{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:07:00Z","timestamp":1790554020843,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":6004,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine\u2010guanine phosphoribosyltransferase and Lesch\u2010Nyhan syndrome with varying degrees of mental retardation, dysarthria, chorea, dystonia, spasticity, and ataxia. Four patients had marked reduction of homovanillic acid in the cerebrospinal fluid (CSF) and all showed low CSF 3\u2010methoxy\u20104\u2010hydroxy phenylethylene glycol, indicating reduced dopamine and norepinephrine turnover. Three patients showed high CSF 5\u2010hydroxyindoleacetic acid, suggesting increased serotonin turnover. Some patients improved with carbidopa\u2010levodopa, but others benefited from tetrabenazine, a monoamine\u2010depleting agent. This study provides support for the theory of abnormal central monoamine metabolism in Lesch\u2010Nyhan syndrome.<\/jats:p>","DOI":"10.1002\/ana.410230507","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T13:09:28Z","timestamp":1104584968000},"page":"466-469","source":"Crossref","is-referenced-by-count":106,"title":["Lesch\u2010nyhan syndrome: A study of motor behavior and cerebrospinal fluid neurotransmitters"],"prefix":"10.1002","volume":"23","author":[{"given":"Joseph","family":"Jankovic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas C.","family":"Caskey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Timothy","family":"Stout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian J.","family":"Butler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"447","article-title":"Dopamine agonistinduced locomotor activity in rats treated with 6\u2010hydroxydopamine at differing ages: functional supersensitivity of D1 dopamine receptors in neonatally lesioned rats","volume":"234","author":"Breese GR","year":"1985","journal-title":"J Pharmacol Exp Ther"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410060109"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)91773-8"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)91107-9"},{"key":"e_1_2_1_6_2","first-page":"1","article-title":"Dopamine agonist reduced compulsive biting behavior in monkeys: animal model for Lesch\u2010Nyhan syndrome (abstract)","volume":"239","author":"Goldstein M","year":"1984","journal-title":"Soc Neurosci"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220419"},{"key":"e_1_2_1_8_2","first-page":"365","volume-title":"Facial Dyskinesias. 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