{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:44:55Z","timestamp":1761007495023,"version":"build-2065373602"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,10,31]],"date-time":"2007-10-31T00:00:00Z","timestamp":1193788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2008,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Niemann\u2013Pick disease type C (NPC) is a progressive neurodegenerative disorder for which there is no effective treatment other than supportive therapy. Recently, the oral medication miglustat has been offered as a possible therapy aimed at reducing pathological substrate accumulation. This article describes the use of computerized three\u2010dimensional motion analysis to evaluate a 3\u2010year\u2010old child with NPC treated with miglustat for 12 months. Motion analysis provided quantitative data on the patient's gait. However, dementia and motor dysfunction progressed despite the treatment, and the patient lost the ability to walk between 9 and 12 months of the study. Motion analysis should be considered among the tools for measuring functional outcomes in future therapeutical trials of patients with neurodegenerative diseases. It is not possible to draw conclusions about miglustat therapy in NPC from a single patient experience. \u00a9 2007 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21779","type":"journal-article","created":{"date-parts":[[2007,10,31]],"date-time":"2007-10-31T19:16:21Z","timestamp":1193858181000},"page":"124-128","source":"Crossref","is-referenced-by-count":14,"title":["Motion analysis of a child with Niemann\u2013Pick disease type C treated with miglustat"],"prefix":"10.1002","volume":"23","author":[{"given":"Alex R.","family":"Paciorkowski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melany","family":"Westwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia","family":"\u00d5unpuu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharine","family":"Bell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne","family":"Kagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy","family":"Mazzarella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert M.","family":"Greenstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,1,25]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"3611","volume-title":"The metabolic and molecular bases of inherited disease","author":"Patterson MC","year":"2001"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00147.x"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2006.05.054"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0384-7"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2004.05.002"},{"key":"e_1_2_7_7_2","unstructured":"PattersonMC VecchioD PradyH et al.Oral miglustat in adult and pediatric patients with Niemann\u2010Pick type C (NPC) disease: rationale methodology and interim analyses of a clinical study. Presented at the annual meeting of the American Society of Human Genetics 2005."},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02161-9"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00396-7"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0272-5"},{"key":"e_1_2_7_11_2","first-page":"17","volume-title":"Human motion analysis: current applications and future directions","author":"Davis R","year":"1996"},{"key":"e_1_2_7_12_2","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1093\/ptj\/71.12.961","article-title":"Strategies for the assessment of pediatric gait in the clinical setting","volume":"71","author":"Rose SA","year":"1991","journal-title":"Phys Ther"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-199105000-00012"},{"volume-title":"Battelle developmental inventory","year":"2005","author":"Newborg J","key":"e_1_2_7_14_2"},{"volume-title":"BDI\u20102 Scoring Pro \u2122 [Computer Software]","year":"2005","author":"Newborg J","key":"e_1_2_7_15_2"},{"volume-title":"Peabody developmental motor scales 2","year":"2000","author":"Folio MR","key":"e_1_2_7_16_2"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1325.041"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2007.01.011"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21779","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21779","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:36:49Z","timestamp":1760967409000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,1]]}},"alternative-id":["10.1002\/mds.21779"],"URL":"https:\/\/doi.org\/10.1002\/mds.21779","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2008,1]]}}}