title: Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review.
abstract: Tuberous sclerosis complex (TSC) is a genetic multisystem disorder associated with constitutive overactivation of the mammalian target of rapamycin (mTOR) pathway and characterized by development of benign tumours in various organs. mTOR inhibitors have proven to be effective in the targeted therapy of certain TSC-associated pathologies such as subependymal giant cell astrocytomas (SEGAs) and renal angiomyolipomas (AMLs). Accumulating experimental and clinical data suggest that mTOR inhibitors might have a systemic, disease-modifying influence on affected individuals. This systematic review provides an analysis of available clinical data concerning systemic effect of mTOR inhibitors and the influence of mTOR inhibition on different manifestations of TSC in individual patients.
authors.affiliation: Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: K
authors.initials: K
authors.lastname: Sadowski
authors.affiliation: Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: K
authors.initials: K
authors.lastname: Kotulska
authors.affiliation: Dermatology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School, Rutgers University, Newark, NJ, USA.|Rutgers University School of Public Affairs and Administration, Newark, NJ, USA.
authors.forename: R A
authors.initials: RA
authors.lastname: Schwartz
authors.affiliation: Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.|Department of Child Neurology, Warsaw Medical University, Warsaw, Poland.
authors.forename: S
authors.initials: S
authors.lastname: Jóźwiak
mesh_terms: D006801:Humans; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors*; D014402:Tuberous Sclerosis / Q000188:drug therapy*
chemical_list: C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases