Decreased cerebrospinal fluid levels of beta-phenylethylamine in patients with Rett syndrome.
To clarify the mechanism of brain impairment in Rett syndrome, we measured the cerebrospinal fluid levels of beta-phenylethylamine (PEA) in 17 patients with Rett syndrome. Findings were compared with those obtained in age-matched controls and diseased controls. The cerebrospinal fluid level of PEA was significantly lower in patients with Rett syndrome than in the controls (31% of control values). The alteration in the cerebrospinal fluid level of PEA may reflect dopamine system impairment in Rett syndrome.
Satoi
M
M
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
Matsuishi
T
T
Yamada
S
S
Yamashita
Y
Y
Ohtaki
E
E
Mori
K
K
Riikonen
R
R
Kato
H
H
Percy
A K
AK
D000328:Adult; D000368:Aged; D001321:Autistic Disorder / Q000134:cerebrospinal fluid; D002648:Child; D004827:Epilepsy / Q000134:cerebrospinal fluid; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D008875:Middle Aged; D010627:Phenethylamines / Q000134:cerebrospinal fluid*; D012016:Reference Values; D015518:Rett Syndrome / Q000134:cerebrospinal fluid* / Q000503:physiopathology
D010627:Phenethylamines; C029261:phenethylamine