{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T14:50:02Z","timestamp":1749221402609,"version":"3.40.5"},"reference-count":11,"publisher":"Cambridge University Press (CUP)","issue":"6","license":[{"start":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T00:00:00Z","timestamp":1631750400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:p>Niemann-Pick disease type C (NPC), is a rare lysosomal storage disorder, which has a variable presentation based on the age of onset. We describe five adult\/adolescent-onset NPC cases presenting with a range of movement disorders along with vertical supranuclear gaze palsy as part of the clinical presentation. A diagnostic delay of 4\u201317 years from the symptom onset was found in this case series. A high index of clinical suspicion in adult\/adolescent patients presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology can help in the early diagnosis of NPC.<\/jats:p>","DOI":"10.1017\/cjn.2021.222","type":"journal-article","created":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T08:22:25Z","timestamp":1631780545000},"page":"804-808","source":"Crossref","is-referenced-by-count":1,"title":["Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C"],"prefix":"10.1017","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5545-4304","authenticated-orcid":false,"given":"Jasmine","family":"Parihar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4285-144X","authenticated-orcid":false,"given":"Deepa","family":"Dash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhawana","family":"Aggarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madhulika","family":"Kabra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roopa","family":"Rajan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepti","family":"Vibha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh Kumar","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rohit","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjari","family":"Tripathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2021,9,16]]},"reference":[{"key":"S0317167121002225_ref5","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003011"},{"key":"S0317167121002225_ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7159-9"},{"key":"S0317167121002225_ref3","doi-asserted-by":"publisher","DOI":"10.1080\/15622975.2017.1379610"},{"key":"S0317167121002225_ref6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828869f9"},{"key":"S0317167121002225_ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-12"},{"key":"S0317167121002225_ref9","doi-asserted-by":"publisher","DOI":"10.1086\/320606"},{"key":"S0317167121002225_ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.05.019"},{"key":"S0317167121002225_ref2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00147.x"},{"key":"S0317167121002225_ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8051-1"},{"key":"S0317167121002225_ref8","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182563b82"},{"key":"S0317167121002225_ref4","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl260"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167121002225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T11:24:17Z","timestamp":1666956257000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167121002225\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,16]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["S0317167121002225"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2021.222","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"type":"print","value":"0317-1671"},{"type":"electronic","value":"2057-0155"}],"subject":[],"published":{"date-parts":[[2021,9,16]]}}}