{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T15:33:01Z","timestamp":1769441581187,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2001,6,1]],"date-time":"2001-06-01T00:00:00Z","timestamp":991353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Of the primary dementing disorders that cause frontotemporal dementia, the best\u2010known is Pick disease. We report on a 44\u2010year\u2010old woman with progressive frontal lobe dementia and spastic paraplegia. Examination revealed increased serum levels of cholestanol with abnormal cholesterol metabolism and a heterozygous mutation of the sterol 27\u2010hydroxylase gene (<jats:italic>CYP27<\/jats:italic>). Biochemical findings were compatible with cerebrotendinous xanthomatosis (CTX); however, the clinical manifestations were very dissimilar. To our knowledge, a symptomatic carrier of this mutation among CTX patients has not been reported. We speculate that the present patient has a previously undescribed neurodegenerative disease related to abnormal cholesterol metabolism with this heterozygous mutation.<\/jats:p>","DOI":"10.1023\/a:1010564920930","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T17:42:08Z","timestamp":1040665328000},"page":"379-392","source":"Crossref","is-referenced-by-count":32,"title":["Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27\u2010hydroxylase gene (<b><i>CYP27<\/i><\/b>)"],"prefix":"10.1002","volume":"24","author":[{"given":"S.","family":"Sugama","sequence":"first","affiliation":[{"name":"Department of Psychiatry Amekudai Hospital  Okinawa"},{"name":"Department of Pediatrics The Jikei University School of Medicine  Tokyo"},{"name":"Institute of DNA Medicine The Jikei University School of Medicine  Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine  Kurume"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Physiological Chemistry and Metabolism, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Physiological Chemistry and Metabolism, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Seyama","sequence":"additional","affiliation":[{"name":"Department of Physiological Chemistry and Metabolism, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Taira","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Amekudai Hospital  Okinawa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Eto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Jikei University School of Medicine  Tokyo"},{"name":"Institute of DNA Medicine The Jikei University School of Medicine  Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170313"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(82)90004-3"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1176\/ajp.145.3.354"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(94)90059-0"},{"key":"e_1_2_1_6_1","first-page":"2073","volume-title":"The Metabolic and Molecular Basis of Inherited Disease","author":"Bjorkhem I","year":"1995"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(20)89518-0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)37212-6"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112187"},{"key":"e_1_2_1_10_1","first-page":"599","volume-title":"Handbook of Clinical Neurology","author":"Federico A","year":"1996"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-7091-6892-9_6"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0447.1982.tb00840.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9673(01)81617-4"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)40096-3"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199904010-00022"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410340609"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)37809-3"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.9.1633"},{"key":"e_1_2_1_19_1","first-page":"907","article-title":"Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics","volume":"55","author":"Leitersdorf E","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1998.tb00157.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.2.288"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1979.00500450086021"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1999.tb00992.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.6.1546"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00135a001"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005053-198309000-00008"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112633"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1998.tb00162.x"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(97)00063-7"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.1.124"},{"key":"e_1_2_1_31_1","first-page":"1125","article-title":"Frontal lobe dementia and motor neuron disease","volume":"47","author":"Talbot PR","year":"1996","journal-title":"J Neural Transm"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(95)00250-4"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1010564920930","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1010564920930","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:22:24Z","timestamp":1694816544000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1010564920930"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,6]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,6]]}},"alternative-id":["10.1023\/A:1010564920930"],"URL":"https:\/\/doi.org\/10.1023\/a:1010564920930","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,6]]}}}