Reduction of biogenic amine levels in the Rett syndrome.
The Rett syndrome is a progressive disorder in female patients that is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. The results of laboratory investigations are usually normal, with the exception of electroencephalography. In an attempt to understand the pathogenesis of this syndrome, we assayed biogenic amine metabolites in the cerebrospinal fluid of six patients, 2 to 15 years of age. 3-Methoxy-4-hydroxyphenylethylene glycol (MHPG, a metabolite of norepinephrine), homovanillic acid (a metabolite of dopamine), and 5-hydroxyindoleacetic acid (5-HIAA, a metabolite of serotonin) were quantitated by a method involving gas chromatography and mass spectrometry. Levels of MHPG and homovanillic acid were significantly reduced in all the patients as compared with those in controls of similar age (P = 0.01 and 0.008, respectively). The reduction in the level of 5-HIAA was not significantly different from that in the controls (P = 0.15). These findings suggest an underlying disorder of biogenic amines in the Rett syndrome and may provide new insight into its pathogenesis.
H Y
HY
Zoghbi
A K
AK
Percy
D G
DG
Glaze
I J
IJ
Butler
V M
VM
Riccardi
D000293:Adolescent; D001259:Ataxia / Q000134:cerebrospinal fluid* / Q000150:complications; D001321:Autistic Disorder / Q000134:cerebrospinal fluid* / Q000150:complications; D001679:Biogenic Amines / Q000134:cerebrospinal fluid*; D002648:Child; D002675:Child, Preschool; D003704:Dementia / Q000134:cerebrospinal fluid* / Q000150:complications; D004569:Electroencephalography; D004827:Epilepsy / Q000134:cerebrospinal fluid* / Q000150:complications; D005260:Female; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D008734:Methoxyhydroxyphenylglycol / Q000134:cerebrospinal fluid; D009048:Motor Skills; D013239:Stereotyped Behavior; D013497:Sural Nerve / Q000648:ultrastructure; D013577:Syndrome
D001679:Biogenic Amines; D008734:Methoxyhydroxyphenylglycol; D006897:Hydroxyindoleacetic Acid; D006719:Homovanillic Acid