Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
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.
Jankovic
J
J
Department of Neurology, Baylor College of Medicine, Houston, TX 77030.
Caskey
T C
TC
Stout
J T
JT
Butler
I J
IJ
D002230:Carbidopa / Q000627:therapeutic use; D002395:Catecholamines / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005476:Fluphenazine / Q000627:therapeutic use; D006018:Glycols / Q000134:cerebrospinal fluid*; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid*; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid*; D007926:Lesch-Nyhan Syndrome / Q000134:cerebrospinal fluid* / Q000150:complications / Q000188:drug therapy; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008734:Methoxyhydroxyphenylglycol / Q000134:cerebrospinal fluid*; D009069:Movement Disorders / Q000134:cerebrospinal fluid / Q000188:drug therapy / Q000209:etiology*; D012652:Self Mutilation / Q000134:cerebrospinal fluid / Q000188:drug therapy / Q000209:etiology*; D013747:Tetrabenazine / Q000627:therapeutic use
D002395:Catecholamines; D006018:Glycols; D007980:Levodopa; D008734:Methoxyhydroxyphenylglycol; D006897:Hydroxyindoleacetic Acid; D002230:Carbidopa; D005476:Fluphenazine; D006719:Homovanillic Acid; D013747:Tetrabenazine