An update on the central nervous system manifestations of tuberous sclerosis complex

Acta Neuropathol. 2020 Apr;139(4):613-624. doi: 10.1007/s00401-019-02003-1. Epub 2019 Apr 11.


The autosomal dominant disorder tuberous sclerosis complex (TSC) is characterized by an array of manifestations both within and outside of the central nervous system (CNS), including hamartomas and other malformations. TSC is caused by mutations in the TSC1 or TSC2 gene resulting in activation of the mechanistic target of rapamycin (mTOR) signaling pathway. Study of TSC has shed light on the critical role of the mTOR pathway in neurodevelopment. This update reviews the genetic basis of TSC, its cardinal phenotypic CNS features, and recent developments in the field of TSC and other mTOR-altered disorders.

Keywords: Focal cortical dysplasia; Hamartin; Subependymal giant cell astrocytoma (SEGA); Subependymal nodule; TSC1; TSC2; Tuber; Tuberin; Tuberous sclerosis; mTOR.

Publication types

  • Review

MeSH terms

  • Central Nervous System Diseases / genetics*
  • Central Nervous System Diseases / pathology*
  • Genetic Predisposition to Disease
  • Humans
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / pathology*