Abnormalities in neuronal maturation in Rett syndrome neocortex: Preliminary molecular correlates

W. E. Kaufmann, C. V. Taylor, C. F. Hohmann, I. B. Sanwal, S. Naidu

Research output: Contribution to journalArticlepeer-review

47 Scopus citations


In correspondence with the severe cognitive impairment and autistic features of Rett syndrome (RS), multiple anomalies of the cerebral cortex that include generalized reductions in dendritic arborizations and in cholinergic markers have been found. Considering the potential role of neurotransmitters in cortical differentiation, we have studied the relationship between cholinergic deficit and dendritic protein expression in RS and in a relevant animal model. Dendritic development is characterized by the sequential expression of cytoskeletal proteins whose levels remain relatively stable in adult life. Using quantitative immunoblotting, we have determined that in RS there is a reduction in proteins linked to early dendritic development [microtubule-associated protein (MAP)-5, MAP-2]. By contrast, in Down syndrome there is relative generalized increase in dendritic proteins. Mice with basal forebrain lesions at birth, which transiently decrease cholinergic innervation to the cortex, showed in adulthood reductions in MAP-2 that resemble those seen in RS. We conclude that dendritic anomalies in RS represent disturbances in early cortical differentiation and that cholinergic deficit may play a critical role in their pathogenesis as suggested by the animal data.

Original languageEnglish (US)
Pages (from-to)75-77
Number of pages3
JournalEuropean Child and Adolescent Psychiatry
Issue numberSUPPL. 1
StatePublished - 1997


  • Cerebral cortex
  • Cholinergic innervation
  • Dendritic proteins
  • Mouse
  • Rett syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology
  • Psychiatry and Mental health


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