{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T13:24:59Z","timestamp":1762521899195},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2016,3,16]],"date-time":"2016-03-16T00:00:00Z","timestamp":1458086400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2016,5]]},"DOI":"10.1007\/s00415-016-8051-1","type":"journal-article","created":{"date-parts":[[2016,3,18]],"date-time":"2016-03-18T15:55:34Z","timestamp":1458316534000},"page":"927-936","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Normalisation of brain spectroscopy findings in Niemann\u2013Pick disease type C patients treated with miglustat"],"prefix":"10.1007","volume":"263","author":[{"given":"Fr\u00e9d\u00e9ric","family":"Sedel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Chabrol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Audoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsa","family":"Kaphan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Tranchant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Burzykowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayman","family":"Tourbah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie T.","family":"Vanier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Galanaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,3,16]]},"reference":[{"key":"8051_CR1","unstructured":"Actelion (2014) Miglustat (Zavesca\u00ae) summary of product characteristics. EMA (EudraPharm) http:\/\/www.ema.europa.eu\/ema\/index.jsp?curl=pages\/medicines\/human\/medicines\/000435\/human_med_001171.jsp&murl=menus\/medicines\/medicines.jsp&mid=WC0b01ac058001d125 . Accessed 9 Nov 2015"},{"key":"8051_CR2","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1212\/01.wnl.0000333215.93440.36","volume":"71","author":"EE Benarroch","year":"2008","unstructured":"Benarroch EE (2008) Brain cholesterol metabolism and neurologic disease. Neurology 71:1368\u20131373","journal-title":"Neurology"},{"key":"8051_CR3","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1007\/s00415-015-7819-z","volume":"262","author":"EA Bowman","year":"2015","unstructured":"Bowman EA, Walterfang M, Abel L, Desmond P, Fahey M, Velakoulis D (2015) Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann\u2013Pick disease type C patients treated with miglustat. J Neurol 262:2106\u20132114","journal-title":"J Neurol"},{"key":"8051_CR4","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s10545-012-9479-9","volume":"36","author":"YH Chien","year":"2013","unstructured":"Chien YH, Peng SF, Yang CC, Lee NC, Tsai LK, Huang AC, Su SC, Tseng CC, Hwu WL (2013) Long-term efficacy of miglustat in paediatric patients with Niemann\u2013Pick disease type C. J Inherit Metab Dis 36:129\u2013137","journal-title":"J Inherit Metab Dis"},{"key":"8051_CR5","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/ajmg.a.33847","volume":"155A","author":"S Fecarotta","year":"2011","unstructured":"Fecarotta S, Amitrano M, Romano A, Della Casa R, Bruschini D, Astarita L, Parenti G, Andria G (2011) The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann\u2013Pick disease type C after therapy with miglustat. Am J Med Genet A 155A:540\u2013547","journal-title":"Am J Med Genet A"},{"key":"8051_CR6","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13023-015-0240-y","volume":"10","author":"S Fecarotta","year":"2015","unstructured":"Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D\u2019Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G (2015) Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann\u2013Pick disease type C. Orphanet J Rare Dis 10:22","journal-title":"Orphanet J Rare Dis"},{"key":"8051_CR7","doi-asserted-by":"crossref","first-page":"e302","DOI":"10.1038\/tp.2013.76","volume":"3","author":"MJ Fraidakis","year":"2013","unstructured":"Fraidakis MJ (2013) Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry 3:e302","journal-title":"Transl Psychiatry"},{"key":"8051_CR8","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ymgme.2008.10.002","volume":"96","author":"D Galanaud","year":"2009","unstructured":"Galanaud D, Tourbah A, Lehericy S, Leveque N, Heron B, Billette de Villemeur T, Guffon N, Feillet F, Baumann N, Vanier MT, Sedel F (2009) 24\u00a0month-treatment with miglustat of three patients with Niemann\u2013Pick disease type C: follow up using brain spectroscopy. Mol Genet Metab 96:55\u201358","journal-title":"Mol Genet Metab"},{"key":"8051_CR9","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1194\/jlr.P000331","volume":"51","author":"WS Garver","year":"2010","unstructured":"Garver WS, Jelinek D, Meaney FJ, Flynn J, Pettit KM, Shepherd G, Heidenreich RA, Vockley CM, Castro G, Francis GA (2010) The national Niemann\u2013Pick type C1 disease database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res 51:406\u2013415","journal-title":"J Lipid Res"},{"key":"8051_CR10","first-page":"2","volume":"86","author":"AL Gropman","year":"2005","unstructured":"Gropman AL (2005) Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy. Mol Genet Metab 86:2\u20139","journal-title":"Mol Genet Metab"},{"key":"8051_CR11","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1750-1172-7-36","volume":"7","author":"B Heron","year":"2012","unstructured":"Heron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT (2012) Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis 7:36","journal-title":"Orphanet J Rare Dis"},{"key":"8051_CR12","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1023\/A:1021259403196","volume":"25","author":"J Imrie","year":"2002","unstructured":"Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, Cooper A, Besley GT, Wraith JE (2002) Niemann\u2013Pick disease type C in adults. J Inherit Metab Dis 25:491\u2013500","journal-title":"J Inherit Metab Dis"},{"key":"8051_CR13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2006.05.054","volume":"249","author":"C Iturriaga","year":"2006","unstructured":"Iturriaga C, Pineda M, Fernandez-Valero EM, Vanier MT, Coll MJ (2006) Niemann\u2013Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci 249:1\u20136","journal-title":"J Neurol Sci"},{"key":"8051_CR14","doi-asserted-by":"crossref","first-page":"6388","DOI":"10.1073\/pnas.96.11.6388","volume":"96","author":"M Jeyakumar","year":"1999","unstructured":"Jeyakumar M, Butters TD, Cortina-Borja M, Hunnam V, Proia RL, Perry VH, Dwek RA, Platt FM (1999) Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc Natl Acad Sci 96:6388\u20136393","journal-title":"Proc Natl Acad Sci"},{"key":"8051_CR15","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.pediatrneurol.2010.08.004","volume":"44","author":"A Kumar","year":"2011","unstructured":"Kumar A, Chugani HT (2011) Niemann\u2013Pick disease type C: unique 2-deoxy-2[(1)(8)F] fluoro-d-glucose PET abnormality. Pediatr Neurol 44:57\u201360","journal-title":"Pediatr Neurol"},{"key":"8051_CR16","doi-asserted-by":"crossref","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, Mansson JE, Porter FD, Blennow K (2011) Gamma-secretase-dependent amyloid-beta is increased in Niemann\u2013Pick type C: a cross-sectional study. Neurology 76:366\u2013372","journal-title":"Neurology"},{"key":"8051_CR17","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/mds.21779","volume":"23","author":"AR Paciorkowski","year":"2008","unstructured":"Paciorkowski AR, Westwell M, Ounpuu S, Bell K, Kagan J, Mazzarella C, Greenstein RM (2008) Motion analysis of a child with Niemann\u2013Pick disease type C treated with miglustat. Mov Disord 23:124\u2013128","journal-title":"Mov Disord"},{"key":"8051_CR18","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ymgme.2012.03.012","volume":"106","author":"MC Patterson","year":"2012","unstructured":"Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, Group N-CGW (2012) Recommendations for the diagnosis and management of Niemann\u2013Pick disease type C: an update. Mol Genet Metab 106:330\u2013344","journal-title":"Mol Genet Metab"},{"key":"8051_CR19","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, Pineda M, Investigators NPCR (2015) Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann\u2013Pick disease type C: an observational cohort study. Orphanet J Rare Dis 10:65","journal-title":"Orphanet J Rare Dis"},{"key":"8051_CR20","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1177\/0883073809344222","volume":"25","author":"MC Patterson","year":"2010","unstructured":"Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE (2010) Long-term miglustat therapy in children with Niemann\u2013Pick disease type C. J Child Neurol 25:300\u2013305","journal-title":"J Child Neurol"},{"key":"8051_CR21","doi-asserted-by":"crossref","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 (2007) Miglustat for treatment of Niemann\u2013Pick C disease: a randomised controlled study. Lancet Neurol 6:765\u2013772","journal-title":"Lancet Neurol"},{"key":"8051_CR22","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ymgme.2009.11.007","volume":"99","author":"M Pineda","year":"2010","unstructured":"Pineda M, Perez-Poyato MS, O\u2019Callaghan M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Perez AV, Temudo T, Gaspar A, Penas JJ, Roldan S, Fumero LM, de la Barca OB, Silva MT, Macias-Vidal J, Coll MJ (2010) Clinical experience with miglustat therapy in pediatric patients with Niemann\u2013Pick disease type C: a case series. Mol Genet Metab 99:358\u2013366","journal-title":"Mol Genet Metab"},{"key":"8051_CR23","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.ymgme.2009.07.003","volume":"98","author":"M Pineda","year":"2009","unstructured":"Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC (2009) Miglustat in patients with Niemann\u2013Pick disease type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab 98:243\u2013249","journal-title":"Mol Genet Metab"},{"key":"8051_CR24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11064-013-1199-5","volume":"39","author":"CD Rae","year":"2014","unstructured":"Rae CD (2014) A guide to the metabolic pathways and function of metabolites observed in human brain 1H magnetic resonance spectra. Neurochem Res 39:1\u201336","journal-title":"Neurochem Res"},{"key":"8051_CR25","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.ymgme.2009.10.180","volume":"99","author":"M Scheel","year":"2010","unstructured":"Scheel M, Abegg M, Lanyon LJ, Mattman A, Barton JJ (2010) Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann\u2013Pick type C patient. Mol Genet Metab 99:291\u2013295","journal-title":"Mol Genet Metab"},{"key":"8051_CR26","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1093\/brain\/awl260","volume":"130","author":"M Sevin","year":"2007","unstructured":"Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F (2007) The adult form of Niemann\u2013Pick disease type C. Brain 130:120\u2013133","journal-title":"Brain"},{"key":"8051_CR27","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1097\/NEN.0b013e31825414a6","volume":"71","author":"VM Stein","year":"2012","unstructured":"Stein VM, Crooks A, Ding W, Prociuk M, O\u2019Donnell P, Bryan C, Sikora T, Dingemanse J, Vanier MT, Walkley SU, Vite CH (2012) Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann\u2013Pick disease type C. J Neuropathol Exp Neurol 71:434\u2013448","journal-title":"J Neuropathol Exp Neurol"},{"key":"8051_CR28","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1136\/jnnp.65.1.72","volume":"65","author":"G Tedeschi","year":"1998","unstructured":"Tedeschi G, Bonavita S, Barton NW, Betolino A, Frank JA, Patronas NJ, Alger JR, Schiffmann R (1998) Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann\u2013Pick type C disease. J Neurol Neurosurg Psychiatry 65:72\u201379","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"8051_CR29","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10545-014-9794-4","volume":"38","author":"MT Vanier","year":"2015","unstructured":"Vanier MT (2015) Complex lipid trafficking in Niemann\u2013Pick disease type C. J Inherit Metab Dis 38:187\u2013199","journal-title":"J Inherit Metab Dis"},{"key":"8051_CR30","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","volume":"5","author":"MT Vanier","year":"2010","unstructured":"Vanier MT (2010) Niemann\u2013Pick disease type C. Orphanet J Rare Dis 5:16","journal-title":"Orphanet J Rare Dis"},{"key":"8051_CR31","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1034\/j.1399-0004.2003.00147.x","volume":"64","author":"MT Vanier","year":"2003","unstructured":"Vanier MT, Millat G (2003) Niemann\u2013Pick disease type C. Clin Genet 64:269\u2013281","journal-title":"Clin Genet"},{"key":"8051_CR32","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1176\/jnp.2006.18.2.158","volume":"18","author":"M Walterfang","year":"2006","unstructured":"Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, Velakoulis D (2006) The neuropsychiatry of Niemann\u2013Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 18:158\u2013170","journal-title":"J Neuropsychiatry Clin Neurosci"},{"key":"8051_CR33","author":"CA Wassif","year":"2015","unstructured":"Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, Ory DS, Ponting CP, Bailey-Wilson JE, Biesecker LG, Porter FD (2015) High incidence of unrecognized visceral\/neurological late-onset Niemann\u2013Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med. doi: 10.1038\/gim.2015.25 (epub before print)","journal-title":"Genet Med"},{"key":"8051_CR34","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ymgme.2009.12.006","volume":"99","author":"JE Wraith","year":"2010","unstructured":"Wraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Patterson MC (2010) Miglustat in adult and juvenile patients with Niemann\u2013Pick disease type C: long-term data from a clinical trial. Mol Genet Metab 99:351\u2013357","journal-title":"Mol Genet Metab"},{"key":"8051_CR35","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.ejpn.2010.02.001","volume":"15","author":"M Zarowski","year":"2011","unstructured":"Zarowski M, Steinborn B, Gurda B, Dvorakova L, Vlaskova H, Kothare SV (2011) Treatment of cataplexy in Niemann\u2013Pick disease type C with the use of miglustat. Eur J Paediatr Neurol 15:84\u201387","journal-title":"Eur J Paediatr Neurol"},{"key":"8051_CR36","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/S0960-9822(01)00396-7","volume":"11","author":"M Zervas","year":"2001","unstructured":"Zervas M, Somers KL, Thrall MA, Walkley SU (2001) Critical role for glycosphingolipids in Niemann\u2013Pick disease type C. Curr Biol 11:1283\u20131287","journal-title":"Curr Biol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-016-8051-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-016-8051-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-016-8051-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,26]],"date-time":"2019-03-26T15:15:29Z","timestamp":1553613329000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-016-8051-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,16]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["8051"],"URL":"https:\/\/doi.org\/10.1007\/s00415-016-8051-1","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,16]]}}}