"name":"Department of Radiology H\u00f4pital Fondation Rothschild  Paris 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