{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T17:06:46Z","timestamp":1782493606586,"version":"3.54.5"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Repeat expansions in the fibroblast growth factor 14 gene (<jats:italic>FGF14<\/jats:italic>), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis. Initially, her symptoms were attributed to re-emergence of her cerebellar symptoms related to the static cerebellar lesion, and due to a failure of compensatory mechanisms with aging. However, the progressive nature of her cerebellar symptoms and the emergence of novel downbeat nystagmus prompted genetic testing for <jats:italic>FGF14<\/jats:italic> repeat expansion, confirming SCA27B as a significant contributor to her delayed, progressive cerebellar symptoms. This case highlights the significance of considering SCA27B in the differential diagnosis of delayed progressive cerebellar ataxia with oculomotor abnormalities in the presence of a static cerebellar lesion.<\/jats:p>","DOI":"10.1007\/s12311-025-01786-2","type":"journal-article","created":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T07:04:19Z","timestamp":1737011059000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Delayed Progression of Ataxia with a Static Cerebellar Lesion\u2013 Consider SCA27B"],"prefix":"10.1007","volume":"24","author":[{"given":"Tsz Hang","family":"Wong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie","family":"Manuputty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"van Seeters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"van de Warrenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,16]]},"reference":[{"issue":"2","key":"1786_CR1","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1056\/NEJMoa2207406","volume":"388","author":"D Pellerin","year":"2023","unstructured":"Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, et al. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar Ataxia. N Engl J Med. 2023;388(2):128\u201341.","journal-title":"N Engl J Med"},{"issue":"1","key":"1786_CR2","doi-asserted-by":"publisher","first-page":"e1504","DOI":"10.1002\/ctm2.1504","volume":"14","author":"D Pellerin","year":"2024","unstructured":"Pellerin D, Danzi MC, Renaud M, Houlden H, Synofzik M, Zuchner S, et al. Spinocerebellar ataxia 27B: a novel, frequent and potentially treatable ataxia. Clin Transl Med. 2024;14(1):e1504.","journal-title":"Clin Transl Med"},{"key":"1786_CR3","doi-asserted-by":"publisher","first-page":"104931","DOI":"10.1016\/j.ebiom.2023.104931","volume":"99","author":"JL Mereaux","year":"2024","unstructured":"Mereaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, et al. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine. 2024;99:104931.","journal-title":"EBioMedicine"},{"key":"1786_CR4","doi-asserted-by":"publisher","first-page":"104994","DOI":"10.1016\/j.ebiom.2024.104994","volume":"100","author":"BP van de Warrenburg","year":"2024","unstructured":"van de Warrenburg BP, Kamsteeg EJ. The FGF14 gene is a milestone in ataxia genetics. EBioMedicine. 2024;100:104994.","journal-title":"EBioMedicine"},{"issue":"1","key":"1786_CR5","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1002\/acn3.51936","volume":"11","author":"M Ando","year":"2024","unstructured":"Ando M, Higuchi Y, Yuan J, Yoshimura A, Kojima F, Yamanishi Y, et al. Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan. Ann Clin Transl Neurol. 2024;11(1):96\u2013104.","journal-title":"Ann Clin Transl Neurol"},{"key":"1786_CR6","doi-asserted-by":"publisher","first-page":"105077","DOI":"10.1016\/j.ebiom.2024.105077","volume":"102","author":"R Ouyang","year":"2024","unstructured":"Ouyang R, Wan L, Pellerin D, Long Z, Hu J, Jiang Q, et al. The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study. EBioMedicine. 2024;102:105077.","journal-title":"EBioMedicine"},{"key":"1786_CR7","doi-asserted-by":"crossref","unstructured":"Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C et al. Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy. medRxiv. 2024.02.16.24302945","DOI":"10.1101\/2024.02.16.24302945"},{"issue":"9","key":"1786_CR8","doi-asserted-by":"publisher","first-page":"1048","DOI":"10.1001\/jamaneurol.2017.1668","volume":"74","author":"MA Topcuoglu","year":"2017","unstructured":"Topcuoglu MA, Saka E, Silverman SB, Schwamm LH, Singhal AB. Recrudescence of deficits after stroke: clinical and imaging phenotype, triggers, and risk factors. JAMA Neurol. 2017;74(9):1048\u201355.","journal-title":"JAMA Neurol"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-025-01786-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-025-01786-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-025-01786-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T13:37:21Z","timestamp":1741700241000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-025-01786-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,16]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,4]]}},"alternative-id":["1786"],"URL":"https:\/\/doi.org\/10.1007\/s12311-025-01786-2","relation":{},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,16]]},"assertion":[{"value":"7 January 2025","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 January 2025","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient provided permission publication of medical information and images.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}},{"value":"B.W. has served on advisory boards and\/or provided paid consultancy to Biogen, Vico Therapeutics, and Biohaven. He also receives research support from ZonMw, Hersenstichting, Christina Foundation, FARA, Dutch Research Council, and Servier.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosure"}}],"article-number":"32"}}