Abstract | PURPOSE OF REVIEW: Recent studies have implicated hundreds of genetic variants in the cause of autism spectrum disorder (ASD). Genes involved in 'monogenic' forms of syndromic ASD converge on common pathways that are involved in synaptic development, plasticity and signaling. In this review, we discuss how these 'developmental synaptopathies' inform our understanding of the molecular disease in ASD and highlight promising approaches that have bridged the gap between the bench and the clinic. RECENT FINDINGS: SUMMARY: Identifying converging pathways in syndromic forms of ASD will uncover novel therapeutic targets for non-syndromic ASD. Insights into developmental synaptopathies will lead to rational development of mechanism-based therapies and clinical trials that may provide a blueprint for other common pathways implicated in the molecular neuropathology of ASD.
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Authors | Darius Ebrahimi-Fakhari, Mustafa Sahin |
Journal | Current opinion in neurology
(Curr Opin Neurol)
Vol. 28
Issue 2
Pg. 91-102
(Apr 2015)
ISSN: 1473-6551 [Electronic] England |
PMID | 25695134
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Review)
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Topics |
- Animals
- Autistic Disorder
(genetics, therapy)
- Disease Models, Animal
- Fragile X Syndrome
(genetics)
- Genetic Predisposition to Disease
- Humans
- Synapses
(genetics)
- Tuberous Sclerosis
(genetics)
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