{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:42:54Z","timestamp":1790419374814,"version":"4.1.0"},"reference-count":61,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,9,17]],"date-time":"2017-09-17T00:00:00Z","timestamp":1505606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Basic Science Research Program from Korea National Research Foundation","award":["NRF-2013R1A1A3013182"],"award-info":[{"award-number":["NRF-2013R1A1A3013182"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Sj\u00f6gren\u2010Larsson syndrome (<jats:styled-content style=\"fixed-case\">SLS<\/jats:styled-content>) is caused by an autosomal recessive mutation in <jats:italic><jats:styled-content style=\"fixed-case\">ALDH3A2<\/jats:styled-content><\/jats:italic>, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long\u2010chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di\u2010\/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures. To date, correlations between genotype and phenotype have proven difficult to document due to low disease incidence and high heterogenetic variability in mutations. This review summarizes the clinical characteristics of <jats:styled-content style=\"fixed-case\">SLS<\/jats:styled-content> that have been found to contribute to the prognosis thereof, as well as recent updates from genetic and brain imaging studies. In addition, the differential diagnoses of <jats:styled-content style=\"fixed-case\">SLS<\/jats:styled-content> are briefly illustrated, covering cerebral palsy and other genetic or neurocutaneous syndromes mimicking the syndrome.<\/jats:p>","DOI":"10.1111\/cge.13058","type":"journal-article","created":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T16:00:20Z","timestamp":1495728020000},"page":"721-730","source":"Crossref","is-referenced-by-count":22,"title":["Clinical, biochemical, and genetic aspects of Sj\u00f6gren\u2010Larsson syndrome"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3818-9403","authenticated-orcid":false,"given":"K.H.","family":"Cho","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Medicine CHA Bundang Medical Center, CHA University  Seongnam Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.H.","family":"Shim","sequence":"additional","affiliation":[{"name":"Genetics Laboratory, 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