TDK conference 2020

Autism spectrum disorder (ASD) is a group of neurological disorders characterized by developmental, behavioral and social deficits, most notably reciprocal and nonverbal communication. These individuals also suffer from difficulties with attention and normal play, cognitive deficits and sensorimotor abilities. ASD involves several genetic risk factors, thus producing a large spectrum of severity and characteristics. One of the most well-studied genes is CNTNAP2, which codes for a protein within the neurexin superfamily. Cntnap2 is involved in neuronal cell-cell interactions throughout the nervous system and has been localized to various brain regions including the cortex, hypothalamus, hippocampus, cerebellum and more. Mice lacking this protein have shown various abnormalities in dendritic arborization in addition to behavioral changes associated with these brain regions. In this study, we analyze the ultrastructure of the neuropil with transmission-electron microscopy within the cerebellum and hippocampus, focusing on the morphology of synaptic dendritic spines. We quantitatively compare the overall density of synaptic connections, in addition to their relative maturity in comparison to wild type animals. Our data correlates with that of previous functional studies and shows abnormalities in synapse development within these brain regions. These findings bring us one step closer to understanding the complexity of neurological deficits in patients with ASD.