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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Changes of neurotransmitters in the brainstem of patients with respiratory-pattern disorders during childhood.

We examined neuropathologically and immunohistochemically the respiratory centers in the brainstem of two patients with Joubert syndrome ( JS), three patients with congenital central hypoventilation syndrome (CCHS) and a patient with apneustic breathing (prolonged inspiratory pause) due to unknown etiology. Immunoreactivity (IR) of tryptophan hydroxylase (TPH) was decreased in the dorsal raphe nuclei of two patients with JS compared with age-matched controls, as well as in two patients with Dandy-Walker malformation. The two JS patients showed vermian defect and elongated cerebellar peduncles, and peculiar vascularities in the midline of the whole brainstem were also noted in one of these patients. These findings, as a whole, confirm that the midline structures of brainstem are disordered both structurally and functionally in JS, conceivably resulting in respiratory patterns and psychomotor deficits. IR of serotonin 1A receptor showed no significant changes in the medulla oblongata of these patients, however. In the parabrachial complex, IR of substance P was increased in two patients with CCHS, and one with apneustic breathing. IR of tyrosine hydroxylase was also increased in the latter. The brainstem of these patients showed reactive astrogliosis. These findings suggest preceding hypoxic episodes as well as an increased activity in the parabrachial complex which plays an important role in conducting the driving force to the medullary respiratory neurons from ascending sensory pathways.[1]


  1. Changes of neurotransmitters in the brainstem of patients with respiratory-pattern disorders during childhood. Saito, Y., Ito, M., Ozawa, Y., Obonai, T., Kobayashi, Y., Washizawa, K., Ohsone, Y., Takami, T., Oku, K., Takashima, S. Neuropediatrics. (1999) [Pubmed]
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