Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with variable phenotypic expression, due to a muta- tion in one of the two genes, TSC1 and TSC2, and a subsequent hyperactivation of the downstream mTOR pathway, result- ing 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 molec- ular 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.

Napolioni, V., Moavero, R., Curatolo, P. (2009). Recent advances in neurobiology of Tuberous Sclerosis Complex. BRAIN & DEVELOPMENT [10.1016/j.braindev.2008.09.013,].

Recent advances in neurobiology of Tuberous Sclerosis Complex

MOAVERO, ROMINA;CURATOLO, PAOLO
2009-01-01

Abstract

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with variable phenotypic expression, due to a muta- tion in one of the two genes, TSC1 and TSC2, and a subsequent hyperactivation of the downstream mTOR pathway, result- ing 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 molec- ular 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.
2009
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/39 - NEUROPSICHIATRIA INFANTILE
English
Con Impact Factor ISI
Napolioni, V., Moavero, R., Curatolo, P. (2009). Recent advances in neurobiology of Tuberous Sclerosis Complex. BRAIN & DEVELOPMENT [10.1016/j.braindev.2008.09.013,].
Napolioni, V; Moavero, R; Curatolo, P
Articolo su rivista
File in questo prodotto:
File Dimensione Formato  
Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain Dev. 2009.pdf

solo utenti autorizzati

Dimensione 264.1 kB
Formato Adobe PDF
264.1 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/56369
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 117
  • ???jsp.display-item.citation.isi??? 102
social impact