The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders.

Abstract : Recent advances in genetics and genomics have unveiled numerous cases of autism spectrum disorders (ASDs) associated with rare, causal genetic variations. These findings support a novel view of ASDs in which many independent, individually rare genetic variants, each associated with a very high relative risk, together explain a large proportion of ASDs. Although these rare variants impact diverse pathways, there is accumulating evidence that synaptic pathways, including those involving synaptic cell adhesion, are disrupted in some subjects with ASD. These findings provide insights into the pathogenesis of ASDs and enable the development of model systems with construct validity for specific causes of ASDs. In several neurodevelopmental disorders frequently associated with ASD, including fragile X syndrome, Rett syndrome and tuberous sclerosis, animal models have led to the development of new therapeutic approaches, giving rise to optimism with other causes of ASDs.
Document type :
Journal articles
Trends in Neurosciences, Elsevier, 2009, 32 (7), pp.402-412. 〈10.1016/j.tins.2009.04.003〉
Liste complète des métadonnées

Cited literature [139 references]  Display  Hide  Download

http://www.hal.inserm.fr/inserm-00401195
Contributor : Catalina Betancur <>
Submitted on : Thursday, July 2, 2009 - 4:39:57 PM
Last modification on : Monday, June 25, 2018 - 2:24:24 PM
Document(s) archivé(s) le : Tuesday, June 15, 2010 - 5:39:19 PM

File

Betancur_ASD_review_TINS_2009....
Files produced by the author(s)

Identifiers

Collections

Citation

Catalina Betancur, Takeshi Sakurai, Joseph D Buxbaum. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders.. Trends in Neurosciences, Elsevier, 2009, 32 (7), pp.402-412. 〈10.1016/j.tins.2009.04.003〉. 〈inserm-00401195〉

Share

Metrics

Record views

1042

Files downloads

1078