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Ann Neurol. 1988 May;23(5):466-9.

Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.

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1
Department of Neurology, Baylor College of Medicine, Houston, TX 77030.

Abstract

We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase and Lesch-Nyhan 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-methoxy-4-hydroxy phenylethylene glycol, indicating reduced dopamine and norepinephrine turnover. Three patients showed high CSF 5-hydroxyindoleacetic acid, suggesting increased serotonin turnover. Some patients improved with carbidopa-levodopa, but others benefited from tetrabenazine, a monoamine-depleting agent. This study provides support for the theory of abnormal central monoamine metabolism in Lesch-Nyhan syndrome.

PMID:
2455472
DOI:
10.1002/ana.410230507
[Indexed for MEDLINE]
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