Researcher at Columbia University Irving Medical Center Details Research in Tuberous Sclerosis (Cytoplasmic vacuolization and ectopic formation of perineuronal nets are characteristic pathologies of cytomegalic neurons in tuberous sclerosis).

A recent study conducted at Columbia University Irving Medical Center has examined the cellular pathology of cytomegalic neurons in tuberous sclerosis complex (TSC). The researchers used a murine Tsc1 conditional knockout model to compare the cellular pathology of these neurons to those in human cortical tubers. They found that the cytomegalic neurons in both mice and humans exhibited unique features, such as cytoplasmic vacuoles associated with Golgi complexes and the ectopic formation of perineuronal nets (PNNs). These findings provide new insights into the pathological features of Golgi complexes and PNNs in TSC. [Extracted from the article]