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Lesch‐nyhan syndrome: A study of motor behavior and cerebrospinal fluid neurotransmitters
Author(s) -
Jankovic Joseph,
Caskey Thomas C.,
Stout J. Timothy,
Butler Ian J.
Publication year - 1988
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410230507
Subject(s) - homovanillic acid , tetrabenazine , dystonia , carbidopa , lesch–nyhan syndrome , medicine , chorea , endocrinology , cerebrospinal fluid , monoamine neurotransmitter , catalepsy , dopamine , dopaminergic , psychology , serotonin , levodopa , neuroscience , chemistry , parkinson's disease , haloperidol , disease , hypoxanthine guanine phosphoribosyltransferase , biochemistry , receptor , mutant , gene
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.