{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T01:39:34Z","timestamp":1792373974525,"version":"4.4.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:00:00Z","timestamp":1792368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:00:00Z","timestamp":1792368000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["No. 82271272"],"award-info":[{"award-number":["No. 82271272"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2026,11]]},"DOI":"10.1007\/s10072-026-09490-7","type":"journal-article","created":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:48:57Z","timestamp":1792370937000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Delayed diagnosis of cerebrotendinous xanthomatosis with progressive neurological involvement: a case report"],"prefix":"10.1007","volume":"47","author":[{"given":"Wenting","family":"Zhou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyun","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sihui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youjia","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huifang","family":"Shang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Xueping","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9971-6185","authenticated-orcid":false,"given":"Ruwei","family":"Ou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,19]]},"reference":[{"key":"9490_CR1","unstructured":"Federico A, Gallus GN (2003) Cerebrotendinous Xanthomatosis [Updated 2024 Nov 14]. In: Adam MP, Bick S, Mirzaa GM (eds) GeneReviews\u00ae. University of Washington, Seattle, 1993\u20132026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1409\/"},{"key":"9490_CR2","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1007\/164_2019_226","volume":"256","author":"S Fiorucci","year":"2019","unstructured":"Fiorucci S, Distrutti E (2019) Chenodeoxycholic Acid: An Update on Its Therapeutic Applications. Handb Exp Pharmacol 256:265\u2013282","journal-title":"Handb Exp Pharmacol"},{"issue":"2","key":"9490_CR3","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1097\/MOL.0000000000000740","volume":"32","author":"AE DeBarber","year":"2021","unstructured":"DeBarber AE, Duell PB (2021) Update on cerebrotendinous xanthomatosis. Curr Opin Lipidol 32(2):123\u2013131","journal-title":"Curr Opin Lipidol"},{"issue":"11","key":"9490_CR4","doi-asserted-by":"publisher","first-page":"2214","DOI":"10.1194\/jlr.M087999","volume":"59","author":"AE DeBarber","year":"2018","unstructured":"DeBarber AE, Kalfon L, Fedida A, Fleisher Sheffer V, Ben Haroush S, Chasnyk N et al (2018) Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment. J Lipid Res 59(11):2214\u20132222","journal-title":"J Lipid Res"},{"issue":"10","key":"9490_CR5","doi-asserted-by":"publisher","first-page":"1606","DOI":"10.1038\/s41436-020-0846-x","volume":"22","author":"X Hong","year":"2020","unstructured":"Hong X, Daiker J, Sadilek M, DeBarber AE, Chiang J, Duan J et al (2020) Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots. Genet Med 22(10):1606\u20131612","journal-title":"Genet Med"},{"issue":"1","key":"9490_CR6","first-page":"105","volume":"56","author":"EP Brass","year":"2020","unstructured":"Brass EP, Stelten BML, Verrips A (2020) Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment. JIMD Rep 56(1):105\u2013111","journal-title":"JIMD Rep"},{"issue":"4","key":"9490_CR7","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.ymgme.2015.10.010","volume":"116","author":"V Appadurai","year":"2015","unstructured":"Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C et al (2015) Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~\u200960,000 human exomes. Mol Genet Metab 116(4):298\u2013304","journal-title":"Mol Genet Metab"},{"issue":"2","key":"9490_CR8","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1007\/s00415-017-8711-9","volume":"265","author":"CB Catarino","year":"2018","unstructured":"Catarino CB, Vollmar C, K\u00fcpper C, Seelos K, Gallenm\u00fcller C, Bartkiewicz J et al (2018) Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. J Neurol 265(2):388\u2013393","journal-title":"J Neurol"},{"issue":"7","key":"9490_CR9","doi-asserted-by":"publisher","first-page":"e637","DOI":"10.1212\/WNL.0000000000004967","volume":"90","author":"MS Makary","year":"2018","unstructured":"Makary MS, Kisanuki YY, Amin NN, Slone HW (2018) Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. Neurology 90(7):e637\u2013e8","journal-title":"Neurology"},{"issue":"5","key":"9490_CR10","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1007\/s10545-014-9805-5","volume":"38","author":"M Brienza","year":"2015","unstructured":"Brienza M, Fiermonte G, Cambieri C, Mignarri A, Dotti MT, Fiorelli M (2015) Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. J Inherit Metab Dis 38(5):981\u2013982","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"9490_CR11","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1111\/cge.14751","volume":"108","author":"R Sultan","year":"2025","unstructured":"Sultan R, Villa-Lopez M, Hung C, McCabe M, Suchowersky O, Urlacher J et al (2025) Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment. Clin Genet 108(3):363\u2013368","journal-title":"Clin Genet"},{"key":"9490_CR12","doi-asserted-by":"publisher","first-page":"682","DOI":"10.3389\/fgene.2020.00682","volume":"11","author":"J Jiang","year":"2020","unstructured":"Jiang J, Chen G, Wu J, Luan X, Zhou H, Liu X et al (2020) c.1263\u2009+\u20091G\u2009>\u2009A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis. Front Genet 11:682","journal-title":"Front Genet"},{"issue":"1","key":"9490_CR13","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1186\/s13023-019-1252-9","volume":"14","author":"QQ Tao","year":"2019","unstructured":"Tao QQ, Zhang Y, Lin HX, Dong HL, Ni W, Wu ZY (2019) Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis. Orphanet J Rare Dis 14(1):282","journal-title":"Orphanet J Rare Dis"},{"key":"9490_CR14","unstructured":"List of variants in gene CYP27A1 reported as likely pathogenic - ClinVar Miner [Internet]. [Cited 2026 May 24]. Available from: https:\/\/clinvarminer.genetics.utah.edu\/variants-by-gene\/CYP27A1\/significance\/likely%20pathogenic"},{"issue":"11","key":"9490_CR15","doi-asserted-by":"publisher","first-page":"1312","DOI":"10.1001\/jamaophthalmol.2019.3639","volume":"137","author":"SF Freedman","year":"2019","unstructured":"Freedman SF, Brennand C, Chiang J, DeBarber A, Del Monte MA, Duell PB et al (2019) Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts. JAMA Ophthalmol 137(11):1312\u20131316","journal-title":"JAMA Ophthalmol"},{"issue":"5","key":"9490_CR16","first-page":"54","volume":"7","author":"W Wejjakul","year":"2017","unstructured":"Wejjakul W, Chatmaitri S, Wattanarojanaporn T, Pongkunakorn A, Ittiwut C, Shotelersuk V (2017) Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. J Orthop Case Rep 7(5):54\u201358","journal-title":"J Orthop Case Rep"},{"key":"9490_CR17","doi-asserted-by":"publisher","first-page":"1566740","DOI":"10.3389\/fneur.2025.1566740","volume":"16","author":"GL Yang","year":"2025","unstructured":"Yang GL, Wang ZX, Zhang L, Chen X, Zhang XD, Xu XL et al (2025) Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis. Front Neurol 16:1566740","journal-title":"Front Neurol"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-09490-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-026-09490-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-09490-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:48:59Z","timestamp":1792370939000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-026-09490-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,19]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["9490"],"URL":"https:\/\/doi.org\/10.1007\/s10072-026-09490-7","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,19]]},"assertion":[{"value":"6 September 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 October 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 October 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The study was reviewed and approved by the Ethics Committee of West China Hospital of Sichuan University. Written informed consent was obtained from the patient for participation.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient for publication of this manuscript and any accompanying images.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflict of interest. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.","order":3,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"867"}}