Skip to main content
SpringerLink
Log in

Developmental disorders of activity dependent neuronal plasticity

  • Symphosium on Neurodevelopmental Disordes-I
  • Published:
The Indian Journal of Pediatrics Aims and scope Submit manuscript

Abstract

A number of neurodevelopmental disorders are caused by defects in activity dependent neuronal plasticity, the process by which neuronal activity shapes developing neuronal circuits. These disorders are caused by genetic mutations or other factors that disrupt intracellular signaling pathways that link the cell surface with the nuclear machinery for gene expression. The signaling pathways disrupted by these disorders are involved in learning, memory and behavior as well as in the synaptic proliferation and pruning that occurs during normal development. Examples of neurodevelopmental disorders that target plasticity include X-linked disorders such as Rett, Fragile-X and Coffin-Lowry Syndromes as well as acquired disorders such as cretinism.Several other X-linked mental retardation syndromes as well as autosomal disorders including neurofibromatosis type 1 and tuberous sclerosis also involve signaling pathways involved in neuronal plasticity. Disruption of neuronal plasticity is a mechanism that may underlie a diverse group of neurodevelopmental disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Chugani, HT. Metabolic imaging: a window on brain development and plasticity.The Neuroscientist 1999; 5: 29–40.

    Article  Google Scholar 

  2. Penn AA, Shatz CJ. Brain waves and brain wiring: the role of endogenous and sensory-driven neural activity in development.Pediatr Res 1999; 45:447–458.

    Article  PubMed  CAS  Google Scholar 

  3. Deisseroth K, Bito H, Tsien RW. Signaling from synapse to nucleus: postsynaptic CREB phosphorylation during multiple forms of hippocampal synaptic plasticity.Neuron 1996; 16: 89–101.

    Article  Google Scholar 

  4. Mayford M, Kandel ER. Genetic approaches to memory storage.Trends Genet 1999; 15:463–470.

    Article  PubMed  CAS  Google Scholar 

  5. Johnston MV, Harum KH. Recent progress in the neurology of learning: memory molecules in the developing brain.Dev and Behav Pediatrics 1999; 20:50–56.

    CAS  Google Scholar 

  6. Chelly, J. Breakthrough in molecular and cellular mechanisms underlying X-linked mental retardation.Hum Mol Genetics 8 :1833–1838.

  7. Feng Y, Gutekunst CA, Eberhart DEet al. Fragile-X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes.J Neuroscience 1997; 17:159–47.

    Google Scholar 

  8. Irwin SA, Swain RA, Christmon, CAet al. Evidence for altered Fragile-X mental retardation protein expression in response to behavioral stimulation.Neurobiol Learn Mem 2000; 73: 87–93.

    Article  PubMed  CAS  Google Scholar 

  9. Weiler IJ, Greenough WT. Synaptic synthesis of the fragile X protein: possible involvement in synapse maturation and elimination.Am J Med Genet 1999; 83: 248–52.

    Article  PubMed  CAS  Google Scholar 

  10. Hall A. Rho GTPases and the actin cytoskeleton.Science 1998; 279:509–514.

    Article  Google Scholar 

  11. Allen KM, Gleeson JG, Bagrodia Set al. PAK3 mutation in nonsyndromic X-linked mental retardation.Nat Genet 1998; 279: 509–514.

    Article  Google Scholar 

  12. Gleeson JG, Allen KM, Fox JWet al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.Cell 1998; 92: 63–72.

    Article  PubMed  CAS  Google Scholar 

  13. Silva AJ, Frankland PW, Marowitz Aet al. A mouse model for the learning and memory deficits associated with neurofibromatosis type 1.Nature Genetics 1997; 15:281–284.

    Article  PubMed  CAS  Google Scholar 

  14. Harum KH, Alemi L, Johnston MV. Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation.Neurology 2001; 56: 207–214.

    PubMed  CAS  Google Scholar 

  15. Petrij F, Giles RH, Danwerese HGet al. Rubinstein-Taybi syndrome caused by mutations in transcriptional co-activator CBP.Nature 1996; 376: 348–351.

    Article  Google Scholar 

  16. Gibbons RJ, Picketts DJ, Higgs DR. Syndromal mental retardation due to mutations in a regulator of gene expression.Hum Mol Genet 1995; 4:1705–1709.

    PubMed  CAS  Google Scholar 

  17. Lopes da Silva S, Burbach, JPH: The nuclear hormone receptor family in the brain: classics and orphans.Trends Neurosci 1995; 19: 542–548.

    Google Scholar 

  18. De Cesare D, Jacquot S, Hanauer Aet al. Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene.Proc Natl Acad Sci USA 1998; 95:12202–12207.

    Article  PubMed  Google Scholar 

  19. Naidu S. Rett syndrome: a disorder affecting early brain development.Ann Neurol 1997; 42: 3–10.

    Article  PubMed  CAS  Google Scholar 

  20. Amir RE, Van den Veyver IB, Wan Met al. Rett syndrome is caused by mutations in X-linked MeCP2, encoding methyl-CpG-binding protein 2.Nat Genet 1999; 23:185–188.

    Article  PubMed  CAS  Google Scholar 

  21. Hamosh A, Johnston MV. Nonketotic hyperglycinemia. In Scriver, CR, Beaudet, AL, Sly, WSet al, eds.The Metabolic & Molecular Bases of Inherited Disease. New York McGraw-Hill, 2001:2065–2077.

    Google Scholar 

  22. Johnston MV, Goldstein GW. Selective vulnerability of the developing brain to lead.Curr Opin Neurol 1998; 11:689–693.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Kennedy Krieger Institute, Johns Hopkins University School of Medicine, 707 North Broadway Baltimore, 21205, Maryland, USA

    Michael V. Johnston (Professor of Neurology and Pediatrics)

Authors
  1. Michael V. Johnston
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Michael V. Johnston.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Johnston, M.V. Developmental disorders of activity dependent neuronal plasticity. Indian J Pediatr 68, 423–426 (2001). https://doi.org/10.1007/BF02723021

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02723021

Key words

Search

Navigation