Decreased cerebrospinal fluid levels of β‐phenylethylamine in patients with Rett syndrome

To clarify the mechanism of brain impairment in Rett syndrome, we measured the cerebrospinal fluid levels of β‐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. Ann Neurol 2000;47:801–803

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