{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T11:51:44Z","timestamp":1789213904742,"version":"build-2803163510"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"Journ\u00e9e de Neurologie de langue fran\u00e7aise (JNLF)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s13023-017-0579-3","type":"journal-article","created":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T19:32:21Z","timestamp":1485977541000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment"],"prefix":"10.1186","volume":"12","author":[{"given":"Marion","family":"Masingue","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaac","family":"Adanyeguh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Nadjar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Sedel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Galanaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Mochel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,2,2]]},"reference":[{"key":"579_CR1","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1038\/nm.3232","volume":"19","author":"RA Nixon","year":"2013","unstructured":"Nixon RA. The role of autophagy in neurodegenerative disease. Nat Med. 2013;19:983\u201397.","journal-title":"Nat Med"},{"key":"579_CR2","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1212\/WNL.0000000000001214","volume":"84","author":"IM Adanyeguh","year":"2015","unstructured":"Adanyeguh IM, Rinaldi D, Henry PG, Caillet S, Valabregue R, Durr A, Mochel F. Triheptanoin improves brain energy metabolism in patients with Huntington disease. Neurology. 2015;84:490\u20135.","journal-title":"Neurology"},{"key":"579_CR3","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","volume":"5","author":"M Vanier","year":"2010","unstructured":"Vanier M. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.","journal-title":"Orphanet J Rare Dis"},{"key":"579_CR4","doi-asserted-by":"crossref","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 M, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130:120\u201333.","journal-title":"Brain"},{"key":"579_CR5","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1194\/jlr.D015735","volume":"52","author":"X Jiang","year":"2011","unstructured":"Jiang X, Sifhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, et al. A sensitive and specific LC-MS\/MS method for rapid diagnosis of Nieman-Pick C1 disease from human plasma. J Lipid Res. 2011;52:1435\u201345.","journal-title":"J Lipid Res"},{"key":"579_CR6","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. Miglustat for treament of Nieman-Pick C disease : a randomised controlled study. Lancet Neurol. 2007;6:765\u201372.","journal-title":"Lancet Neurol"},{"key":"579_CR7","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, et al. Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. Orphanet J rare Dis. 2015;10:22.","journal-title":"Orphanet J rare Dis"},{"key":"579_CR8","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1007\/s00415-015-7819-z","volume":"262","author":"E Bowman","year":"2015","unstructured":"Bowman E, Walterfang M, Abel L, Desmond P, Fahey M, Velakoulis D. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. J Neurol. 2015;262:2106\u201314.","journal-title":"J Neurol"},{"key":"579_CR9","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1212\/WNL.0b013e3181e6210e","volume":"75","author":"M Walterfang","year":"2010","unstructured":"Walterfang M, Fahey M, Desmond P, Wood A, Seal MI, Steward C, et al. White and gray matter alterations in adults with Niemann-Pick disease type C. Neurology. 2010;75:49\u201355.","journal-title":"Neurology"},{"key":"579_CR10","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1750-1172-7-36","volume":"7","author":"B H\u00e9ron","year":"2012","unstructured":"H\u00e9ron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, et al. Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis. 2012;7:36.","journal-title":"Orphanet J Rare Dis"},{"key":"579_CR11","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/j.pediatrneurol.2014.07.028","volume":"51","author":"R Lee","year":"2014","unstructured":"Lee R, Apkarian Kn Sol Jung E, Yanjamin N, Yoshida S, Mori S, et al. Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. Pediatr Neurol. 2014;51:669\u201374.","journal-title":"Pediatr Neurol"},{"key":"579_CR12","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 L, Mattman A, Barton J. Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient. Mol Genet Metab. 2010;99:291.","journal-title":"Mol Genet Metab"},{"key":"579_CR13","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1007\/s00415-016-8051-1","volume":"263","author":"F Sedel","year":"2016","unstructured":"Sedel F, Chabrol B, Audoin B, Kaphan E, Tranchant C, Burzykowski T, et al. Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. J Neurol. 2016;263:927\u201336.","journal-title":"J Neurol"},{"key":"579_CR14","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.ymgme.2005.07.007","volume":"86","author":"G Millat","year":"2005","unstructured":"Millat G, Ba\u00eflo N, Molinero S, Rodriguez C, Chikh K, Vanier MT. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Mol Genet Metab. 2005;86:220\u20133.","journal-title":"Mol Genet Metab"},{"key":"579_CR15","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, et al. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C : a case series. Mol Genet Metab. 2010;99:358\u201366.","journal-title":"Mol Genet Metab"},{"key":"579_CR16","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 NCGW. Recommendations for the diagnosis and management of Niemann-Pick disease type C : an update. Mol Genet Metab. 2012;106:330\u201344.","journal-title":"Mol Genet Metab"},{"key":"579_CR17","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1148\/radiol.13122720","volume":"270","author":"AW Eerden Van der","year":"2014","unstructured":"Van der Eerden AW, Khalilzadeh O, Perbarg V, Dinkel J, Sanchez P, Vos PE, et al. White matter changes in comatose survivors of anoxic ischemic encephalopathy and traumatic brain injury : comparative diffusion-tensor imaging study. Radiology. 2014;270:506\u201316.","journal-title":"Radiology"},{"key":"579_CR18","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.pscychresns.2006.01.007","volume":"246","author":"M Basso","year":"2006","unstructured":"Basso M, Yang J, Warren L, MacAvoy MG, Varma P, Bronen RA, et al. Volumetry of amygdala and hippocampus and memory performance in Alzheimer\u2019s disease. Psychiatry Res. 2006;246:251\u201361.","journal-title":"Psychiatry Res"},{"key":"579_CR19","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.pediatrneurol.2005.05.004","volume":"33","author":"TP Trouard","year":"2005","unstructured":"Trouard TP, Heidenreich RA, Seeger JF, Erickson RP. Diffusion tensor imaging in Niemann-Pick Type C disease. Pediatr Neurol. 2005;33:325\u201330.","journal-title":"Pediatr Neurol"},{"key":"579_CR20","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.3174\/ajnr.A4719","volume":"37","author":"J Davies-Thompson","year":"2016","unstructured":"Davies-Thompson J, Vasavur I, Scheel M, Rauscher A, Barton JJS. Reduced Myelin Water in the White Matter Tracts of patients with Niemann-Pick Type C. Am J Neuroradiol. 2016;37:1487\u20139.","journal-title":"Am J Neuroradiol"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-017-0579-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,25]],"date-time":"2017-06-25T05:33:34Z","timestamp":1498368814000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-017-0579-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,2]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["579"],"URL":"https:\/\/doi.org\/10.1186\/s13023-017-0579-3","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.727262438.793542535","asserted-by":"object"}]},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,2]]},"article-number":"22"}}