{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T11:18:20Z","timestamp":1777288700813,"version":"3.51.4"},"reference-count":34,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T00:00:00Z","timestamp":1626048000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To characterize ocular motor function in patients with Niemann\u2010Pick disease type C (NPC).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In a multicontinental, cross\u2010sectional study we characterized ocular\u2010motor function in 72 patients from 12 countries by video\u2010oculography. Interlinking with disease severity, we also searched for ocular motor biomarkers. Our study protocol comprised reflexive and self\u2010paced saccades, smooth pursuit, and gaze\u2010holding in horizontal and vertical planes. Data were compared with those of 158 healthy controls (HC).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Some 98.2% of patients generated vertical saccades below the 95% CI of the controls\u2019 peak velocity. Only 46.9% of patients had smooth pursuit gain lower than that of 95% CI of HC. The involvement in both downward and upward directions was similar (51\u00b0\/s (68.9, [32.7\u201369.3]) downward versus 78.8\u00b0\/s (65.9, [60.8\u201396.8]) upward). Horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit correlated best to disease severity. Compensating strategies such as blinks to elicit saccades, and head and upper body movements to overcome the gaze palsy, were observed. Vertical reflexive saccades were more impaired and slower than self\u2010paced ones. Gaze\u2010holding was normal. Ocular\u2010motor performance depended on the age of onset and disease duration.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This is the largest cohort of NPC patients investigated for ocular\u2010motor function. Vertical supranuclear\u00a0saccade palsy is the hallmark of NPC. Vertical upward and downward saccades are equally impaired. Horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit can be used as surrogate parameters for clinical trials. Compensating strategies can contribute to establishing a diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.14955","type":"journal-article","created":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T05:20:41Z","timestamp":1623043241000},"page":"3040-3050","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A cross\u2010sectional, prospective ocular motor study in 72 patients with Niemann\u2010Pick disease type C"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7397-045X","authenticated-orcid":false,"given":"Tatiana","family":"Bremova\u2010Ertl","sequence":"first","affiliation":[{"name":"Department of Neurology University Hospital Bern (Inselspital) and University of Bern Bern Switzerland"},{"name":"Center for Rare Diseases University Hospital Bern (Inselspital) and University of Bern Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2393-0644","authenticated-orcid":false,"given":"Larry","family":"Abel","sequence":"additional","affiliation":[{"name":"Optometry &amp; Vision Science School of Medicine Deakin University Waurn Ponds Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1389-3691","authenticated-orcid":false,"given":"Mark","family":"Walterfang","sequence":"additional","affiliation":[{"name":"Neuropsychiatry Unit Royal Melbourne Hospital Parkville Victoria Australia"},{"name":"Melbourne Neuropsychiatry Centre University of Melbourne &amp; NorthWestern Mental Health Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9167-1878","authenticated-orcid":false,"given":"Ettore","family":"Salsano","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurodegenerative and Neurometabolic Diseases Fondazione IRCCS Istituto Neurologico \u201cCarlo Besta\u201d Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1969-0147","authenticated-orcid":false,"given":"Anna","family":"Ardissone","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurodegenerative and Neurometabolic Diseases Fondazione IRCCS Istituto Neurologico \u201cCarlo Besta\u201d Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u011bra","family":"Malinov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescence Medicine First Faculty of Medicine General University Hospital Prague Charles University Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Koln\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Comenius University Children's Hospital Bratislava Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Gasc\u00f3n Bayarri","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Universitari de Bellvitge L'Hospitalet de Llobregat Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Reza Tavasoli","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Division Children\u2019s Medical Center Pediatric Center of Excellence Myelin Disorders Clinic Tehran University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud","family":"Reza Ashrafi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Division Children\u2019s Medical Center Pediatric Center of Excellence Myelin Disorders Clinic Tehran University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasmina","family":"Amraoui","sequence":"additional","affiliation":[{"name":"SphinCS Gmbh, Clinical Science for LSD Hochheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugen","family":"Mengel","sequence":"additional","affiliation":[{"name":"SphinCS Gmbh, Clinical Science for LSD Hochheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan A.","family":"Kolb","sequence":"additional","affiliation":[{"name":"Actelion, a Janssen company of Johnson &amp; Johnsons Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Brecht","sequence":"additional","affiliation":[{"name":"Actelion, a Janssen company of Johnson &amp; Johnsons Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislavs","family":"Bardins","sequence":"additional","affiliation":[{"name":"German Center for Vertigo and Balance Disorders and Department of Neurology University Hospital Munich, Campus Grosshadern Ludwig\u2010Maximilians\u2010University Munich Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Strupp","sequence":"additional","affiliation":[{"name":"German Center for Vertigo and Balance Disorders and Department of Neurology University Hospital Munich, Campus Grosshadern Ludwig\u2010Maximilians\u2010University Munich Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9794-4"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000399"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000345040.01917.9d"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0050947"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0042-6989(96)00066-1"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1325.041"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-012-1155-1"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9861(19980323)392:4<413::AID-CNE1>3.0.CO;2-3"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200202000-00007"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6123(08)00601-8"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70194-1"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0377-8"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8247-4"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-09796-2"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002041"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2006.05.054"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000219042.60538.92"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324863.76290.19"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1532-5415.2005.53221.x"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100013792"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.01.005"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-12"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002660"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2017.00711"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7385-9"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.11.2070"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2011.06170.x"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000144275.76658.F4"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1152\/jn.1981.45.3.417"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.neuropsych.15100243"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1089\/neu.2017.5274"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.2217\/cnc-2019-0001"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e6210e"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009290"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14955","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.14955","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14955","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T17:57:39Z","timestamp":1692986259000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.14955"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,12]]},"references-count":34,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1111\/ene.14955"],"URL":"https:\/\/doi.org\/10.1111\/ene.14955","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.08.05.20158915","asserted-by":"object"}]},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,12]]},"assertion":[{"value":"2021-03-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}