Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 32 (7), 402-12

The Emerging Role of Synaptic Cell-Adhesion Pathways in the Pathogenesis of Autism Spectrum Disorders


The Emerging Role of Synaptic Cell-Adhesion Pathways in the Pathogenesis of Autism Spectrum Disorders

Catalina Betancur et al. Trends Neurosci.


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.

Similar articles

  • Multiple Rare Variants in the Etiology of Autism Spectrum Disorders
    JD Buxbaum. Dialogues Clin Neurosci 11 (1), 35-43. PMID 19432386. - Review
    Recent studies in autism spectrum disorders (ASDs) support an important role for multiple rare variants in these conditions. This is a clinically important finding, as, w …
  • Autism and the Synapse: Emerging Mechanisms and Mechanism-Based Therapies
    D Ebrahimi-Fakhari et al. Curr Opin Neurol 28 (2), 91-102. PMID 25695134. - Review
    Identifying converging pathways in syndromic forms of ASD will uncover novel therapeutic targets for non-syndromic ASD. Insights into developmental synaptopathies will le …
  • Autism and Fragile X Syndrome
    TW Yu et al. Semin Neurol 34 (3), 258-65. PMID 25192504. - Review
    Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Ad …
  • Advances in Behavioral Genetics: Mouse Models of Autism
    SS Moy et al. Mol Psychiatry 13 (1), 4-26. PMID 17848915. - Review
    Autism is a neurodevelopmental syndrome with markedly high heritability. The diagnostic indicators of autism are core behavioral symptoms, rather than definitive neuropat …
  • Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism
    KM Huber et al. J Neurosci 35 (41), 13836-42. PMID 26468183. - Review
    The mammalian target of rapamycin (mTOR) is a central regulator of a diverse array of cellular processes, including cell growth, proliferation, autophagy, translation, an …
See all similar articles

Cited by 107 PubMed Central articles

See all "Cited by" articles

Publication types

MeSH terms


LinkOut - more resources