Cortical tubers demonstrate reduced immunoreactivity for synapsin I.

To evaluate the effects of tuberous sclerosis (TS) on cortical synaptic organization, we analyzed synaptic densities within cortical tubers from the brains of two TS patients using a polyclonal antibody directed against synapsin I, a synaptic terminal-specific protein. The synaptic densities of the tubers and adjacent histologically normal cortex were obtained by determining optical densities using an IBAS (Zeiss) image analysis system. The tubers showed abnormally low levels of synapsin I compared with the normal cortex. The data suggest that cortical tubers do not contain a normal complement of synapses. This may reflect focal underdevelopment of normal cortical-cortical connections. Altered afferent cortical projections may also contribute to synaptic loss in cortical tubers.