{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T14:13:35Z","timestamp":1778681615291,"version":"3.51.4"},"reference-count":65,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":6824,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1986,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a family consisting of 3 affected men with congenital ichthyosis, anosmia, hypogonadism, nystagmus with decreased visual acuity, strabismus, hypopigmentation of the iris, and mirror movements of the hands and feet. Two of them had limitation of ocular movement and unilateral renal agenesis or hypoplasia. The condition appears to be inherited as an X\u2010linked recessive trait. Clinical, pathological, and biochemical evaluations were compatible with a diagnosis of X\u2010linked ichthyosis. Steroid sulfatase and arylsulfatase C activities in leukocytes and fibroblasts were markedly diminished in the affected patients. Their hypogonadism was due to decreased luteninizing hormone\u2013releasing hormone secretion (hypogonadotropic). Hyposecretion of antidiuretic hormone was also recognized. Chromosome analysis of leukocytes and skin fibroblasts revealed a normal 46,XY male karyotype in all of the patients.<\/jats:p>","DOI":"10.1002\/ana.410190211","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:27:52Z","timestamp":1104600472000},"page":"174-181","source":"Crossref","is-referenced-by-count":54,"title":["A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C"],"prefix":"10.1002","volume":"19","author":[{"given":"Nobuhiko","family":"Sunohara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Sakuragawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eijiro","family":"Satoyoshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayako","family":"Tanae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larry J.","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01583.x"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00329124"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-38-6-1083"},{"key":"e_1_2_1_5_2","first-page":"381","article-title":"Recent advances in olfactory tests","volume":"45","author":"Asaka H","year":"1973","journal-title":"Jibiinkoka (Tokyo)"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(59)90119-6"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-7-11-753"},{"key":"e_1_2_1_8_2","first-page":"41","volume-title":"Endocrinology","author":"Celotti F","year":"1979"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.38.197.49"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00312882"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198410183111603"},{"key":"e_1_2_1_12_2","first-page":"309","article-title":"Etudes sur les dysraphies cr\u00e2nio\u2010enc\u00e9phaliques. 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