{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T08:59:15Z","timestamp":1791622755605,"version":"4.3.4"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,11,8]],"date-time":"2005-11-08T00:00:00Z","timestamp":1131408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27\u2010sterol hydroxylase (CYP27). We report a 53\u2010year\u2010old man, with an unusual phenotype of CTX. He had xanthomas since adolescence. He had no mental retardation and developed at 44 years a progressive neuropsychiatric phenotype, suggestive of fronto\u2010temporal dementia according to clinical Neary criteria. Cataract and ataxia were absent. Cerebral MRI revealed diffuse hyperintense T2 abnormalities in the supratentorial white matter without cerebellar atrophy or lesions, while Technetium\u201099m\u2010ECD brain SPECT revealed a severe cerebellar hypoperfusion. Serum cholestanol level was elevated with excessive urinary bile alcohols excretion. Mutation analysis revealed that he was compound heterozygous for two mutations in the <jats:italic>CYP27A1<\/jats:italic> gene: 1016 C\u2009&gt;\u2009T (exon 5) on one allele and a novel mutation, 1435C\u2009&gt;\u2009G (exon 8) on the other allele. A follow\u2010up study was conducted to evaluate the effects of chenodeoxycholic acid (CDCA) and simvastatin treatment during 3 years. In spite of this treatment, cognitive functions declined but no other signs of neurological deterioration appeared. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30797","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T19:55:30Z","timestamp":1132170930000},"page":"114-117","source":"Crossref","is-referenced-by-count":38,"title":["Unusual cerebrotendinous xanthomatosis with fronto\u2010temporal dementia phenotype"],"prefix":"10.1002","volume":"139A","author":[{"given":"Lucie","family":"Guyant\u2010Mar\u00e9chal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aad","family":"Verrips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Girard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron A.","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fokje","family":"Zijlstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Sistermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Vera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Campion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Hannequin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,11,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198412273112601"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110742"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(20)89518-0"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.1.121"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.6.1546"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.3.434"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)41198-8"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00231-6"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0026-0495(99)90040-9"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.5.908"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.4.520"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30797","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30797","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T05:34:53Z","timestamp":1697607293000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30797"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11,8]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["10.1002\/ajmg.a.30797"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30797","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,11,8]]}}}