{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:21Z","timestamp":1772160081765,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T00:00:00Z","timestamp":1745712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disease due to biallelic pathogenic variants in\n                    <jats:italic>CYP27A1<\/jats:italic>\n                    . We report a newly diagnosed patient and the outcome of the chenodeoxycholic acid (CDCA) treatment. This is a 36\u2010year\u2010old male with progressive lower limb spasticity, learning difficulties, and early cataracts. He was diagnosed by targeted next generation sequencing panel for hereditary spastic paraparesis (c.379C&gt;T; p.Arg127Trp and c.1072C&gt;T; p.Gln358* in\n                    <jats:italic>CYP27A1<\/jats:italic>\n                    ) with CTX at the age of 33\u2009years. Brain and spine magnetic resonance imaging (MRI) revealed increased T2 signal intensity in the dentate nuclei and bilateral posterolateral spinal cord. Baseline plasma 7a\u2010hydroxy\u20104\u2010cholesten\u20103\u2010one (&gt;\u20095; ref. range &lt;\u20090.300\u2009nmol\/mL) and 7a,12a dihydroxycholest\u20104\u2010en\u20103\u2010one (&gt;\u20095; ref. range &lt;\u20090.100\u2009nmol\/mL) were markedly elevated. Baseline full\u2010scale IQ was 69. The CDCA treatment (750\u2009mg\/day) was started at the age of 34\u2009years. Plasma 7a\u2010hydroxy\u20104\u2010cholesten\u20103\u2010one level was normalized; plasma 7a,12a dihydroxycholest\u20104\u2010en\u20103\u2010one level was markedly improved (0.755\u2009nmol\/mL; ref. range &lt;\u20090.1) and full\u2010scale IQ improved to 83 at two years of the CDCA treatment. This patient highlights improvements in neurocognitive functions despite late diagnosis and late initiation of treatment and exemplifies the importance of diagnosing a treatable disease at any age to improve neurocognitive outcomes.\n                  <\/jats:p>","DOI":"10.1111\/cge.14751","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T02:54:37Z","timestamp":1745808877000},"page":"363-368","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment"],"prefix":"10.1111","volume":"108","author":[{"given":"Randa","family":"Sultan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Villa\u2010Lopez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"},{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"Hung","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morganne","family":"McCabe","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oksana","family":"Suchowersky","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"},{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"},{"name":"Neuroscience and Mental Health Institute University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordan","family":"Urlacher","sequence":"additional","affiliation":[{"name":"Adult Neuropsychology Service, Kaye Edmonton Clinic University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8396-6764","authenticated-orcid":false,"given":"Saadet","family":"Mercimek\u2010Andrews","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"},{"name":"Neuroscience and Mental Health Institute University of Alberta  Edmonton Alberta Canada"},{"name":"Women and Children's Health Research Institute University of Alberta  Edmonton Alberta Canada"},{"name":"Medical Genetics Clinic Alberta Health Services  Edmonton Zone Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41392\u2010024\u201001811\u20106"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01980-5"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010018\u20100152\u20109"},{"key":"e_1_2_8_5_1","volume-title":"NCBI Bookshelf","author":"Federico A.","year":"2024"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198412273112601"},{"key":"e_1_2_8_7_1","unstructured":"Mayo Clinic Laboratories \u201cTest Catalog: Overview 65631.\u201dn.d. Mayo Clinic Laboratories. Retrieved March 23 2025 https:\/\/www.mayocliniclabs.com\/test\u2010catalog\/overview\/65631."},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006731"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNF.0b013e318288076a"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010018\u20100162\u20107"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010017\u20108440\u20100"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2014.04.017"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2009.09.036"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010019\u201009650\u20100"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010015\u20109873\u20101"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14751","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T03:32:06Z","timestamp":1754278326000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14751"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,27]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1111\/cge.14751"],"URL":"https:\/\/doi.org\/10.1111\/cge.14751","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14751\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14751\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14751\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14751\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14751\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,27]]},"assertion":[{"value":"2025-02-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}