{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T21:35:24Z","timestamp":1778880924403,"version":"3.51.4"},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7246,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a previously apparently undescribed, X\u2010linked recessive basal ganglia disorder segregating in three generations of one family. The affected patients were variably mentally retarded, although some showed strengths in oral reading and memory. Most affected males had frontal bossing and increased head circumference with large calvaria in relation to facial bones. Their height and weight did not differ from that of other relatives; testicular size was average, chromosomes were normal, and results of laboratory investigations for known metabolic disorders were normal.<\/jats:p><jats:p>All patients examined had neurological impairment, including persistent frontal lobe reflexes, cogwheel rigidity, postural changes, and Parkinsonian\u2010type tremors. Some had strabismus; several had seizures.<\/jats:p><jats:p>Although carriers of the condition were not consistently abnormal, two had suggestive signs. No definitive indication of the disorder was documented in infancy in any affected male, and it is possible that this could be due to lack of careful prospective clinical evaluation rather than to the absence of symptoms in early life.<\/jats:p>","DOI":"10.1002\/ajmg.1320210409","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:25Z","timestamp":1118519965000},"page":"681-689","source":"Crossref","is-referenced-by-count":32,"title":["An X\u2010linked recessive basal ganglia disorder with mental retardation"],"prefix":"10.1002","volume":"21","author":[{"given":"Renata","family":"Laxova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleanor S.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirk","family":"Hogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurt","family":"Hecox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"325","article-title":"Some examples of the inheritance of mental deficiency: Apparently sex\u2010linked idiocy and microcephaly","volume":"48","author":"Allan W","year":"1944","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070409"},{"key":"e_1_2_1_4_1","unstructured":"HoganK LaxovaR BrownE HecoxK(1982) X\u2010linked recessive basal ganglia disorder with mental retardation. Abstract.Proc Am Ac Neurol"},{"key":"e_1_2_1_5_1","first-page":"214","article-title":"Familial X\u2010linked recessive retardation, verbal disability, and marker X chromosomes","volume":"31","author":"Howard\u2010Peebles PN","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198009183031202"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070403"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T09:51:41Z","timestamp":1695808301000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1002\/ajmg.1320210409"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210409","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,8]]}}}