{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:34:19Z","timestamp":1777804459678,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T00:00:00Z","timestamp":1627430400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["U54 HD061939"],"award-info":[{"award-number":["U54 HD061939"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:p>\n                    Sj\u00f6gren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in\n                    <jats:italic>ALDH3A2<\/jats:italic>\n                    and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of life. Except for worsening ambulation due to spastic diplegia and contractures, the neurologic disease has been considered static and a neurodegenerative course is distinctly unusual. We describe a young child with Sj\u00f6gren-Larsson syndrome who exhibited an early and severely progressive neurologic phenotype that may have been triggered by a febrile rotavirus infection. Together with 7 additional published cases of these atypical patients, we emphasize that a neurodegenerative course can be an extreme outcome for a minority of patients with Sj\u00f6gren-Larsson syndrome.\n                  <\/jats:p>","DOI":"10.1177\/08830738211029390","type":"journal-article","created":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T03:55:48Z","timestamp":1627444548000},"page":"1011-1016","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["A Neurodegenerative Phenotype Associated With Sj\u00f6gren-Larsson Syndrome"],"prefix":"10.1177","volume":"36","author":[{"given":"Simone","family":"Warrack","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Child Health Research Institute, University of Nebraska Medical Center and Children\u2019s Hospital &amp; Medical Center, Omaha, NE, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terri","family":"Love","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Child Health Research Institute, University of Nebraska Medical Center and Children\u2019s Hospital &amp; Medical Center, Omaha, NE, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3686-0518","authenticated-orcid":false,"given":"William B.","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Child Health Research Institute, University of Nebraska Medical Center and Children\u2019s Hospital &amp; Medical Center, Omaha, NE, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,7,28]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.08.006"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2016.1154453"},{"key":"e_1_3_3_4_2","first-page":"1","article-title":"Oligophrenia in combination with congenital ichthyosis and spastic disorders","volume":"32","author":"Sj\u00f6gren T","year":"1957","unstructured":"Sj\u00f6gren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Neurol Scand. 1957;32:1\u2013113.","journal-title":"Acta Psychiatr Neurol Scand"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00704.x"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23679"},{"key":"e_1_3_3_7_2","first-page":"649","article-title":"MR imaging and proton MR spectroscopic studies in Sj\u00f6gren-Larsson syndrome: characterization of the leukoencephalopathy","volume":"25","author":"Willemsen MAAP","year":"2004","unstructured":"Willemsen MAAP, Van Der Graaf M, Van Der Knaap MS, et al. MR imaging and proton MR spectroscopic studies in Sj\u00f6gren-Larsson syndrome: characterization of the leukoencephalopathy. AJNR Am J Neuroradiol. 2004;25:649\u2013657.","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12099"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.015"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812460581"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.11.006"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0663-0"},{"key":"e_1_3_3_13_2","first-page":"519","article-title":"Sj\u00f6gren-Larsson syndrome: physical and neurological features","volume":"37","author":"Jagell S","year":"1982","unstructured":"Jagell S, Heijbel J. Sj\u00f6gren-Larsson syndrome: physical and neurological features. A survey of 35 patients. Helv Paediatr Acta. 1982;37:519\u2013530.","journal-title":"A survey of 35 patients. Helv Paediatr Acta"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12276622"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050490"},{"key":"e_1_3_3_16_2","first-page":"2239","volume-title":"The Metabolic & Molecular Bases of Inherited Disease","author":"Rizzo WB","year":"2001","unstructured":"Rizzo WB. Sj\u00f6gren-Larsson syndrome: fatty aldehyde dehydrogenase deficiency. In: Scriver CR, ed. The Metabolic & Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:2239\u20132258."},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12275"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738211029390","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738211029390","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738211029390","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:40:11Z","timestamp":1777495211000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738211029390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,28]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1177\/08830738211029390"],"URL":"https:\/\/doi.org\/10.1177\/08830738211029390","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,28]]}}}