{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T21:17:36Z","timestamp":1762377456384,"version":"3.37.3"},"reference-count":30,"publisher":"Georg Thieme Verlag KG","issue":"09","license":[{"start":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T00:00:00Z","timestamp":1696377600000},"content-version":"vor","delay-in-days":33,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (ALDH3A2), clinically characterized by ichthyosis, spastic diplegia, and cognitive impairment. Brain imaging plays an essential role in the diagnosis, demonstrating a nonspecific leukoencephalopathy. Data regarding brain atrophy and grey matter involvement is scarce and discordant.<\/jats:p><jats:p>\n          Objective\u2003We performed a volumetric analysis of the brain of two siblings with SLS with the aim of detecting deep grey matter nuclei, cerebellar grey matter, and brainstem volume reduction in these patients.<\/jats:p><jats:p>\n          Methods\u2003Volume data obtained from the brain magnetic resonance imaging (MRI) of the two patients using an automated segmentation software (Freesurfer) was compared with the volumes of a healthy control group.<\/jats:p><jats:p>\n          Results\u2003Statistically significant volume reduction was found in the cerebellum cortex, the brainstem, the thalamus, and the pallidum nuclei.<\/jats:p><jats:p>\n          Conclusion\u2003Volume reduction in grey matter leads to the hypothesis that SLS is not a pure leukoencephalopathy. Grey matter structures affected in the present study suggest a dysfunction more prominent in the thalamic motor pathways.<\/jats:p>","DOI":"10.1055\/s-0043-1772601","type":"journal-article","created":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T18:32:50Z","timestamp":1698172370000},"page":"809-815","source":"Crossref","is-referenced-by-count":1,"title":["Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software"],"prefix":"10.1055","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6009-8607","authenticated-orcid":false,"given":"Jos\u00e9 Thiago de Souza de","family":"Castro","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Anestesiologia, Oncologia e Radiologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1357-6899","authenticated-orcid":false,"given":"Camilo Lotfi","family":"Saab","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Anestesiologia, Oncologia e Radiologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6925-8307","authenticated-orcid":false,"given":"Mariam Patr\u00edcia Auada","family":"Souto","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Cl\u00ednica M\u00e9dica, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1851-845X","authenticated-orcid":false,"given":"Juliane Giselle","family":"Ortolam","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Anestesiologia, Oncologia e Radiologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5148-3063","authenticated-orcid":false,"given":"Carlos Eduardo","family":"Steiner","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Medicina Translacional , Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8453-0313","authenticated-orcid":false,"given":"Thiago Junqueira Ribeiro de","family":"Rezende","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Neurologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2256-4379","authenticated-orcid":false,"given":"Fabiano","family":"Reis","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Anestesiologia, Oncologia e Radiologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,10,4]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1111\/j.1365-2133.2006.07135.x","article-title":"Sj\u00f6gren-Larsson syndrome in Brazil is caused by a common c.1108-1G\u2013>C splice-site mutation in the ALDH3A2 gene","volume":"154","author":"M P Auada","year":"2006","journal-title":"Br J Dermatol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"13","DOI":"10.2147\/TACG.S193969","article-title":"Sjogren-Larsson Syndrome: Mechanisms and Management","volume":"13","author":"P S Bindu","year":"2020","journal-title":"Appl Clin Genet"},{"issue":"08","key":"ref3","first-page":"1561","article-title":"MR of the brain in Sj\u00f6gren-Larsson syndrome","volume":"18","author":"F Van Mieghem","year":"1997","journal-title":"AJNR Am J Neuroradiol"},{"issue":"04","key":"ref4","first-page":"649","article-title":"MR imaging and proton MR spectroscopic studies in Sj\u00f6gren-Larsson syndrome: characterization of the leukoencephalopathy","volume":"25","author":"M A Willemsen","year":"2004","journal-title":"AJNR Am J Neuroradiol"},{"issue":"02","key":"ref5","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1006\/nimg.1998.0395","article-title":"Cortical surface-based analysis. 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