{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T21:46:52Z","timestamp":1793828812437,"version":"4.6.1"},"reference-count":117,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006447","name":"University of Zurich","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006447","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Oculomotor deficits are common in hereditary cerebellar ataxias (HCAs) and their quantitative assessment offers a sensitive and reliable manner to capture disease-severity and progression. As a group of experts of the Ataxia Global Initiative to support trial readiness, we previously established harmonized methodology for quantitative oculomotor assessments in HCAs. Here, we aimed to identify to most promising oculomotor\/vestibular outcomes as endpoints for future trials. Through a systematic MEDLINE search we identified 130 articles reporting oculomotor\/vestibular recordings in patients with HCAs. A total of 2,018 subjects were included: 1,776 with genetically-confirmed and 242 with clinically-defined HCAs. Studied diseases included spinocerebellar ataxias (SCA) 1\/2\/3\/6\/7\/27B, episodic ataxia type 2, Friedreich ataxia, RFC1-related ataxia, fragile X-associated tremor\/ataxia syndrome, cerebrotendinous xanthomatosis, ataxia-telangiectasia, ataxia with oculomotor apraxia types 1&amp;2, and Niemann-Pick disease type C. We identified up to four oculomotor\/vestibular outcomes per diagnostic entity, based on their ability to robustly discriminate patients from controls, correlate with disease-severity, detect longitudinal change, and represent different disease stages. For each parameter we provide recommendations for recordings. While the implementation of quantitative assessments into clinical trials offers a unique opportunity to track dysfunction of oculomotor\/vestibular networks and to assess the impact of interventions, in some HCAs, endpoint qualification of available outcomes requires further validation to characterize their reliability, sensitivity to change, and minimally important change to patients. For all HCAs for which quantitative data are scarce or lacking, there is an urgent need for prospective studies covering a broader range of oculomotor\/vestibular domains as approaching new treatments require harmonized and reliable endpoints.<\/jats:p>","DOI":"10.1007\/s12311-025-01894-z","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T07:16:00Z","timestamp":1755069360000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital\u2011Motor Biomarkers"],"prefix":"10.1007","volume":"24","author":[{"given":"Elena","family":"Pretegiani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Garces","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrystalina A.","family":"Antoniades","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sobanska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Kovacs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah H.","family":"Ying","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anoopum S.","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Perlman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Szmulewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Pane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea H.","family":"N\u00e9meth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura B.","family":"Jardim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Coarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Kuzmiak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andona","family":"Milovanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Trasch\u00fctz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander A.","family":"Tarnutzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,8,13]]},"reference":[{"key":"1894_CR1","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","volume":"66","author":"T Schmitz-Hubsch","year":"2006","unstructured":"Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schols L, Szymanski S, van de Warrenburg BP, Durr A, Klockgether T, Fancellu R. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717\u201320. https:\/\/doi.org\/10.1212\/01.wnl.0000219042.60538.92.","journal-title":"Neurology"},{"key":"1894_CR2","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/s0022-510x(96)00231-6","volume":"145","author":"P Trouillas","year":"1997","unstructured":"Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B, The Ataxia Neuropharmacology Committee of the World Federation of Neurology. International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci. 1997;145:205\u201311. https:\/\/doi.org\/10.1016\/s0022-510x(96)00231-6.","journal-title":"J Neurol Sci"},{"key":"1894_CR3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2022.120472","volume":"443","author":"AG Shaikh","year":"2022","unstructured":"Shaikh AG, Kim JS, Froment C, Koo YJ, Dupre N, Hadjivassiliou M, Honnorat J, Kothari S, Mitoma H, Rodrigue X, Soong BW, Subramony SH, Strupp M, Schmahmann J, Manto M. Scale for ocular motor disorders in ataxia (SODA). J Neurol Sci. 2022;443: 120472. https:\/\/doi.org\/10.1016\/j.jns.2022.120472.","journal-title":"J Neurol Sci"},{"key":"1894_CR4","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-023-01559-9","author":"P Garces","year":"2023","unstructured":"Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Nemeth AH, Jardim LB, Coarelli G, Dankova M, Traschutz A, Tarnutzer AA. Quantitative oculomotor assessment in hereditary ataxia: systematic review and consensus by the Ataxia Global Initiative working group on digital-motor biomarkers. Cerebellum. 2023. https:\/\/doi.org\/10.1007\/s12311-023-01559-9.","journal-title":"Cerebellum"},{"key":"1894_CR5","unstructured":"Group. F-NBW. BEST (Biomarkers, EndpointS, and other Tools) Resource [Internet]. Silver Spring (MD): Food and Drug Administration (US); 2016"},{"key":"1894_CR6","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-023-01514-8","author":"P Garces","year":"2023","unstructured":"Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Nemeth AH, Jardim LB, Coarelli G, Dankova M, Traschutz A, Tarnutzer AA. Quantitative oculomotor assessment in hereditary ataxia: discriminatory power, correlation with severity measures, and recommended parameters for specific genotypes. Cerebellum. 2023. https:\/\/doi.org\/10.1007\/s12311-023-01514-8.","journal-title":"Cerebellum"},{"key":"1894_CR7","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1002\/mds.26527","volume":"31","author":"C Marras","year":"2016","unstructured":"Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C. Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force. Mov Disord. 2016;31:436\u201357. https:\/\/doi.org\/10.1002\/mds.26527.","journal-title":"Mov Disord"},{"key":"1894_CR8","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1002\/mds.27415","volume":"33","author":"M Rossi","year":"2018","unstructured":"Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP, International P, Movement Disorder Society Task Force on C, Nomenclature of Genetic Movement D. The genetic nomenclature of recessive cerebellar ataxias. Mov Disord. 2018;33:1056\u201376. https:\/\/doi.org\/10.1002\/mds.27415.","journal-title":"Mov Disord"},{"key":"1894_CR9","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1007\/s12311-019-01052-2","volume":"18","author":"M Beaudin","year":"2019","unstructured":"Beaudin M, Matilla-Duenas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N. The classification of autosomal recessive cerebellar ataxias: a consensus statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum. 2019;18:1098\u2013125. https:\/\/doi.org\/10.1007\/s12311-019-01052-2.","journal-title":"Cerebellum"},{"key":"1894_CR10","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-15127-9","volume":"7","author":"LL Mariani","year":"2017","unstructured":"Mariani LL, Rivaud-Pechoux S, Charles P, Ewenczyk C, Meneret A, Monga BB, Fleury MC, Hainque E, Maisonobe T, Degos B, Echaniz-Laguna A, Renaud M, Wirth T, Grabli D, Brice A, Vidailhet M, Stoppa-Lyonnet D, Dubois-d\u2019Enghien C, Le Ber I, Koenig M, Roze E, Tranchant C, Durr A, Gaymard B, Anheim M. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. Sci Rep. 2017;7: 15284. https:\/\/doi.org\/10.1038\/s41598-017-15127-9.","journal-title":"Sci Rep"},{"key":"1894_CR11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1000100","volume":"6","author":"A Liberati","year":"2009","unstructured":"Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gotzsche PC, Ioannidis JP, Clarke M, Devereaux PJ, Kleijnen J, Moher D. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. PLoS Med. 2009;6: e1000100. https:\/\/doi.org\/10.1371\/journal.pmed.1000100.","journal-title":"PLoS Med"},{"key":"1894_CR12","unstructured":"Group F-NBW. BEST (Biomarkers, EndpointS, and other Tools). Silver Spring (MD), USA: Food and Drug Administration (US); 2016"},{"key":"1894_CR13","doi-asserted-by":"publisher","first-page":"1763","DOI":"10.1213\/ANE.0000000000002864","volume":"126","author":"P Schober","year":"2018","unstructured":"Schober P, Boer C, Schwarte LA. Correlation coefficients: appropriate use and interpretation. Anesth Analg. 2018;126:1763\u20138. https:\/\/doi.org\/10.1213\/ANE.0000000000002864.","journal-title":"Anesth Analg"},{"key":"1894_CR14","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1002\/mdc3.13449","volume":"9","author":"YA McLennan","year":"2022","unstructured":"McLennan YA, Mosconi MW, McKenzie FJ, Famula J, Krawchuk B, Kim K, Clark CJ, Hessl D, Rivera SM, Simon TJ, Tassone F, Hagerman RJ. Prosaccade and antisaccade behavior in fragile X-associated tremor\/ataxia syndrome progression. Mov Disord Clin Pract. 2022;9:473\u20138. https:\/\/doi.org\/10.1002\/mdc3.13449.","journal-title":"Mov Disord Clin Pract"},{"key":"1894_CR15","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1037\/neu0000066","volume":"28","author":"LM Wong","year":"2014","unstructured":"Wong LM, Goodrich-Hunsaker NJ, McLennan Y, Tassone F, Zhang M, Rivera SM, Simon TJ. Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. Neuropsychology. 2014;28:571\u201384. https:\/\/doi.org\/10.1037\/neu0000066.","journal-title":"Neuropsychology"},{"key":"1894_CR16","doi-asserted-by":"publisher","first-page":"1271158","DOI":"10.3389\/fnhum.2023.1271158","volume":"17","author":"H Fielding-Gebhardt","year":"2023","unstructured":"Fielding-Gebhardt H, Kelly SE, Unruh KE, Schmitt LM, Pulver SL, Khemani P, Mosconi MW. Sensorimotor and inhibitory control in aging FMR1 premutation carriers. Front Hum Neurosci. 2023;17:1271158. https:\/\/doi.org\/10.3389\/fnhum.2023.1271158.","journal-title":"Front Hum Neurosci"},{"key":"1894_CR17","doi-asserted-by":"publisher","first-page":"2070","DOI":"10.1007\/s00415-020-09796-2","volume":"267","author":"J Havla","year":"2020","unstructured":"Havla J, Moser M, Sztatecsny C, Lotz-Havla AS, Maier EM, Hizli B, Schinner R, K\u00fcmpfel T, Strupp M, Bremova-Ertl T, Schneider SA. Retinal axonal degeneration in Niemann-Pick type C disease. J Neurol. 2020;267:2070\u201382. https:\/\/doi.org\/10.1007\/s00415-020-09796-2.","journal-title":"J Neurol"},{"key":"1894_CR18","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/s40673-017-0078-2","volume":"4","author":"R Rodr\u00edguez-Labrada","year":"2017","unstructured":"Rodr\u00edguez-Labrada R, V\u00e1zquez-Mojena Y, Canales-Ochoa N, Medrano-Montero J, Vel\u00e1zquez-P\u00e9rez L. Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker. Cerebellum Ataxias. 2017;4:19. https:\/\/doi.org\/10.1186\/s40673-017-0078-2.","journal-title":"Cerebellum Ataxias"},{"key":"1894_CR19","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1002\/acn3.504","volume":"5","author":"K Reetz","year":"2018","unstructured":"Reetz K, Rodr\u00edguez-Labrada R, Dogan I, Mirzazade S, Romanzetti S, Schulz JB, Cruz-Rivas EM, Alvarez-Cuesta JA, Aguilera Rodr\u00edguez R, Gonzalez Zaldivar Y, Auburger G, Vel\u00e1zquez-P\u00e9rez L. Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2. Ann Clin Transl Neurol. 2018;5:128\u201337. https:\/\/doi.org\/10.1002\/acn3.504.","journal-title":"Ann Clin Transl Neurol"},{"key":"1894_CR20","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-023-01552-2","author":"Z Elyoseph","year":"2023","unstructured":"Elyoseph Z, Geisinger D, Zaltzman R, Mintz M, Gordon CR. Horizontal vestibulo-ocular reflex deficit as a biomarker for clinical disease onset, severity, and progression of Machado-Joseph disease. Cerebellum. 2023. https:\/\/doi.org\/10.1007\/s12311-023-01552-2.","journal-title":"Cerebellum"},{"key":"1894_CR21","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1111\/cns.12676","volume":"23","author":"C Wu","year":"2017","unstructured":"Wu C, Chen DB, Feng L, Zhou XX, Zhang JW, You HJ, Liang XL, Pei Z, Li XH. Oculomotor deficits in spinocerebellar ataxia type 3: potential biomarkers of preclinical detection and disease progression. CNS Neurosci Ther. 2017;23:321\u20138. https:\/\/doi.org\/10.1111\/cns.12676.","journal-title":"CNS Neurosci Ther"},{"key":"1894_CR22","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28466","author":"CM de Oliveira","year":"2021","unstructured":"de Oliveira CM, Leotti VB, Bolzan G, Cappelli AH, Rocha AG, Ecco G, Kersting N, Rieck M, Martins AC, Sena LS, Saraiva-Pereira ML, Jardim LB. Pre-ataxic Changes of Clinical Scales and Eye Movement in Machado-Joseph Disease: BIGPRO Study. Movement disorders\u202f: official journal of the Movement Disorder Society. 2021. https:\/\/doi.org\/10.1002\/mds.28466.","journal-title":"Movement disorders : official journal of the Movement Disorder Society"},{"key":"1894_CR23","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1001\/archneur.65.4.530","volume":"65","author":"P Christova","year":"2008","unstructured":"Christova P, Anderson JH, Gomez CM. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol. 2008;65:530\u20136. https:\/\/doi.org\/10.1001\/archneur.65.4.530.","journal-title":"Arch Neurol"},{"key":"1894_CR24","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1196\/annals.1325.059","volume":"1039","author":"C Seifried","year":"2005","unstructured":"Seifried C, Vel\u00e1zquez-P\u00e9rez L, Santos-Falc\u00f3n N, Abele M, Ziemann U, Almaguer LE, Mart\u00ednez-G\u00f3ngora E, S\u00e1nchez-Cruz G, Canales N, P\u00e9rez-Gonz\u00e1lez R, Vel\u00e1zquez-Manresa M, Viebahn B, Stuckrad-Barre S, Klockgether T, Fetter M, Auburger G. Saccade velocity as a surrogate disease marker in spinocerebellar ataxia type 2. Ann N Y Acad Sci. 2005;1039:524\u20137. https:\/\/doi.org\/10.1196\/annals.1325.059.","journal-title":"Ann N Y Acad Sci"},{"key":"1894_CR25","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1002\/mds.26532","volume":"31","author":"R Rodr\u00edguez-Labrada","year":"2016","unstructured":"Rodr\u00edguez-Labrada R, Vel\u00e1zquez-P\u00e9rez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, V\u00e1zquez-Mojena Y, Gonz\u00e1lez-Zaldivar Y. Spinocerebellar ataxia type 2: measures of saccade changes improve power for clinical trials. Mov Disord. 2016;31:570\u20138. https:\/\/doi.org\/10.1002\/mds.26532.","journal-title":"Mov Disord"},{"key":"1894_CR26","doi-asserted-by":"publisher","first-page":"1672","DOI":"10.1007\/s00415-020-09756-w","volume":"267","author":"SU Lee","year":"2020","unstructured":"Lee SU, Kim JS, Kim HJ, Choi JY, Park JY, Kim JM, Yang X. Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6. J Neurol. 2020;267:1672\u20138. https:\/\/doi.org\/10.1007\/s00415-020-09756-w.","journal-title":"J Neurol"},{"key":"1894_CR27","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","volume":"6","author":"MC Patterson","year":"2007","unstructured":"Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007;6:765\u201372. https:\/\/doi.org\/10.1016\/S1474-4422(07)70194-1.","journal-title":"Lancet Neurol"},{"key":"1894_CR28","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1016\/j.ymgme.2009.12.006","volume":"99","author":"JE Wraith","year":"2010","unstructured":"Wraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Patterson MC. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010;99:351\u20137. https:\/\/doi.org\/10.1016\/j.ymgme.2009.12.006.","journal-title":"Mol Genet Metab"},{"key":"1894_CR29","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1177\/0883073809344222","volume":"25","author":"MC Patterson","year":"2010","unstructured":"Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol. 2010;25:300\u20135. https:\/\/doi.org\/10.1177\/0883073809344222.","journal-title":"J Child Neurol"},{"key":"1894_CR30","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1186\/s13023-015-0377-8","volume":"10","author":"LA Abel","year":"2015","unstructured":"Abel LA, Walterfang M, Stainer MJ, Bowman EA, Velakoulis D. Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick type C disease during treatment with miglustat. Orphanet J Rare Dis. 2015;10:160. https:\/\/doi.org\/10.1186\/s13023-015-0377-8.","journal-title":"Orphanet J Rare Dis"},{"key":"1894_CR31","doi-asserted-by":"publisher","first-page":"2106","DOI":"10.1007\/s00415-015-7819-z","volume":"262","author":"EA Bowman","year":"2015","unstructured":"Bowman EA, Walterfang M, Abel L, Desmond P, Fahey M, Velakoulis D. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. J Neurol. 2015;262:2106\u201314. https:\/\/doi.org\/10.1007\/s00415-015-7819-z.","journal-title":"J Neurol"},{"key":"1894_CR32","doi-asserted-by":"publisher","first-page":"227","DOI":"10.5582\/irdr.2024.01056","volume":"13","author":"H Zhang","year":"2024","unstructured":"Zhang H, Xiong H, Wei C, Yi M, Che Y, Zhuo J, Li X. Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: a prospective, open-label, single-arm, phase IV trial. Intract Rare Dis Res. 2024;13:227\u201335. https:\/\/doi.org\/10.5582\/irdr.2024.01056.","journal-title":"Intract Rare Dis Res"},{"key":"1894_CR33","doi-asserted-by":"publisher","first-page":"1793","DOI":"10.1007\/s11064-011-0496-0","volume":"36","author":"L Vel\u00e1zquez-P\u00e9rez","year":"2011","unstructured":"Vel\u00e1zquez-P\u00e9rez L, Rodr\u00edguez-Chanfrau J, Garc\u00eda-Rodr\u00edguez JC, S\u00e1nchez-Cruz G, Aguilera-Rodr\u00edguez R, Rodr\u00edguez-Labrada R, Rodr\u00edguez-D\u00edaz JC, Canales-Ochoa N, Gotay DA, Almaguer Mederos LE, Laffita Mesa JM, Porto-Verdecia M, Triana CG, Pupo NR, Batista IH, L\u00f3pez-Hernandez OD, Polanco ID, Novas AJ. Oral zinc sulphate supplementation for six months in SCA2 patients: a randomized, double-blind, placebo-controlled trial. Neurochem Res. 2011;36:1793\u2013800. https:\/\/doi.org\/10.1007\/s11064-011-0496-0.","journal-title":"Neurochem Res"},{"key":"1894_CR34","doi-asserted-by":"publisher","first-page":"1516","DOI":"10.1002\/mds.29045","volume":"37","author":"R Rodriguez-Labrada","year":"2022","unstructured":"Rodriguez-Labrada R, Ortega-Sanchez R, Hernandez Casana P, Santos Morales O, Padron-Estupinan MDC, Batista-Nunez M, Jimenez Rodriguez D, Canales-Ochoa N, Pena Acosta A, Medrano Montero J, Labrada Aguilera PE, Estupinan Rodriguez A, Vazquez-Mojena Y, Almaguer Gotay D, Aymed-Garcia J, Garcia-Garcia I, Torres Vega R, Viada Gonzalez C, Valenzuela Silva CM, Silva Ricardo Y, Columbie Ximelis J, Tribin Rivero K, Valle Cabrera R, Garcia-Rodriguez JC, Crombet Ramos T, Amaro-Gonzalez D, Rodriguez-Obaya T, Velazquez-Perez L. Erythropoietin in spinocerebellar ataxia type 2: feasibility and proof-of-principle issues from a randomized controlled study. Mov Disord. 2022;37:1516\u201325. https:\/\/doi.org\/10.1002\/mds.29045.","journal-title":"Mov Disord"},{"key":"1894_CR35","doi-asserted-by":"publisher","first-page":"2728","DOI":"10.1007\/s00415-013-7046-4","volume":"260","author":"AG Shaikh","year":"2013","unstructured":"Shaikh AG, Marti S, Tarnutzer AA, Palla A, Crawford TO, Zee DS, Straumann D. Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia. J Neurol. 2013;260:2728\u201335. https:\/\/doi.org\/10.1007\/s00415-013-7046-4.","journal-title":"J Neurol"},{"key":"1894_CR36","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1177\/08830738211028394","volume":"37","author":"A Brueggemann","year":"2022","unstructured":"Brueggemann A, Bicvic A, Goeldlin M, Kalla R, Kerkeni H, Mantokoudis G, Abegg M, Kolnikova M, Mohaupt M, Bremova-Ertl T. Effects of Acetyl-DL-Leucine on ataxia and downbeat-nystagmus in six patients with ataxia telangiectasia. J Child Neurol. 2022;37:20\u20137. https:\/\/doi.org\/10.1177\/08830738211028394.","journal-title":"J Child Neurol"},{"key":"1894_CR37","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2024.105076","volume":"102","author":"D Pellerin","year":"2024","unstructured":"Pellerin D, Heindl F, Wilke C, Danzi MC, Traschutz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. EBioMedicine. 2024;102: 105076. https:\/\/doi.org\/10.1016\/j.ebiom.2024.105076.","journal-title":"EBioMedicine"},{"key":"1894_CR38","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28491","author":"JT Coin","year":"2021","unstructured":"Coin JT, Vance JM. Gabapentin relieves vertigo of periodic vestibulocerebellar ataxia: 3 cases and possible mechanism. Mov Disord. 2021. https:\/\/doi.org\/10.1002\/mds.28491.","journal-title":"Mov Disord"},{"key":"1894_CR39","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1001\/archneur.64.4.558","volume":"64","author":"P Riba\u00ef","year":"2007","unstructured":"Riba\u00ef P, Pousset F, Tanguy ML, Rivaud-Pechoux S, Le Ber I, Gasparini F, Charles P, B\u00e9raud AS, Schmitt M, Koenig M, Mallet A, Brice A, D\u00fcrr A. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol. 2007;64:558\u201364. https:\/\/doi.org\/10.1001\/archneur.64.4.558.","journal-title":"Arch Neurol"},{"key":"1894_CR40","doi-asserted-by":"publisher","first-page":"1051","DOI":"10.1007\/s12311-012-0382-6","volume":"11","author":"L Vel\u00e1zquez-P\u00e9rez","year":"2012","unstructured":"Vel\u00e1zquez-P\u00e9rez L, Rodr\u00edguez-Labrada R, \u00c1lvarez-Gonz\u00e1lez L, Aguilera-Rodr\u00edguez R, \u00c1lvarez S\u00e1nchez M, Canales-Ochoa N, Galicia Polo L, Haro-Valencia R, Medrano-Montero J, V\u00e1zquez-Mojena Y, Pe\u00f1a-Acosta A, Estupi\u00f1\u00e1n-Rodr\u00edguez A, Rodr\u00edguez PN. Lisuride reduces involuntary periodic leg movements in spinocerebellar ataxia type 2 patients. Cerebellum (London, England). 2012;11:1051\u20136. https:\/\/doi.org\/10.1007\/s12311-012-0382-6.","journal-title":"Cerebellum (London, England)"},{"key":"1894_CR41","doi-asserted-by":"publisher","first-page":"1481","DOI":"10.1002\/mds.27437","volume":"33","author":"JC Rodr\u00edguez-D\u00edaz","year":"2018","unstructured":"Rodr\u00edguez-D\u00edaz JC, Vel\u00e1zquez-P\u00e9rez L, Rodr\u00edguez Labrada R, Aguilera Rodr\u00edguez R, Laffita P\u00e9rez D, Canales Ochoa N, Medrano Montero J, Estupi\u00f1\u00e1n Rodr\u00edguez A, Osorio Borjas M, G\u00f3ngora Marrero M, Reynaldo Cejas L, Gonz\u00e1lez Zaldivar Y, Almaguer Gotay D. Neurorehabilitation therapy in spinocerebellar ataxia type 2: a 24-week, rater-blinded, randomized, controlled trial. Mov Disord. 2018;33:1481\u20137. https:\/\/doi.org\/10.1002\/mds.27437.","journal-title":"Mov Disord"},{"key":"1894_CR42","doi-asserted-by":"publisher","first-page":"1368","DOI":"10.1212\/WNL.0000000000002041","volume":"85","author":"T Bremova","year":"2015","unstructured":"Bremova T, Malinova V, Amraoui Y, Mengel E, Reinke J, Kolnikova M, Strupp M. Acetyl-dl-leucine in Niemann-Pick type C: a case series. Neurology. 2015;85:1368\u201375. https:\/\/doi.org\/10.1212\/WNL.0000000000002041.","journal-title":"Neurology"},{"key":"1894_CR43","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000200239","volume":"14","author":"G Argenziano","year":"2024","unstructured":"Argenziano G, Cavallieri F, Castellucci A, Fioravanti V, Di Rauso G, Gessani A, Campanini I, Merlo A, Napoli M, Grisanti S, Rossi J, Toschi G, Zini C, Ghidini A, Valzania F. Vestibular hypofunction in ARSACS syndrome: a possible pitfall in the differential diagnosis of recessive cerebellar and afferent ataxias. Neurol Clin Pract. 2024;14: e200239. https:\/\/doi.org\/10.1212\/CPJ.0000000000200239.","journal-title":"Neurol Clin Pract"},{"key":"1894_CR44","doi-asserted-by":"publisher","first-page":"596","DOI":"10.3389\/fneur.2017.00596","volume":"8","author":"P Federighi","year":"2017","unstructured":"Federighi P, Ramat S, Rosini F, Pretegiani E, Federico A, Rufa A. Characteristic eye movements in ataxia-telangiectasia-like disorder: an explanatory hypothesis. Front Neurol. 2017;8:596. https:\/\/doi.org\/10.3389\/fneur.2017.00596.","journal-title":"Front Neurol"},{"key":"1894_CR45","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1002\/jimd.12533","volume":"45","author":"LH Koens","year":"2022","unstructured":"Koens LH, Tuitert I, Blokzijl H, Engelen M, Klouwer FCC, Lange F, Leen WG, Lunsing RJ, Koelman J, Verrips A, de Koning TJ, Tijssen MAJ. Eye movement disorders in inborn errors of metabolism: a quantitative analysis of 37 patients. J Inherit Metab Dis. 2022;45:981\u201395. https:\/\/doi.org\/10.1002\/jimd.12533.","journal-title":"J Inherit Metab Dis"},{"key":"1894_CR46","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1212\/01.wnl.0000276958.91986.89","volume":"69","author":"J H\u00fcbner","year":"2007","unstructured":"H\u00fcbner J, Sprenger A, Klein C, Hagenah J, Rambold H, Z\u00fchlke C, K\u00f6mpf D, Rolfs A, Kimmig H, Helmchen C. Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). Neurology. 2007;69:1160\u20138. https:\/\/doi.org\/10.1212\/01.wnl.0000276958.91986.89.","journal-title":"Neurology"},{"key":"1894_CR47","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1002\/ana.10758","volume":"54","author":"BE Swartz","year":"2003","unstructured":"Swartz BE, Li S, Bespalova I, Burmeister M, Dulaney E, Robinson FR, Leigh RJ. Pathogenesis of clinical signs in recessive ataxia with saccadic intrusions. Ann Neurol. 2003;54:824\u20138. https:\/\/doi.org\/10.1002\/ana.10758.","journal-title":"Ann Neurol"},{"key":"1894_CR48","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-024-01656-3","author":"DJ Szmulewicz","year":"2024","unstructured":"Szmulewicz DJ, Galli R, Tarnutzer AA. Patient-related outcome measures for oculomotor symptoms in the cerebellar ataxias: insights from non-cerebellar disorders. Cerebellum (London, England). 2024. https:\/\/doi.org\/10.1007\/s12311-024-01656-3.","journal-title":"Cerebellum (London, England)"},{"key":"1894_CR49","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1007\/s00415-023-12050-0","volume":"271","author":"M Borsche","year":"2024","unstructured":"Borsche M, Thomsen M, Szmulewicz DJ, Lubbers B, Hinrichs F, Lockhart PJ, Lohmann K, Helmchen C, Bruggemann N. Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B. J Neurol. 2024;271:1023\u20137. https:\/\/doi.org\/10.1007\/s00415-023-12050-0.","journal-title":"J Neurol"},{"key":"1894_CR50","doi-asserted-by":"publisher","first-page":"101","DOI":"10.29399\/npa.28563","volume":"61","author":"Z Karaaslan","year":"2024","unstructured":"Karaaslan Z, Hanagasi HA, Gurvit IH, Bilgic B. Video-oculography assessment in neurodegenerative ataxias and Niemann Pick type C. Noro Psikiyatr Ars. 2024;61:101\u20136. https:\/\/doi.org\/10.29399\/npa.28563.","journal-title":"Noro Psikiyatr Ars"},{"key":"1894_CR51","first-page":"686","volume":"43","author":"RF Lewis","year":"2002","unstructured":"Lewis RF, Crawford TO. Slow target-directed eye movements in ataxia-telangiectasia. Invest Ophthalmol Vis Sci. 2002;43:686\u201391.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1894_CR52","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1002\/1531-8249(199909)46:3<287::aid-ana3>3.0.co;2-0","volume":"46","author":"RF Lewis","year":"1999","unstructured":"Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol. 1999;46:287\u201395. https:\/\/doi.org\/10.1002\/1531-8249(199909)46:3%3c287::aid-ana3%3e3.0.co;2-0.","journal-title":"Ann Neurol"},{"key":"1894_CR53","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1212\/wnl.28.11.1099","volume":"28","author":"RW Baloh","year":"1978","unstructured":"Baloh RW, Yee RD, Boder E. Eye movements in ataxia-telangiectasia. Neurology. 1978;28:1099\u2013104. https:\/\/doi.org\/10.1212\/wnl.28.11.1099.","journal-title":"Neurology"},{"key":"1894_CR54","doi-asserted-by":"publisher","first-page":"14783","DOI":"10.1038\/s41598-023-41924-6","volume":"13","author":"JM Kim","year":"2023","unstructured":"Kim JM, Nam TS, Choi SM, Kim BC, Lee SH. Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias. Sci Rep. 2023;13:14783. https:\/\/doi.org\/10.1038\/s41598-023-41924-6.","journal-title":"Sci Rep"},{"key":"1894_CR55","doi-asserted-by":"publisher","first-page":"327","DOI":"10.3233\/VES-160579","volume":"26","author":"L Luis","year":"2016","unstructured":"Luis L, Costa J, Munoz E, de Carvalho M, Carmona S, Schneider E, Gordon CR, Valls-Sole J. Vestibulo-ocular reflex dynamics with head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 and Friedreich ataxia. J Vestib Res. 2016;26:327\u201334. https:\/\/doi.org\/10.3233\/VES-160579.","journal-title":"J Vestib Res"},{"key":"1894_CR56","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2021.117393","volume":"424","author":"D Geisinger","year":"2021","unstructured":"Geisinger D, Elyoseph Z, Zaltzman R, Mintz M, Gordon CR. Angular vestibulo ocular reflex loss with preserved saccular function in Machado-Joseph disease. J Neurol Sci. 2021;424: 117393. https:\/\/doi.org\/10.1016\/j.jns.2021.117393.","journal-title":"J Neurol Sci"},{"key":"1894_CR57","doi-asserted-by":"publisher","first-page":"351","DOI":"10.3233\/ves-140527","volume":"24","author":"CR Gordon","year":"2014","unstructured":"Gordon CR, Zivotofsky AZ, Caspi A. Impaired vestibulo-ocular reflex (VOR) in spinocerebellar ataxia type 3 (SCA3): bedside and search coil evaluation. Journal of vestibular research\u202f: equilibrium & orientation. 2014;24:351\u20135. https:\/\/doi.org\/10.3233\/ves-140527.","journal-title":"Journal of vestibular research : equilibrium & orientation"},{"key":"1894_CR58","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1007\/s12311-015-0650-3","volume":"14","author":"YE Huh","year":"2015","unstructured":"Huh YE, Kim JS, Kim HJ, Park SH, Jeon BS, Kim JM, Cho JW, Zee DS. Vestibular performance during high-acceleration stimuli correlates with clinical decline in SCA6. Cerebellum. 2015;14:284\u201391. https:\/\/doi.org\/10.1007\/s12311-015-0650-3.","journal-title":"Cerebellum"},{"key":"1894_CR59","doi-asserted-by":"publisher","DOI":"10.1177\/01945998211008398","author":"M Costales","year":"2021","unstructured":"Costales M, Casanueva R, Su\u00e1rez V, Asensi JM, Cifuentes GA, Di\u00f1eiro M, Cadi\u00f1anos J, L\u00f3pez F, \u00c1lvarez-Marcos C, Otero A, G\u00f3mez J, Llorente JL, Cabanillas R. Canvas: a new genetic entity in the otorhinolaryngologist\u2019s differential diagnosis. Otolaryngol Head Neck Surg. 2021. https:\/\/doi.org\/10.1177\/01945998211008398.","journal-title":"Otolaryngol Head Neck Surg"},{"key":"1894_CR60","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.2546","volume":"12","author":"M Borsche","year":"2022","unstructured":"Borsche M, Tadic V, Konig IR, Lohmann K, Helmchen C, Bruggemann N. Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS. Brain Behav. 2022;12: e32546. https:\/\/doi.org\/10.1002\/brb3.2546.","journal-title":"Brain Behav"},{"key":"1894_CR61","doi-asserted-by":"publisher","first-page":"2886","DOI":"10.1007\/s00415-024-12229-z","volume":"271","author":"D Pellerin","year":"2024","unstructured":"Pellerin D, Heindl F, Traschutz A, Rujescu D, Hartmann AM, Brais B, Houlden H, Dufke C, Riess O, Haack T, Strupp M, Synofzik M. RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile. J Neurol. 2024;271:2886\u201392. https:\/\/doi.org\/10.1007\/s00415-024-12229-z.","journal-title":"J Neurol"},{"key":"1894_CR62","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/j.joto.2023.06.004","volume":"18","author":"RG Harrell","year":"2023","unstructured":"Harrell RG, Cassidy AR, Klatt BN, Hovareshti P, Whitney SL. Vestibular rehabilitation in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)- a case report. J Otol. 2023;18:199\u2013207. https:\/\/doi.org\/10.1016\/j.joto.2023.06.004.","journal-title":"J Otol"},{"key":"1894_CR63","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1196\/annals.1325.041","volume":"1039","author":"D Solomon","year":"2005","unstructured":"Solomon D, Winkelman AC, Zee DS, Gray L, B\u00fcttner-Ennever J. Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann N Y Acad Sci. 2005;1039:436\u201345. https:\/\/doi.org\/10.1196\/annals.1325.041.","journal-title":"Ann N Y Acad Sci"},{"key":"1894_CR64","doi-asserted-by":"publisher","first-page":"3627","DOI":"10.1016\/S0042-6989(96)00066-1","volume":"37","author":"KG Rottach","year":"1997","unstructured":"Rottach KG, von Maydell RD, Das VE, Zivotofsky AZ, Discenna AO, Gordon JL, Landis DM, Leigh RJ. Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease. Vision Res. 1997;37:3627\u201338. https:\/\/doi.org\/10.1016\/S0042-6989(96)00066-1.","journal-title":"Vision Res"},{"key":"1894_CR65","doi-asserted-by":"publisher","first-page":"3040","DOI":"10.1111\/ene.14955","volume":"28","author":"T Bremova-Ertl","year":"2021","unstructured":"Bremova-Ertl T, Abel L, Walterfang M, Salsano E, Ardissone A, Malinova V, Kolnikova M, Gascon Bayarri J, Reza Tavasoli A, Reza Ashrafi M, Amraoui Y, Mengel E, Kolb SA, Brecht A, Bardins S, Strupp M. A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C. Eur J Neurol. 2021;28:3040\u201350. https:\/\/doi.org\/10.1111\/ene.14955.","journal-title":"Eur J Neurol"},{"key":"1894_CR66","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002660","volume":"86","author":"H Eggink","year":"2016","unstructured":"Eggink H, Brandsma R, van der Hoeven JH, Lange F, de Koning TJ, Tijssen MA. Teaching Video NeuroImages: The \u201cround the houses\u201d sign as a clinical clue for Niemann-Pick disease type C. Neurology. 2016;86: e202. https:\/\/doi.org\/10.1212\/WNL.0000000000002660.","journal-title":"Neurology"},{"key":"1894_CR67","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1136\/jnnp.2008.170522","volume":"80","author":"AG Shaikh","year":"2009","unstructured":"Shaikh AG, Marti S, Tarnutzer AA, Palla A, Crawford TO, Straumann D, Taylor AM, Zee DS. Gaze fixation deficits and their implication in ataxia-telangiectasia. J Neurol Neurosurg Psychiatry. 2009;80:858\u201364. https:\/\/doi.org\/10.1136\/jnnp.2008.170522.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1894_CR68","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1007\/s10633-024-09964-z","volume":"148","author":"SA Mironets","year":"2024","unstructured":"Mironets SA, Shurupova MA, Karelin AF. Videoocular assessment of eye movement activity in an ataxia-telangiectasia: a case study. Doc Ophthalmol. 2024;148:107\u201314. https:\/\/doi.org\/10.1007\/s10633-024-09964-z.","journal-title":"Doc Ophthalmol"},{"key":"1894_CR69","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2023.120849","volume":"454","author":"S Shirai","year":"2023","unstructured":"Shirai S, Mizushima K, Fujiwara K, Koshimizu E, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I. Case series: downbeat nystagmus in SCA27B. J Neurol Sci. 2023;454: 120849. https:\/\/doi.org\/10.1016\/j.jns.2023.120849.","journal-title":"J Neurol Sci"},{"key":"1894_CR70","doi-asserted-by":"publisher","first-page":"2687","DOI":"10.1007\/s00415-021-10856-4","volume":"269","author":"JH Choi","year":"2022","unstructured":"Choi JH, Oh EH, Choi SY, Kim HJ, Lee SK, Choi JY, Kim JS, Choi KD. Vestibular impairments in episodic ataxia type 2. J Neurol. 2022;269:2687\u201395. https:\/\/doi.org\/10.1007\/s00415-021-10856-4.","journal-title":"J Neurol"},{"key":"1894_CR71","doi-asserted-by":"publisher","first-page":"18641","DOI":"10.1038\/s41598-020-75661-x","volume":"10","author":"Z Chang","year":"2020","unstructured":"Chang Z, Chen Z, Stephen CD, Schmahmann JD, Wu HT, Sapiro G, Gupta AS. Accurate detection of cerebellar smooth pursuit eye movement abnormalities via mobile phone video and machine learning. Sci Rep. 2020;10:18641. https:\/\/doi.org\/10.1038\/s41598-020-75661-x.","journal-title":"Sci Rep"},{"issue":"Pt 8","key":"1894_CR72","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1093\/brain\/121.8.1497","volume":"121","author":"D Anastasopoulos","year":"1998","unstructured":"Anastasopoulos D, Haslwanter T, Fetter M, Dichgans J. Smooth pursuit eye movements and otolith-ocular responses are differently impaired in cerebellar ataxia. Brain. 1998;121(Pt 8):1497\u2013505. https:\/\/doi.org\/10.1093\/brain\/121.8.1497.","journal-title":"Brain"},{"key":"1894_CR73","doi-asserted-by":"publisher","first-page":"2295","DOI":"10.1093\/brain\/awn177","volume":"131","author":"LJ Bour","year":"2008","unstructured":"Bour LJ, van Rootselaar AF, Koelman JH, Tijssen MA. Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6. Brain\u202f: a journal of neurology. 2008;131:2295\u2013303. https:\/\/doi.org\/10.1093\/brain\/awn177.","journal-title":"Brain : a journal of neurology"},{"key":"1894_CR74","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1136\/jnnp.62.6.662","volume":"62","author":"K B\u00fcrk","year":"1997","unstructured":"B\u00fcrk K, Fetter M, Skalej M, Laccone F, Stevanin G, Dichgans J, Klockgether T. Saccade velocity in idiopathic and autosomal dominant cerebellar ataxia. J Neurol Neurosurg Psychiatry. 1997;62:662\u20134. https:\/\/doi.org\/10.1136\/jnnp.62.6.662.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1894_CR75","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/s002210000539","volume":"135","author":"KA Crowdy","year":"2000","unstructured":"Crowdy KA, Hollands MA, Ferguson IT, Marple-Horvat DE. Evidence for interactive locomotor and oculomotor deficits in cerebellar patients during visually guided stepping. Exp Brain Res. 2000;135:437\u201354. https:\/\/doi.org\/10.1007\/s002210000539.","journal-title":"Exp Brain Res"},{"key":"1894_CR76","doi-asserted-by":"publisher","first-page":"1271","DOI":"10.1002\/mds.25464","volume":"28","author":"JS Kim","year":"2013","unstructured":"Kim JS, Kim JS, Youn J, Seo DW, Jeong Y, Kang JH, Park JH, Cho JW. Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features. Mov Disord. 2013;28:1271\u20137. https:\/\/doi.org\/10.1002\/mds.25464.","journal-title":"Mov Disord"},{"key":"1894_CR77","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1086\/301613","volume":"61","author":"Q Yue","year":"1997","unstructured":"Yue Q, Jen JC, Nelson SF, Baloh RW. Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet. 1997;61:1078\u201387. https:\/\/doi.org\/10.1086\/301613.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"1894_CR78","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1093\/brain\/99.2.207","volume":"99","author":"DS Zee","year":"1976","unstructured":"Zee DS, Yee RD, Cogan DG, Robinson DA, Engel WK. Ocular motor abnormalities in hereditary cerebellar ataxia. Brain. 1976;99(2):207\u201334. https:\/\/doi.org\/10.1093\/brain\/99.2.207.","journal-title":"Brain"},{"key":"1894_CR79","doi-asserted-by":"publisher","first-page":"425","DOI":"10.3233\/VES-140538","volume":"24","author":"M Saglam","year":"2014","unstructured":"Saglam M, Lehnen N. Gaze stabilization in chronic vestibular-loss and in cerebellar ataxia: interactions of feedforward and sensory feedback mechanisms. Journal of vestibular research\u202f: equilibrium & orientation. 2014;24:425\u201331. https:\/\/doi.org\/10.3233\/VES-140538.","journal-title":"Journal of vestibular research : equilibrium & orientation"},{"key":"1894_CR80","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1007\/s12311-012-0433-z","volume":"12","author":"MF Alexandre","year":"2013","unstructured":"Alexandre MF, Rivaud-P\u00e9choux S, Challe G, Durr A, Gaymard B. Functional consequences of oculomotor disorders in hereditary cerebellar ataxias. Cerebellum. 2013;12:396\u2013405. https:\/\/doi.org\/10.1007\/s12311-012-0433-z.","journal-title":"Cerebellum"},{"key":"1894_CR81","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1093\/brain\/awm323","volume":"131","author":"MC Fahey","year":"2008","unstructured":"Fahey MC, Cremer PD, Aw ST, Millist L, Todd MJ, White OB, Halmagyi M, Corben LA, Collins V, Churchyard AJ, Tan K, Kowal L, Delatycki MB. Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia. Brain. 2008;131:1035\u201345. https:\/\/doi.org\/10.1093\/brain\/awm323.","journal-title":"Brain"},{"key":"1894_CR82","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/j.neuropsychologia.2009.09.009","volume":"48","author":"J Fielding","year":"2010","unstructured":"Fielding J, Corben L, Cremer P, Millist L, White O, Delatycki M. Disruption to higher order processes in Friedreich ataxia. Neuropsychologia. 2010;48:235\u201342. https:\/\/doi.org\/10.1016\/j.neuropsychologia.2009.09.009.","journal-title":"Neuropsychologia"},{"key":"1894_CR83","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.bandc.2014.03.018","volume":"87","author":"DR Hocking","year":"2014","unstructured":"Hocking DR, Corben LA, Fielding J, Cremer PD, Millist L, White OB, Delatycki MB. Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement. Brain Cogn. 2014;87:161\u20137. https:\/\/doi.org\/10.1016\/j.bandc.2014.03.018.","journal-title":"Brain Cogn"},{"key":"1894_CR84","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1001\/archneur.55.7.949","volume":"55","author":"K Wessel","year":"1998","unstructured":"Wessel K, Moschner C, Wandinger KP, K\u00f6mpf D, Heide W. Oculomotor testing in the differential diagnosis of degenerative ataxic disorders. Arch Neurol. 1998;55:949\u201356. https:\/\/doi.org\/10.1001\/archneur.55.7.949.","journal-title":"Arch Neurol"},{"issue":"Pt 1","key":"1894_CR85","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/brain\/117.1.15","volume":"117","author":"C Moschner","year":"1994","unstructured":"Moschner C, Perlman S, Baloh RW. Comparison of oculomotor findings in the progressive ataxia syndromes. Brain. 1994;117(Pt 1):15\u201325. https:\/\/doi.org\/10.1093\/brain\/117.1.15.","journal-title":"Brain"},{"key":"1894_CR86","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1007\/s12311-010-0178-5","volume":"9","author":"DR Hocking","year":"2010","unstructured":"Hocking DR, Fielding J, Corben LA, Cremer PD, Millist L, White OB, Delatycki MB. Ocular motor fixation deficits in Friedreich ataxia. Cerebellum. 2010;9:411\u20138. https:\/\/doi.org\/10.1007\/s12311-010-0178-5.","journal-title":"Cerebellum"},{"key":"1894_CR87","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1212\/wnl.25.2.160","volume":"25","author":"RW Baloh","year":"1975","unstructured":"Baloh RW, Konrad HR, Honrubia V. Vestibulo-ocular function in patients with cerebellar atrophy. Neurology. 1975;25:160\u20138. https:\/\/doi.org\/10.1212\/wnl.25.2.160.","journal-title":"Neurology"},{"key":"1894_CR88","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1097\/00006324-198512000-00005","volume":"62","author":"KJ Ciuffreda","year":"1985","unstructured":"Ciuffreda KJ, Kenyon RV, Stark L. Eye movements during reading: further case reports. Am J Optom Physiol Opt. 1985;62:844\u201352. https:\/\/doi.org\/10.1097\/00006324-198512000-00005.","journal-title":"Am J Optom Physiol Opt"},{"key":"1894_CR89","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1016\/s0002-9394(14)77738-4","volume":"85","author":"RT Dale","year":"1978","unstructured":"Dale RT, Kirby AW, Jampel RS. Square wave jerks in Friedreich\u2019s ataxia. Am J Ophthalmol. 1978;85:400\u20136. https:\/\/doi.org\/10.1016\/s0002-9394(14)77738-4.","journal-title":"Am J Ophthalmol"},{"issue":"1","key":"1894_CR90","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1136\/jnnp.47.1.26","volume":"47","author":"J Ell","year":"1984","unstructured":"Ell J, Prasher D, Rudge P. Neuro-otological abnormalities in Friedreich\u2019s ataxia. J Neurol Neurosurg Psychiatry. 1984;47(1):26\u201332. https:\/\/doi.org\/10.1136\/jnnp.47.1.26.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1894_CR91","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1001\/archneur.1983.04050060043006","volume":"40","author":"JM Furman","year":"1983","unstructured":"Furman JM, Perlman S, Baloh RW. Eye movements in Friedreich\u2019s ataxia. Arch Neurol. 1983;40:343\u20136. https:\/\/doi.org\/10.1001\/archneur.1983.04050060043006.","journal-title":"Arch Neurol"},{"key":"1894_CR92","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1007\/bf00867423","volume":"242","author":"S Spieker","year":"1995","unstructured":"Spieker S, Schulz JB, Petersen D, Fetter M, Klockgether T, Dichgans J. Fixation instability and oculomotor abnormalities in Friedreich\u2019s ataxia. J Neurol. 1995;242:517\u201321. https:\/\/doi.org\/10.1007\/bf00867423.","journal-title":"J Neurol"},{"issue":"Pt 5","key":"1894_CR93","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1093\/brain\/119.5.1497","volume":"119","author":"K B\u00fcrk","year":"1996","unstructured":"B\u00fcrk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, Didierjean O, Brice A, Klockgether T. Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain. 1996;119(Pt 5):1497\u2013505. https:\/\/doi.org\/10.1093\/brain\/119.5.1497.","journal-title":"Brain"},{"key":"1894_CR94","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1001\/archneur.55.10.1353","volume":"55","author":"N Buttner","year":"1998","unstructured":"Buttner N, Geschwind D, Jen JC, Perlman S, Pulst SM, Baloh RW. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol. 1998;55:1353\u20137. https:\/\/doi.org\/10.1001\/archneur.55.10.1353.","journal-title":"Arch Neurol"},{"key":"1894_CR95","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.jns.2005.06.006","volume":"238","author":"KA Kerber","year":"2005","unstructured":"Kerber KA, Jen JC, Perlman S, Baloh RW. Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations. J Neurol Sci. 2005;238:41\u20135. https:\/\/doi.org\/10.1016\/j.jns.2005.06.006.","journal-title":"J Neurol Sci"},{"key":"1894_CR96","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1093\/brain\/awr009","volume":"134","author":"P Federighi","year":"2011","unstructured":"Federighi P, Cevenini G, Dotti MT, Rosini F, Pretegiani E, Federico A, Rufa A. Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. Brain. 2011;134:879\u201391. https:\/\/doi.org\/10.1093\/brain\/awr009.","journal-title":"Brain"},{"key":"1894_CR97","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1016\/j.clinph.2008.12.040","volume":"120","author":"L Vel\u00e1zquez-P\u00e9rez","year":"2009","unstructured":"Vel\u00e1zquez-P\u00e9rez L, Seifried C, Abele M, Wirjatijasa F, Rodr\u00edguez-Labrada R, Santos-Falc\u00f3n N, S\u00e1nchez-Cruz G, Almaguer-Mederos L, Tejeda R, Canales-Ochoa N, Fetter M, Ziemann U, Klockgether T, Medrano-Montero J, Rodr\u00edguez-D\u00edaz J, Laffita-Mesa JM, Auburger G. Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2. Clin Neurophysiol. 2009;120:632\u20135. https:\/\/doi.org\/10.1016\/j.clinph.2008.12.040.","journal-title":"Clin Neurophysiol"},{"key":"1894_CR98","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1167\/iovs.12-10689","volume":"54","author":"A Caspi","year":"2013","unstructured":"Caspi A, Zivotofsky AZ, Gordon CR. Multiple saccadic abnormalities in spinocerebellar ataxia type 3 can be linked to a single deficiency in velocity feedback. Invest Ophthalmol Vis Sci. 2013;54:731\u20138. https:\/\/doi.org\/10.1167\/iovs.12-10689.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1894_CR99","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1007\/s12311-015-0718-0","volume":"15","author":"FF Ghasia","year":"2016","unstructured":"Ghasia FF, Wilmot G, Ahmed A, Shaikh AG. Strabismus and micro-opsoclonus in Machado-Joseph disease. Cerebellum. 2016;15:491\u20137. https:\/\/doi.org\/10.1007\/s12311-015-0718-0.","journal-title":"Cerebellum"},{"key":"1894_CR100","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1212\/wnl.0000000000004772","volume":"90","author":"J Lemos","year":"2018","unstructured":"Lemos J, Novo A, Duque C, Castelhano J, Eggenberger E, Janu\u00e1rio C. \u201cPinball\u201d intrusions in spinocerebellar ataxia type 3. Neurology. 2018;90:36\u20137. https:\/\/doi.org\/10.1212\/wnl.0000000000004772.","journal-title":"Neurology"},{"key":"1894_CR101","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1002\/mds.10511","volume":"18","author":"T Hashimoto","year":"2003","unstructured":"Hashimoto T, Sasaki O, Yoshida K, Takei Y, Ikeda S. Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6. Mov Disord. 2003;18:1201\u20134. https:\/\/doi.org\/10.1002\/mds.10511.","journal-title":"Mov Disord"},{"key":"1894_CR102","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1212\/wnl.54.4.860","volume":"54","author":"N Takeichi","year":"2000","unstructured":"Takeichi N, Fukushima K, Sasaki H, Yabe I, Tashiro K, Inuyama Y. Dissociation of smooth pursuit and vestibulo-ocular reflex cancellation in SCA-6. Neurology. 2000;54:860\u20136. https:\/\/doi.org\/10.1212\/wnl.54.4.860.","journal-title":"Neurology"},{"key":"1894_CR103","doi-asserted-by":"publisher","first-page":"2407","DOI":"10.1093\/brain\/124.12.2407","volume":"124","author":"G Wiest","year":"2001","unstructured":"Wiest G, Tian JR, Baloh RW, Crane BT, Demer JL. Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A. Brain. 2001;124:2407\u201316. https:\/\/doi.org\/10.1093\/brain\/124.12.2407.","journal-title":"Brain"},{"key":"1894_CR104","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1002\/ana.410420616","volume":"42","author":"CM Gomez","year":"1997","unstructured":"Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997;42:933\u201350. https:\/\/doi.org\/10.1002\/ana.410420616.","journal-title":"Ann Neurol"},{"key":"1894_CR105","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1002\/ana.1059","volume":"49","author":"AK Oh","year":"2001","unstructured":"Oh AK, Jacobson KM, Jen JC, Baloh RW. Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. Ann Neurol. 2001;49:801\u20134. https:\/\/doi.org\/10.1002\/ana.1059.","journal-title":"Ann Neurol"},{"key":"1894_CR106","doi-asserted-by":"publisher","first-page":"1945","DOI":"10.1001\/archneur.59.12.1945","volume":"59","author":"JH Anderson","year":"2002","unstructured":"Anderson JH, Christova PS, Xie TD, Schott KS, Ward K, Gomez CM. Spinocerebellar ataxia in monozygotic twins. Arch Neurol. 2002;59:1945\u201351. https:\/\/doi.org\/10.1001\/archneur.59.12.1945.","journal-title":"Arch Neurol"},{"key":"1894_CR107","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/S0079-6123(08)00674-2","volume":"171","author":"CR Gordon","year":"2008","unstructured":"Gordon CR, Caspi A, Levite R, Zivotofsky AZ. Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). Prog Brain Res. 2008;171:519\u201325. https:\/\/doi.org\/10.1016\/S0079-6123(08)00674-2.","journal-title":"Prog Brain Res"},{"key":"1894_CR108","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/ana.410410105","volume":"41","author":"RW Baloh","year":"1997","unstructured":"Baloh RW, Yue Q, Furman JM, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol. 1997;41:8\u201316. https:\/\/doi.org\/10.1002\/ana.410410105.","journal-title":"Ann Neurol"},{"key":"1894_CR109","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0050947","volume":"7","author":"LA Abel","year":"2012","unstructured":"Abel LA, Bowman EA, Velakoulis D, Fahey MC, Desmond P, Macfarlane MD, Looi JC, Adamson CL, Walterfang M. Saccadic eye movement characteristics in adult Niemann-Pick type C disease: relationships with disease severity and brain structural measures. PLoS One. 2012;7: e50947. https:\/\/doi.org\/10.1371\/journal.pone.0050947.","journal-title":"PLoS One"},{"key":"1894_CR110","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.ymgme.2012.11.009","volume":"108","author":"M Walterfang","year":"2013","unstructured":"Walterfang M, Abel LA, Desmond P, Fahey MC, Bowman EA, Velakoulis D. Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C. Mol Genet Metab. 2013;108:85\u20139. https:\/\/doi.org\/10.1016\/j.ymgme.2012.11.009.","journal-title":"Mol Genet Metab"},{"key":"1894_CR111","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.3174\/ajnr.A2490","volume":"32","author":"M Walterfang","year":"2011","unstructured":"Walterfang M, Fahey M, Abel L, Fietz M, Wood A, Bowman E, Reutens D, Velakoulis D. Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables. AJNR Am J Neuroradiol. 2011;32:1340\u20136. https:\/\/doi.org\/10.3174\/ajnr.A2490.","journal-title":"AJNR Am J Neuroradiol"},{"key":"1894_CR112","doi-asserted-by":"publisher","first-page":"2761","DOI":"10.1093\/brain\/awg283","volume":"126","author":"I Le Ber","year":"2003","unstructured":"Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Said G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Durr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain\u202f: a journal of neurology. 2003;126:2761\u201372. https:\/\/doi.org\/10.1093\/brain\/awg283.","journal-title":"Brain : a journal of neurology"},{"key":"1894_CR113","doi-asserted-by":"publisher","first-page":"3039","DOI":"10.1007\/s10072-021-05206-1","volume":"42","author":"A Bargagli","year":"2021","unstructured":"Bargagli A, Rosini F, Zanca D, Serchi V, Rufa A. Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings. Neurol Sci. 2021;42:3039\u201342. https:\/\/doi.org\/10.1007\/s10072-021-05206-1.","journal-title":"Neurol Sci"},{"key":"1894_CR114","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1093\/brain\/awh080","volume":"127","author":"I Le Ber","year":"2004","unstructured":"Le Ber I, Bouslam N, Rivaud-Pechoux S, Guimaraes J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Durr A. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain\u202f: a journal of neurology. 2004;127:759\u201367. https:\/\/doi.org\/10.1093\/brain\/awh080.","journal-title":"Brain : a journal of neurology"},{"key":"1894_CR115","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1007\/s12311-013-0463-1","volume":"12","author":"M Panouilleres","year":"2013","unstructured":"Panouilleres M, Frismand S, Sillan O, Urquizar C, Vighetto A, Pelisson D, Tilikete C. Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. Cerebellum. 2013;12:557\u201367. https:\/\/doi.org\/10.1007\/s12311-013-0463-1.","journal-title":"Cerebellum"},{"key":"1894_CR116","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.bandc.2006.08.002","volume":"63","author":"AG Lasker","year":"2007","unstructured":"Lasker AG, Mazzocco MM, Zee DS. Ocular motor indicators of executive dysfunction in fragile X and Turner syndromes. Brain Cogn. 2007;63:203\u201320. https:\/\/doi.org\/10.1016\/j.bandc.2006.08.002.","journal-title":"Brain Cogn"},{"key":"1894_CR117","doi-asserted-by":"publisher","first-page":"3607","DOI":"10.1113\/JP273670","volume":"595","author":"F Rosini","year":"2017","unstructured":"Rosini F, Pretegiani E, Mignarri A, Optican LM, Serchi V, De Stefano N, Battaglini M, Monti L, Dotti MT, Federico A, Rufa A. The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. J Physiol. 2017;595:3607\u201320. https:\/\/doi.org\/10.1113\/JP273670.","journal-title":"J Physiol"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-025-01894-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-025-01894-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-025-01894-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T08:32:31Z","timestamp":1758357151000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-025-01894-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,13]]},"references-count":117,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,10]]}},"alternative-id":["1894"],"URL":"https:\/\/doi.org\/10.1007\/s12311-025-01894-z","relation":{},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,13]]},"assertion":[{"value":"5 August 2025","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 August 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":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"PG is a full-time employee of F. Hoffmann\u2013la Roche Ltd.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"141"}}