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Updated: Jun 22, 2025
Using Primary Neurosphere Cultures to Study Primary Cilia
Published on: April 14, 2017
Synapse and primary cilia dysfunctions in Autism Spectrum Disorders. Avenues to normalize these functions
J-J Hauw1, C Hausser-Hauw2, C Barthélémy3
1Académie nationale de médecine, 16, rue Bonaparte, 75272 Paris cedex 06, France; Laboratoire de neuropathologie Raymond-Escourolle, hôpital universitaire Pitié-Salpêtrière, Paris, France.
Aim:
An update on the plasticity of the brain networks involved in autism (autism spectrum disorders [ASD]), and the increasing role of their synapses and primary non-motile cilia.
Methods:
Data from PubMed and Google on this subject, published until February 2024, were analyzed.
Results:
Structural and functional brain characteristics and genetic particularities involving synapses and cilia that modify neuronal circuits are observed in ASD, such as reduced pruning of dendrites, minicolumnar pathology, or persistence of connections usually doomed to disappear. Proteins involved in synapse functions (such as neuroligins and neurexins), in the postsynaptic architectural scaffolding (such as Shank proteins) or in cilia functions (such as IFT-independent kinesins) are often abnormal. There is an increase in glutaminergic transmission and a decrease in GABA inhibition. ASD may occur in genetic ciliopathies. The means of modulating these specificities, when deemed useful, are described.
Interpretation:
The wide range of clinical manifestations of ASD is strongly associated with abnormalities in the morphology, functions, and plasticity of brain networks, involving their synapses and non-motile cilia. Their modulation offers important research perspectives on treatments when needed, especially since brain plasticity persists much later than previously thought. Improved early detection of ASD and additional studies on synapses and primary cilia are needed.
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