{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:01Z","timestamp":1786978261917,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T00:00:00Z","timestamp":1743206400000},"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":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Spinocerebellar ataxia 27A (SCA27A) is a rare neurodegenerative disorder characterized by childhood\u2010onset tremor and progressive cerebellar dysfunction. SCA27A is usually caused by loss\u2010of\u2010function\n                      <jats:italic>FGF14<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      We report the identification of a novel\n                      <jats:italic>FGF14<\/jats:italic>\n                      variant in a five\u2010generation family with autosomal dominant ataxia and describe the clinical phenotype and response to subthalamic nucleus deep brain stimulation (STN\u2010DBS) and 4\u2010aminopyridine (4\u2010AP).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole genome sequencing was performed on the proband, two affected sisters (Patients 2 and 3), and one unaffected sister (III5). Sanger sequencing was performed to confirm the variant and sequence additional family members.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A novel heterozygous in\u2010frame deletion (p.Val119del) in\n                      <jats:italic>FGF14<\/jats:italic>\n                      was identified in this family affected by childhood\u2010onset tremor followed by late\u2010onset progressive ataxia. Two patients showed significant tremor reduction following STN\u2010DBS and balance improvement with 4\u2010AP.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We identified a novel likely pathogenic\n                      <jats:italic>FGF14<\/jats:italic>\n                      variant segregating in a family with SCA27A. Additionally, we suggest STN\u2010DBS and 4\u2010AP as promising treatment options for this condition. \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.30183","type":"journal-article","created":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T04:54:52Z","timestamp":1744692892000},"page":"1182-1188","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel In\u2010Frame\n                    <scp>\n                      <i>FGF14<\/i>\n                    <\/scp>\n                    Deletion Causes Spinocerebellar Ataxia Type\n                    <scp>27A<\/scp>\n                    : Clinical Response to Deep Brain Stimulation and 4\u2010Aminopyridine"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0979-6001","authenticated-orcid":false,"given":"Ignacio J.","family":"Keller Sarmiento","sequence":"first","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Bovenzi","sequence":"additional","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"},{"name":"Department of Systems Medicine University of Rome Tor Vergata  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgan","family":"Kinsinger","sequence":"additional","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Kinsley","sequence":"additional","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernabe I.","family":"Bustos","sequence":"additional","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitri","family":"Krainc","sequence":"additional","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3383-9665","authenticated-orcid":false,"given":"Niccol\u00f2 E.","family":"Mencacci","sequence":"additional","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64189-2.00010-X"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2007.07.006"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/345488"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.11.015"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2207406"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad157"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27771"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz431"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.225672.117"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03819-2"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2663-14.2015"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.436"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.10.006"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0436-7"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.04.014"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.13052"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.1048530"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15339"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2003.99.4.0708"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ctm2.1504"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep29489"}],"container-title":["Movement 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