{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T17:26:27Z","timestamp":1786123587428,"version":"build-2736575974"},"reference-count":14,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Neurol"],"abstract":"<jats:p>Introduction: Spinocerebellar ataxia type 27B (SCA27B) is a late-onset autosomal dominant cerebellar disorder associated with oculomotor abnormalities, particularly downbeat nystagmus (DBN) and saccadic oscillations such as square-wave jerks (SWJ). Although these features are common, their longitudinal evolution and response to aminopyridine therapy remain insufficiently characterized. Case Presentation: We report a 67-year-old male with genetically confirmed SCA27B. At baseline, he presented with cerebellar ataxia (SARA score 11) and frequent SWJ, while DBN was detectable only during head-shaking. After 12 months, mild clinical progression was observed (SARA score 12) with the emergence of spontaneous DBN, which intensified during provocative maneuvers. Treatment with 4-aminopyridine (20 mg\/day) resulted in clinical improvement after 2 months, reflected by a reduced SARA score (8) and improved gait, stance, and speech. However, video-oculography showed only minimal changes in DBN and no significant reduction in SWJ frequency. Conclusion: This case highlights that DBN in SCA27B may initially be detectable only under provocative conditions before becoming spontaneous. Despite clinical improvement with 4-aminopyridine, objective oculomotor parameters remained largely unchanged, suggesting a possible dissociation between clinical and oculomotor outcomes. Larger longitudinal studies are needed to clarify these relationships.<\/jats:p>","DOI":"10.1159\/000552966","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T16:01:03Z","timestamp":1782403263000},"page":"436-441","source":"Crossref","is-referenced-by-count":0,"title":["Downbeat Nystagmus and Saccadic Oscillations in Spinocerebellar Ataxia Type 27B: A 14-Month Follow-Up Case Report"],"prefix":"10.1159","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5630-9822","authenticated-orcid":false,"given":"Pavol","family":"Skacik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7864-6560","authenticated-orcid":false,"given":"Monika Turcanova","family":"Koprusakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0348-3082","authenticated-orcid":false,"given":"Stefan","family":"Sivak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0464-0497","authenticated-orcid":false,"given":"Milan","family":"Grofik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1025-6830","authenticated-orcid":false,"given":"Egon","family":"Kurca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,6,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2024.355"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-025-01906-y"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-025-13422-4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/ene.70228"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.14802\/jmd.18018"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad157"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11868-y"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1101\/2023.07.30.23293380"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000321"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304736"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-021-01361-5"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-025-01945-5"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000002452"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e32835c5e1d"}],"container-title":["Case Reports in Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000552966","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:00:49Z","timestamp":1786118449000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000552966"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,25]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000552966","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.32778705","asserted-by":"subject"}]},"ISSN":["1662-680X"],"issn-type":[{"value":"1662-680X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,25]]}}}