{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T15:21:33Z","timestamp":1789658493394,"version":"4.0.1"},"reference-count":10,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2015,7,22]],"date-time":"2015-07-22T00:00:00Z","timestamp":1437523200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Mult Scler"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Children with untreated biotinidase deficiency can experience variable symptoms depending on their age of presentation. Older children and adolescents can exhibit predominant neurological deficits including para- or tetraparesis and vision loss.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We report the first case of delayed-onset biotinidase deficiency in a young adult.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A 22-year-old man presented with a disabling extensive myelopathy and bilateral optic neuropathy which mimicked the findings of a (seronegative) neuromyelitis optica. Imaging investigations were characterized by an MRI T2 hyper-intensity involving the spinal cord, the optic nerves, the fornix and the mammillar bodies, together with an increased\n                      <jats:sup>18<\/jats:sup>\n                      F-FDG uptake on positron emission tomography. He was ultimately shown to have profound biotinidase deficiency due to a novel missense mutation and was partly improved by oral biotin therapy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>This individual exemplifies the need to include biotinidase deficiency in the differential diagnosis of patients with extensive myelopathy and\/or bilateral optic neuropathy and argues for newborn screening for the disorder.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/1352458515596457","type":"journal-article","created":{"date-parts":[[2015,7,22]],"date-time":"2015-07-22T21:49:31Z","timestamp":1437601771000},"page":"1604-1607","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":56,"title":["Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood"],"prefix":"10.1177","volume":"21","author":[{"given":"Laure","family":"Bottin","sequence":"first","affiliation":[{"name":"Department of Neurology, Saint-Antoine University Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Prud\u2019hon","sequence":"additional","affiliation":[{"name":"Department of Neurology, Saint-Antoine University Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Guey","sequence":"additional","affiliation":[{"name":"Department of Neurology, Saint-Antoine University Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Giannesini","sequence":"additional","affiliation":[{"name":"Department of Neurology, Saint-Antoine University Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry","family":"Wolf","sequence":"additional","affiliation":[{"name":"Department of Research Administration, Henry Ford Hospital, Detroit, USA\/Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirit","family":"Pindolia","sequence":"additional","affiliation":[{"name":"Department of Research Administration, Henry Ford Hospital, Detroit, USA\/Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Stankoff","sequence":"additional","affiliation":[{"name":"Department of Neurology, Saint-Antoine University Hospital, Paris, France\/Sorbonne Universit\u00e9s; UPMC Univ Paris 06; UMR S 1127; CNRS UMR 7225; ICM, F-75013, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2015,7,22]]},"reference":[{"key":"bibr1-1352458515596457","first-page":"3935","volume-title":"The metabolic and molecular bases of inherited disease","author":"Wolf B","year":"2001","edition":"8"},{"key":"bibr2-1352458515596457","volume-title":"GeneReviews(\u00ae)","author":"Wolf B","year":"2012"},{"key":"bibr3-1352458515596457","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.6"},{"key":"bibr4-1352458515596457","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70464-0"},{"key":"bibr5-1352458515596457","doi-asserted-by":"publisher","DOI":"10.1534\/g3.113.005835"},{"key":"bibr6-1352458515596457","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70216-8"},{"key":"bibr7-1352458515596457","doi-asserted-by":"publisher","DOI":"10.1016\/j.mayocp.2013.07.019"},{"key":"bibr8-1352458515596457","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001367"},{"key":"bibr9-1352458515596457","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808318062"},{"key":"bibr10-1352458515596457","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.06.010"}],"container-title":["Multiple Sclerosis Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1352458515596457","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1352458515596457","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1352458515596457","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:44:46Z","timestamp":1777693486000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1352458515596457"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,22]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1177\/1352458515596457"],"URL":"https:\/\/doi.org\/10.1177\/1352458515596457","relation":{},"ISSN":["1352-4585","1477-0970"],"issn-type":[{"value":"1352-4585","type":"print"},{"value":"1477-0970","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,22]]}}}