Abstract
We immunohistochemically examined neurotransmitter systems, which function in the
brainstem and are involved in neuronal organization of respiration, in an autopsy
brain from a patient with Rett syndrome (RS). Immunoreactivity (IR) for tyrosine hydroxylase,
a functional marker for catecholaminergic neurons, was severely reduced in the locus
ceruleus, while that for tryptophan hydroxylase involved in serotonin synthesis was
spared in the raphe nuclei. In the brainstem, IR for substance P (SP) was reduced
in the parabrachial complex and that for methionine-enkephalin (met-enk) was affected
in the parabrachial, hypoglossal, dorsal vagal and solitary nuclei. In addition, expressions
of these neuropeptides were also disturbed in the basal ganglia. A widespread altered
expression of antagonistic neuropeptides, SP and met-enk, may be involved in the pathogenesis
of RS, especially in its respiratory manifestation.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
