{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T02:20:56Z","timestamp":1768098056096,"version":"3.49.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,8,17]],"date-time":"2018-08-17T00:00:00Z","timestamp":1534464000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s12883-018-1124-2","type":"journal-article","created":{"date-parts":[[2018,8,17]],"date-time":"2018-08-17T08:38:03Z","timestamp":1534495083000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report"],"prefix":"10.1186","volume":"18","author":[{"given":"Tomoya","family":"Kawazoe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Narita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kousaku","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaori","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nanba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuko","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masamitsu","family":"Maekawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshikatsu","family":"Eto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miho","family":"Murata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6881-5586","authenticated-orcid":false,"given":"Yuji","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,8,17]]},"reference":[{"key":"1124_CR1","doi-asserted-by":"publisher","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 Disord. 2010;5:16.","journal-title":"Orphanet J Rare Disord"},{"key":"1124_CR2","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.","journal-title":"Lancet Neurol"},{"key":"1124_CR3","doi-asserted-by":"publisher","first-page":"1758","DOI":"10.1016\/S0140-6736(17)31465-4","volume":"390","author":"DS Ory","year":"2017","unstructured":"Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, et al. Intrathecal 2-hydroxypropyl-\u03b2-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017;390:1758\u201368.","journal-title":"Lancet"},{"key":"1124_CR4","first-page":"1","volume":"1","author":"CJ Hendriksz","year":"2015","unstructured":"Hendriksz CJ, Pineda M, Fahey M, Walterfang M, Stampfer M, Runz H, et al. The Niemann-Pick disease type C suspicion index: development of a new tool to aid diagnosis. J Rare Disord. 2015;1:1\u20139.","journal-title":"J Rare Disord"},{"issue":"Suppl 2","key":"1124_CR5","doi-asserted-by":"publisher","first-page":"S559","DOI":"10.1007\/s00415-014-7396-6","volume":"261","author":"S Nia","year":"2014","unstructured":"Nia S. Psychiatric signs and symptoms in treatable inborn errors of metabolism. J Neurol. 2014;261(Suppl 2):S559\u201368.","journal-title":"J Neurol"},{"key":"1124_CR6","doi-asserted-by":"publisher","first-page":"1908","DOI":"10.1194\/jlr.M200203-JLR200","volume":"43","author":"P Tarugi","year":"2002","unstructured":"Tarugi P, Ballarini G, Bembi B, Battisti C, Palmeri S, Panzani F, et al. Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. J Lipid Res. 2002;43:1908\u201319.","journal-title":"J Lipid Res"},{"key":"1124_CR7","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1016\/j.steroids.2013.05.017","volume":"78","author":"M Maekawa","year":"2013","unstructured":"Maekawa M, Misawa Y, Sotoura A, Yamaguchi H, Togawa M, Ohno K, et al. LC\/ESI-MS\/MS analysis of urinary 3\u03b2-sulfooxy-7\u03b2-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease. Steroids. 2013;78:967\u201372.","journal-title":"Steroids"},{"key":"1124_CR8","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1086\/320599","volume":"68","author":"X Sun","year":"2001","unstructured":"Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, et al. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet. 2001;68:1361\u201372.","journal-title":"Am J Hum Genet"},{"key":"1124_CR9","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1093\/brain\/awl260","volume":"130","author":"M S\u00e9vin","year":"2007","unstructured":"S\u00e9vin 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;130:120\u201333.","journal-title":"Brain"},{"key":"1124_CR10","doi-asserted-by":"publisher","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;15:257.","journal-title":"BMC Neurol"},{"key":"1124_CR11","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1007\/s00415-014-7619-x","volume":"262","author":"A Benussi","year":"2015","unstructured":"Benussi A, Alberici A, Premi E, Bertasi V, Cotelli MS, Turla M, et al. Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins. J Neurol. 2015;262:642\u20137.","journal-title":"J Neurol"},{"key":"1124_CR12","doi-asserted-by":"publisher","first-page":"4349","DOI":"10.1093\/hmg\/ddt284","volume":"22","author":"P Bauer","year":"2013","unstructured":"Bauer P, Balding DJ, Kl\u00fcnemann HH, Linden DE, Ory DS, Pineda M, et al. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet. 2013;22:4349\u201356.","journal-title":"Hum Mol Genet"},{"key":"1124_CR13","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.encep.2015.11.003","volume":"42","author":"A Maubert","year":"2016","unstructured":"Maubert A, Hanon C, Sedel F. Psychiatric disorders in adult form of Niemann-Pick disease type C. Encephale. 2016;42:208\u201313. [Article in French]","journal-title":"Encephale"},{"key":"1124_CR14","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.ejpn.2013.08.002","volume":"18","author":"K Szakszon","year":"2014","unstructured":"Szakszon K, Szegedi I, Magyar A, Ol\u00e1h E, Andrejkovics M, Balla P, et al. Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient. Eur J Paediatr Neurol. 2014;18:75\u20138.","journal-title":"Eur J Paediatr Neurol"},{"key":"1124_CR15","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1007\/s10545-013-9626-y","volume":"37","author":"JE Wraith","year":"2014","unstructured":"Wraith JE, Sedel F, Pineda M, Wijburg FA, Hendriksz CJ, Fahey M, et al. Niemann-Pick type C suspicion index tool: analyses by age and association of manifestations. J Inherit Metab Dis. 2014;37:93\u2013101.","journal-title":"J Inherit Metab Dis"},{"key":"1124_CR16","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1212\/WNL.0b013e318208f4ab","volume":"76","author":"N Mattsson","year":"2011","unstructured":"Mattsson N, Zetterberg H, Bianconi S, Yanjanin NM, Fu R, M\u00e5nsson JE, et al. Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study. Neurology. 2011;76:366\u201372.","journal-title":"Neurology"},{"key":"1124_CR17","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1111\/ncn3.122","volume":"2","author":"Y Sakiyama","year":"2014","unstructured":"Sakiyama Y, Narita A, Osawa S, Nanba E, Ohno K, Otsuka M. Abnormal copper metabolism in Niemann\u2013Pick disease type C mimicking Wilson's disease. Neurol Clin Neurosci. 2014;2:193\u2013200.","journal-title":"Neurol Clin Neurosci"},{"key":"1124_CR18","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.ijdevneu.2017.11.007","volume":"66","author":"TG Hammerschmidt","year":"2017","unstructured":"Hammerschmidt TG, de Oliveira Schmitt Ribas G, Saraiva-Pereira ML, Bonatto MP, Kessler RG, FTS S, et al. Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients. Int J Dev Neurosci. 2017;66:18\u201323.","journal-title":"Int J Dev Neurosci"},{"key":"1124_CR19","doi-asserted-by":"publisher","first-page":"e0181700","DOI":"10.1371\/journal.pone.0181700","volume":"12","author":"M Pettazzoni","year":"2017","unstructured":"Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, et al. LC-MS\/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: a novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. PLoS One. 2017;12:e0181700.","journal-title":"PLoS One"},{"key":"1124_CR20","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1007\/s11910-014-0522-0","volume":"15","author":"S Nevsimalova","year":"2015","unstructured":"Nevsimalova S, Malinova V. Cataplexy and sleep disorders in Niemann-Pick type C disease. Curr Neurol Neurosci Rep. 2015;15:522.","journal-title":"Curr Neurol Neurosci Rep"},{"key":"1124_CR21","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1007\/8904_2013_240","volume":"12","author":"K Harzer","year":"2014","unstructured":"Harzer K, Beck-W\u00f6dl S, Bauer P. Niemann-Pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes. JIMD Rep. 2014;12:25\u20139.","journal-title":"JIMD Rep"},{"key":"1124_CR22","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1002\/humu.21438","volume":"32","author":"IF Fokkema","year":"2011","unstructured":"Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011;32:557\u201363.","journal-title":"Hum Mutat"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-018-1124-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12883-018-1124-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-018-1124-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,16]],"date-time":"2019-08-16T19:06:23Z","timestamp":1565982383000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-018-1124-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,17]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["1124"],"URL":"https:\/\/doi.org\/10.1186\/s12883-018-1124-2","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,17]]},"assertion":[{"value":"22 March 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 August 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 August 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of clinical details was obtained from the patients (Cases 2 and 3) or from the family (Case 1).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"117"}}