Thalamus, timing and TSC1 deletions

Tuberous Sclerosis. Tuberous Sclerosis Complex (TSC) is a neurodevelopmental disorder caused by lack of function of the TSC1 or TSC2 tumor suppressor gene. With respect to the Central Nervous System, this disease is characterized by so-called tubers, benign tumors consisting of dysplastic neurons that are highly epileptogenic. Accordingly, TSC is one of the most common causes of West Syndrome. However, there is also evidence for neurological dysfunction beyond tubers. Increasing evidence suggests that the mutations alone can result in abnormalities of neuronal networks, resulting in epilepsy, intellectual disability or autism. The thalamus appears to be a key structure that is affected by this dysfunction. Now, a recent study in Cell explores the effects of TSC1 deletions at different developmental stages with respect to neuronal development in the thalamus. Continue reading