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Cell Adhesion Molecules in Synaptopathies

  • Thomas BourgeronEmail author
Chapter
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Abstract

Synaptopathies are human disorders caused by a defect in synapse formation or function. In the first 3 years of life, the ability of children for learning is impressive and correlates with an intense phase of synaptogenesis in their brains. During this critical period, cell adhesion molecules (CAMs) are crucial factors for the identification of the appropriate partner cell and the formation of a functional synapse. Consistent with their key roles in brain development, mutations in brain CAMs can lead to a variety of neurological disorders such as deafness, epilepsy, mental retardation, and autism spectrum conditions (ASC). Furthermore, polymorphisms of brain CAMs within the human population may also play a role in the susceptibility to milder cognitive disorders. This chapter reports several examples of CAM mutations that are associated with human brain disorders and highlights the emerging key roles of these molecules in the susceptibility to neurologic and psychiatric conditions.

Keywords

Autism Psychiatry Synapse Synaptogenesis 

Notes

Acknowledgments

I would like to thank Michael Hortsch and Hisashi Umemori for their critical reading of this chapter. This work was supported by the Pasteur Institute, INSERM, Assistance Publique-Hôpitaux de Paris, FP6 TISM MOLGEN, FP6 ENI-NET, Fondation Orange, Fondation de France, Fondation biomédicale de la Mairie de Paris, Fondation pour la Recherche Médicale and FondaMental.

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© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  1. 1.Human Genetics and Cognitive Functions Units, Institut Pasteur, 25 rue du Docteur RouxParisFrance

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