Progress toward treatments for synaptic defects in autism.

Richard Delorme; Elodie Ey; Roberto Toro; Marion Leboyer; Christopher Gillberg; Thomas Bourgeron

Progress toward treatments for synaptic defects in autism.

Richard Delorme ^{1, 2} Elodie Ey ^{1, 2} Roberto Toro ^{1, 2} Marion Leboyer ^{3, 4} Christopher Gillberg ^{5, 6, 7} Thomas Bourgeron ^{1, 4, *}

* Corresponding author

1 Génétique Humaine et Fonctions Cognitives

2 AP-HP Hôpital universitaire Robert-Debré [Paris]

3 IMRB - Institut Mondor de Recherche Biomédicale

4 Fondation FondaMental [Créteil]

5 UCL - University College of London [London]

6 University of Glasgow

7 GU - University of Gothenburg

Abstract : Autism spectrum disorder (ASD) encompasses a range of disorders that are characterized by social and communication deficits and repetitive behaviors. For the majority of affected individuals, the cause of ASD remains unknown, but in at least 20% of the cases, a genetic cause can be identified. There is currently no cure for ASD; however, results from mouse models indicate that some forms of the disorder could be alleviated even at the adult stage. Genes involved in ASD seem to converge on common pathways altering synaptic homeostasis. We propose, given the clinical heterogeneity of ASD, that specific 'synaptic clinical trials' should be designed and launched with the aim of establishing whether phenotype 'reversals' could also occur in humans.

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics / Human genetics

Life Sciences [q-bio] / Neurons and Cognition [q-bio.NC]

Complete list of metadatas

https://hal-pasteur.archives-ouvertes.fr/pasteur-01470299
Contributor : Elodie Ey <>
Submitted on : Tuesday, February 26, 2019 - 1:17:57 PM
Last modification on : Tuesday, February 26, 2019 - 1:20:04 PM

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