Autism spectrum disorder (ASD) is increasingly linked with dysfunction of the cerebellum, but the details, to date, have been murky. Now, a rare genetic syndrome known as tuberous sclerosis complex (TSC) is providing a glimpse.
TSC includes features of ASD in about half of all cases. Previous brain autopsies have shown that patients with TSC, as well as patients with ASD in general, have reduced numbers of Purkinje cells, the main type of neuron that communicates out of the cerebellum.
In a 2012 mouse study, team led by Mustafa Sahin, MD, at Boston Children’s Hospital, knocked out a TSC gene (Tsc1) in Purkinje cells. They found social deficits and repetitive behaviors in the mice, together with abnormalities in the cells.