Substance P immunoreactivity in Rett syndrome

Pediatr Neurol. 2000 Apr;22(4):259-66. doi: 10.1016/s0887-8994(00)00120-x.


Severe autonomic dysfunction occurs in Rett syndrome (RS). Substance P, a tachykinin peptide that localizes to several brain regions, including the autonomic nervous system, is reduced in the cerebrospinal fluid of patients with RS. The anatomic localization and intensity of substance P immunoreactivity and glial fibrillary acidic protein-positive astrocytes in the brains of 14 patients with RS were compared with those in the brains of 10 age-matched normal patients. Substance P immunoreactivity expression was significantly decreased in RS tissue compared with control tissue in the following regions: dorsal horns, intermediolateral column of the spinal cord, spinal trigeminal tract, solitary tract and nucleus, parvocellular and pontine reticular nuclei, and locus ceruleus. A less significant decrease of substance P immunoreactivity occurred in the substantia nigra, central gray of the midbrain, frontal cortex, caudate, putamen, globus pallidus, and thalamus. Antiglial fibrillary acidic protein-positive astrocytes were increased in the areas in which substance P immunoreactivity was decreased and in other brain regions. Because many of the brain regions with the greatest decrease in substance P immunoreactivity are involved in the control of the autonomic nervous system, especially the solitary tracts and reticular formation, reduced substance P may contribute to the autonomic dysfunction in RS.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Antibodies
  • Astrocytes / chemistry
  • Astrocytes / pathology
  • Basal Ganglia / chemistry
  • Basal Ganglia / pathology
  • Brain / pathology*
  • Brain Chemistry*
  • Brain Stem / chemistry
  • Brain Stem / pathology
  • Child
  • Female
  • Frontal Lobe / chemistry
  • Frontal Lobe / pathology
  • Glial Fibrillary Acidic Protein / analysis
  • Glial Fibrillary Acidic Protein / immunology
  • Hippocampus / chemistry
  • Hippocampus / pathology
  • Humans
  • Mesencephalon / chemistry
  • Mesencephalon / pathology
  • Neurons / chemistry
  • Neurons / pathology
  • Rett Syndrome / pathology*
  • Substance P / analysis*
  • Substance P / immunology
  • Thalamus / chemistry
  • Thalamus / pathology


  • Antibodies
  • Glial Fibrillary Acidic Protein
  • Substance P