{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T09:57:45Z","timestamp":1787738265850,"version":"build-2784847793"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"DOI":"10.13039\/501100003142","name":"Fonds NutsOhra","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003142","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009575","name":"Jacques und Gloria Gossweiler-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009575","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003143","name":"Fonds Psychische Gezondheid","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003143","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Stichting wetenschapsfonds dystonievereniging"},{"name":"Phelps stichting"},{"DOI":"10.13039\/501100005342","name":"Stichting Vrienden Beatrix Kinderziekenhuis","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005342","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005646","name":"Actelion Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005646","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Merz"},{"DOI":"10.13039\/501100014382","name":"Ipsen","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100014382","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100004374","name":"Medtronic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004374","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Allergan Farmaceutics"},{"name":"Metakids"},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Stofwisselkracht"},{"name":"COST dystonia"},{"DOI":"10.13039\/100005646","name":"Actelion Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005646","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Merck-Serono"},{"DOI":"10.13039\/501100001720","name":"Nutricia Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001720","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012112","name":"Sobi","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100012112","id-type":"DOI","asserted-by":"crossref"}]},{"name":"ESPKU"},{"DOI":"10.13039\/100006396","name":"Alexion Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006396","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005646","name":"Actelion Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005646","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ARLA"},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010887","name":"Vitaflo","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100010887","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1186\/s13023-016-0502-3","type":"journal-article","created":{"date-parts":[[2016,9,2]],"date-time":"2016-09-02T15:56:28Z","timestamp":1472831788000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C"],"prefix":"10.1186","volume":"11","author":[{"given":"L. H.","family":"Koens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Kuiper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Coenen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. W. J.","family":"Elting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. J.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Engelen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. H. T. M.","family":"Koelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. J.","family":"van Spronsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. M.","family":"Spikman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. J.","family":"de Koning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A. J.","family":"Tijssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,9,1]]},"reference":[{"key":"502_CR1","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","volume":"5","author":"MT Vanier","year":"2010","unstructured":"Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16. 1172-5-16.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"502_CR2","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1186\/s12883-015-0511-1","volume":"15","author":"J Imrie","year":"2015","unstructured":"Imrie J, Heptinstall L, Knight S, Strong K. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurol. 2015;15(1):257. 015-0511-1.","journal-title":"BMC Neurol"},{"key":"502_CR3","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1172-8-12","volume":"8","author":"MC Patterson","year":"2013","unstructured":"Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12. 1172-8-12.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"502_CR4","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/s00415-013-7159-9","volume":"261","author":"M Anheim","year":"2014","unstructured":"Anheim M, Lagha-Boukbiza O, Fleury-Lesaunier MC, Valenti-Hirsch MP, Hirsch E, Gervais-Bernard H, et al. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. J Neurol. 2014;261(1):174\u20139.","journal-title":"J Neurol"},{"issue":"Pt 1","key":"502_CR5","first-page":"120","volume":"130","author":"M Sevin","year":"2007","unstructured":"Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130(Pt 1):120\u201333.","journal-title":"Brain"},{"key":"502_CR6","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1186\/1750-1172-8-166","volume":"8","author":"E Mengel","year":"2013","unstructured":"Mengel E, Klunemann HH, Lourenco CM, Hendriksz CJ, Sedel F, Walterfang M, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013;8:166. 1172-8-166.","journal-title":"Orphanet J Rare Dis"},{"key":"502_CR7","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13023-015-0284-z","volume":"10","author":"MC Patterson","year":"2015","unstructured":"Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet J Rare Dis. 2015;10:65. 015-0284-z.","journal-title":"Orphanet J Rare Dis"},{"issue":"20","key":"502_CR8","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1212\/WNL.0b013e3182563b82","volume":"78","author":"FA Wijburg","year":"2012","unstructured":"Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology. 2012;78(20):1560\u20137.","journal-title":"Neurology"},{"issue":"9","key":"502_CR9","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1002\/mds.20984","volume":"21","author":"L Canafoglia","year":"2006","unstructured":"Canafoglia L, Bugiani M, Uziel G, Dalla Bernardina B, Ciano C, Scaioli V, et al. Rhythmic cortical myoclonus in Niemann-Pick disease type C. Mov Disord. 2006;21(9):1453\u20136.","journal-title":"Mov Disord"},{"key":"502_CR10","doi-asserted-by":"crossref","unstructured":"Van Egmond ME, Elting JW, Kuiper A, Zutt R, Heineman KR, Brouwer OF, et al. Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment. Eur J Paediatr Neurol. 2015;19(6):726\u20139.","DOI":"10.1016\/j.ejpn.2015.07.003"},{"key":"502_CR11","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/1750-1172-8-35","volume":"8","author":"M Stampfer","year":"2013","unstructured":"Stampfer M, Theiss S, Amraoui Y, Jiang X, Keller S, Ory DS, et al. Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis. 2013;8:35. 1172-8-35.","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"502_CR12","doi-asserted-by":"crossref","first-page":"162","DOI":"10.3109\/13651501.2012.687451","volume":"16","author":"HH Klunemann","year":"2012","unstructured":"Klunemann HH, Santosh PJ, Sedel F. Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us. Int J Psychiatry Clin Pract. 2012;16(3):162\u20139.","journal-title":"Int J Psychiatry Clin Pract"},{"issue":"1","key":"502_CR13","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1007\/s10545-006-0417-6","volume":"30","author":"B Klarner","year":"2007","unstructured":"Klarner B, Klunemann HH, Lurding R, Aslanidis C, Rupprecht R. Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. J Inherit Metab Dis. 2007;30(1):60\u20137.","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"502_CR14","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1002\/mds.25849","volume":"29","author":"M Walterfang","year":"2014","unstructured":"Walterfang M, van de Warrenburg BP. Cognitive impairment in \u201cOther\u201d movement disorders: hidden defects and valuable clues. Mov Disord. 2014;29(5):694\u2013703.","journal-title":"Mov Disord"},{"key":"502_CR15","unstructured":"Busner J, Targum SD. The Clinical Global Impressions Scale: Applying a Research Tool in Clinical Practice. Psychiatry (Edgmont). 2007;4(7):28\u201337."},{"key":"502_CR16","unstructured":"Young A, Perrett D, Calder A, Sprengelmeyer R, Ekman P. Facial Expression of Emotion: Stimuli and Tests (FEEST). Bury St. Edmunds, England: Thames Valley Test Company; 2002."},{"key":"502_CR17","doi-asserted-by":"crossref","unstructured":"Wechsler D. Wechsler Adult Intelligence Scale IV (WAIS-IV). Amsterdam: Pearson; 2008.","DOI":"10.1037\/t15169-000"},{"key":"502_CR18","unstructured":"Schlichting L. Peabody Picture Vocabulary Test-Third Edition NL (PPVT-III-NL). Amsterdam: Pearson; 1997."},{"key":"502_CR19","unstructured":"Schmand B, Lindeboom J, van Harskamp F. Nederlandse Leestest voor Volwassenen (NLV) [Dutch version of the National Adult Reading Test].\u00a0Lisse: Swets & Zeitlinger; 1992."},{"key":"502_CR20","doi-asserted-by":"crossref","unstructured":"Wechsler D. Wechsler Adult Intelligence Scale III (WAIS-III) [Intelligence test for adults]. Lisse: Swets & Zeitlinger; 1997.","DOI":"10.1037\/t49755-000"},{"key":"502_CR21","volume-title":"Functiestoornissen na trauma capitis. Neuropsychologie in Nederland","author":"B Deelman","year":"1980","unstructured":"Deelman B, Brouwer W, van Zomeren A, Saan R. In: Jennekens-Schinkel A, Diamant J, et al., editors. Functiestoornissen na trauma capitis. Neuropsychologie in Nederland. Deventer: Van Loghum Slaterus; 1980."},{"key":"502_CR22","volume-title":"The Halstead-Reitan Neuropsychological Test Battery: Theory and clinical interpretation","author":"R Reitan","year":"1985","unstructured":"Reitan R, Wolfson D. The Halstead-Reitan Neuropsychological Test Battery: Theory and clinical interpretation. Tucson: Neuropsychology Press; 1985."},{"issue":"3","key":"502_CR23","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1002\/art.20048","volume":"50","author":"E Krishnan","year":"2004","unstructured":"Krishnan E, Sokka T, Hakkinen A, Hubert H, Hannonen P. Normative values for the Health Assessment Questionnaire disability index: benchmarking disability in the general population. Arthritis Rheum. 2004;50(3):953\u201360.","journal-title":"Arthritis Rheum"},{"key":"502_CR24","unstructured":"Zee KI van der, Sanderman R. Het meten van de algemene gezondheidstoestand met de RAND-36, een handleiding. Groningen: Rijksuniversiteit Groningen, Noordelijk Centrum voor Gezondheidsvraagstukken; 2012."},{"issue":"10","key":"502_CR25","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1016\/S1474-4422(10)70193-9","volume":"9","author":"JM Dijk","year":"2010","unstructured":"Dijk JM, Tijssen MA. Management of patients with myoclonus: available therapies and the need for an evidence-based approach. Lancet Neurol. 2010;9(10):1028\u201336.","journal-title":"Lancet Neurol"},{"issue":"5","key":"502_CR26","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s11940-016-0404-7","volume":"18","author":"A Levy","year":"2016","unstructured":"Levy A, Chen R. Myoclonus: Pathophysiology and Treatment Options. Curr Treat Options Neurol. 2016;18(5):21. 016-0404-7.","journal-title":"Curr Treat Options Neurol"},{"issue":"4","key":"502_CR27","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/mds.25867","volume":"29","author":"C Ganos","year":"2014","unstructured":"Ganos C, Kassavetis P, Erro R, Edwards MJ, Rothwell J, Bhatia KP. The role of the cerebellum in the pathogenesis of cortical myoclonus. Mov Disord. 2014;29(4):437\u201343.","journal-title":"Mov Disord"},{"issue":"6","key":"502_CR28","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1212\/WNL.54.6.1350","volume":"54","author":"MA Tijssen","year":"2000","unstructured":"Tijssen MA, Thom M, Ellison DW, Wilkins P, Barnes D, Thompson PD, et al. Cortical myoclonus and cerebellar pathology. Neurology. 2000;54(6):1350\u20136.","journal-title":"Neurology"},{"issue":"Pt 5","key":"502_CR29","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1093\/brain\/118.5.1087","volume":"118","author":"KP Bhatia","year":"1995","unstructured":"Bhatia KP, Brown P, Gregory R, Lennox GG, Manji H, Thompson PD, et al. Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum. Brain. 1995;118(Pt 5):1087\u201393.","journal-title":"Brain"},{"issue":"1","key":"502_CR30","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1111\/j.1440-1681.2009.05235.x","volume":"37","author":"Y Tang","year":"2010","unstructured":"Tang Y, Li H, Liu JP. Niemann-Pick Disease Type C: from molecule to clinic. Clin Exp Pharmacol Physiol. 2010;37(1):132\u201340.","journal-title":"Clin Exp Pharmacol Physiol"},{"issue":"5","key":"502_CR31","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1242\/dmm.012385","volume":"6","author":"ME Lopez","year":"2013","unstructured":"Lopez ME, Scott MP. Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C. Dis Model Mech. 2013;6(5):1089\u2013100.","journal-title":"Dis Model Mech"},{"key":"502_CR32","doi-asserted-by":"crossref","unstructured":"Van Egmond ME, Verschuuren-Bemelmans CC, Nibbeling EA, Elting JW, Sival DA, Brouwer OF, et al. Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. Mov Disord. 2014;29(1):139\u201343.","DOI":"10.1002\/mds.25704"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-016-0502-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,17]],"date-time":"2020-05-17T04:28:38Z","timestamp":1589689718000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-016-0502-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,1]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["502"],"URL":"https:\/\/doi.org\/10.1186\/s13023-016-0502-3","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,1]]},"article-number":"121"}}