Recent advances in neurobiology of Tuberous Sclerosis Complex

Valerio Napolioni, Romina Moavero, Paolo Curatolo

Research output: Contribution to journalArticlepeer-review

Abstract

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with variable phenotypic expression, due to a mutation in one of the two genes, TSC1 and TSC2, and a subsequent hyperactivation of the downstream mTOR pathway, resulting in increased cell growth and proliferation. The central nervous system is consistently involved in TSC, with 90% of individuals affected showing structural abnormalities, and almost all having some degree of CNS clinical manifestations, including seizures, cognitive impairment and behavioural problems. TSC is proving to be a particularly informative model for studying contemporary issues in developmental neurosciences. Recent advances in the neurobiology of TSC from molecular biology, molecular genetics, and animal model studies provide a better understanding of the pathogenesis of TSC-related neurological symptoms. Rapamycin normalizes the dysregulated mTOR pathway, and recent clinical trials have demonstrated its efficacy in various TSC manifestations, suggesting the possibility that rapamycin may have benefit in the treatment of TSC brain disease.

Original languageEnglish
Pages (from-to)104-113
Number of pages10
JournalBrain and Development
Volume31
Issue number2
DOIs
Publication statusPublished - Feb 2009

Keywords

  • Autism
  • Epilepsy
  • Mental retardation
  • mTOR
  • Rapamycin
  • TSC1
  • TSC2
  • Tuberous sclerosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health

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