Tuberous Sclerosis (Bourneville's Disease)

An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina. There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes. Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS, INFANTILE; Shagreen patches on the trunk; and subungual fibromas. (From Adams et al., Principles of Neurology, 6th ed, p1011)

Also Known As:

Networked: 1495 relevant articles (68 outcomes, 113 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Infantile Spasms (West Syndrome)
2.	Epilepsy (Aura)
3.	Neoplasms (Cancer)
4.	Seizures (Seizure)
5.	Angiomyolipoma

Experts

1.	Kwiatkowski, David J: 32 articles (12/2015 - 10/2002)
2.	Moss, Joel: 29 articles (11/2015 - 03/2002)
3.	Franz, David Neal: 18 articles (12/2014 - 01/2006)
4.	Henske, Elizabeth P: 16 articles (07/2015 - 12/2002)
5.	Pacheco-Rodriguez, Gustavo: 15 articles (03/2015 - 03/2002)
6.	Krymskaya, Vera P: 14 articles (12/2015 - 08/2003)
7.	Thiele, Elizabeth A: 14 articles (09/2015 - 02/2004)
8.	Rosner, Margit: 14 articles (08/2013 - 08/2003)
9.	Hengstschläger, Markus: 14 articles (08/2013 - 08/2003)
10.	Jozwiak, Sergiusz: 13 articles (12/2015 - 01/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Tuberous Sclerosis:

1.	VigabatrinFDA Link 03/01/2012 - "In tuberous sclerosis, vigabatrin may be considered the first-line treatment for IS. " 01/01/2004 - "Vigabatrin has shown promise in treating IS patients, particularly those with tuberous sclerosis. " 07/01/1998 - "However, since 1990, some authors have reported the efficacy of vigabatrin (VGB), especially in cases related to tuberous sclerosis. " 02/01/1999 - "Paradoxically, in those without tuberous sclerosis complex, vigabatrin might be less efficacious than suggested by studies including patients with tuberous sclerosis complex." 08/01/1997 - "To study the pharmacokinetics of vigabatrin in a patient affected with tuberous sclerosis who developed major agitation and aggression, while receiving vigabatrin orally (1.5 g every 12 h) and in whom impaired renal function was diagnosed. "
2.	Sirolimus (Rapamycin)FDA Link 07/01/2015 - "Clinical and Histologic Analysis of the Efficacy of Topical Rapamycin Therapy Against Hypomelanotic Macules in Tuberous Sclerosis Complex." 07/01/2015 - "Efficacy of Rapamycin in Tuberous Sclerosis-Associated Hypopigmented Macules: Back to the Future." 09/01/2012 - "Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin." 05/21/2008 - "Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function." 03/01/2005 - "Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models."
3.	everolimusFDA Link 07/01/2015 - "The short-term efficacy and safety of everolimus in patients with tuberous sclerosis complex has been demonstrated in placebo-controlled trials, and open-label extension studies are ongoing to monitor long-term effects, including safety. " 06/01/2014 - "EXamining everolimus In a Study of Tuberous Sclerosis Complex-1 (NCT00789828), a prospective, double-blind, randomized, placebo-controlled, Phase 3 study, examined everolimus in treating SEGA associated with TSC. " 09/01/2015 - "Also, recently approved drug Everolimus may be considered for patients not suitable for surgery particularly in tumour seen with tuberous sclerosis. " 07/01/2015 - "Further investigation is needed to determine the long-term efficacy and safety of everolimus in patients with tuberous sclerosis complex." 07/01/2015 - "We conducted a literature search of PubMed to identify published articles about the long-term efficacy and safety of everolimus in patients with tuberous sclerosis complex. "
4.	Adrenocorticotropic Hormone (ACTH)FDA Link 12/01/1997 - "VGB was more effective than ACTH as treatment for cerebral malformations or tuberous sclerosis, whereas ACTH proved more effective in perinatal hypoxic/ischemic injury. " 11/01/2001 - "In tuberous sclerosis, the initial response rate to ACTH was high (73%) and did not differ from the response rate to VGB in other series. " 03/01/1999 - "Intracardiac morphology and hemodynamic performance should be monitored to avoid critical complications during ACTH treatment in patients with tuberous sclerosis." 12/01/2005 - "As initial therapy for infantile spasms caused by tuberous sclerosis, viagabatrin was treatment of choice, with adrenocorticotropic hormone (ACTH) also first line. " 03/01/1999 - "In an infant with tuberous sclerosis and West syndrome, ACTH treatment was interrupted because of augmentation of the biventricular outflow tract obstruction. "
5.	tuberous sclerosis complex 2 protein (tuberin)IBA 09/15/2011 - "Mimicking a mutation found in a subset of patients with tuberous sclerosis, we found a significant reduction in the binding between tuberin and cyclin B1. " 08/01/2013 - "Recent studies indicated that the tuberous sclerosis 2 (TSC2) gene product, tuberin, regulates Rac1 activity. " 06/01/2014 - "The TSC2 gene, mutated in patients with tuberous sclerosis complex (TSC), encodes a 200 kDa protein TSC2 (tuberin). " 06/01/2012 - "regulatory Thr/Tyr in Erks 1 and 2, Tyr in signal transducers and activators of transcription (Stat) 5a and 5b, Ser939 in tuberous sclerosis protein (TSC) 2 or tuberin). " 01/01/2012 - "Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin."
6.	Lennox-Gastaut type Epileptic encephalopathyIBA 05/01/2013 - "We introduced a low glycemic index treatment using Japanese ethnic foods to a 13-year-old girl with Lennox-Gastaut syndrome caused by tuberous sclerosis complex. " 01/01/1992 - "Tuberous sclerosis, agenesis of the corpus callosum and Lennox-Gastaut syndrome: mere chance or a new syndrome?" 11/01/1989 - "Lennox-Gastaut syndrome in association with tuberous sclerosis." 04/01/2011 - "Examples of causes of Lennox-Gastaut syndrome include migrational abnormalities of the brain, late effects of CNS infections, certain genetic disorders such as tuberous sclerosis, and inherited metabolic disorders. " 07/01/2001 - "Its reported benefits for behavior, and its effectiveness in Lennox-Gastaut syndrome and other forms of refractory epilepsy, make it a logical choice for treatment of epilepsy in tuberous sclerosis complex (TSC). "
7.	Retinaldehyde (Retinal)IBA 06/01/2015 - "Reduction in retinal nerve fiber layer thickness in tuberous sclerosis complex." 11/01/2014 - "They also describe a new retinal finding in tuberous sclerosis termed giant retinal achromic patch." 11/01/2014 - "A retinal achromic patch is the second most common retinal finding in tuberous sclerosis. " 09/01/2012 - "Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings." 03/01/2012 - "Retinal pigment epithelial depigmented lesions associated with tuberous sclerosis complex."
8.	Anticonvulsants (Antiepileptic Drugs)IBA 06/01/2015 - "Inhibitors of mTORC1 have recently been shown to be effective treatments for some manifestations of tuberous sclerosis; they are now being assessed as potential novel antiepileptic drugs in tuberous sclerosis and related disorders. " 08/01/2015 - "Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs." 06/01/2013 - "Epilepsy in tuberous sclerosis is relatively benign and an acceptable degree of control is achieved in most cases with a number of the antiepileptic drugs recommended in the treatment guidelines. " 05/01/2006 - "Tuberous sclerosis complex (OMIM 191100) is a multiorgan disease commonly associated with epilepsy refractory to anticonvulsants. " 12/01/1985 - "Echocardiography and electrocardiography should be routinely performed in the assessment of patients with tuberous sclerosis and ambulatory electrocardiography should be considered in those with seizures that respond poorly to anticonvulsants."
9.	topiramate (Topamax)FDA LinkGeneric 11/01/2011 - "[Efficacy of topiramate for relapsed epileptic spasms with tuberous sclerosis: report of three cases]." 01/01/2014 - "Timing and clinical characteristics of topiramate-induced psychosis in a patient with epilepsy and tuberous sclerosis." 01/01/2005 - "Authors presented the data on the efficacy and tolerability of the new anticonvulsant drug topiramate (topamax) in the treatment of 110 children aged from 6 months to 16 years with pharmacoresistant types of epilepsy including 42 patients with tuberous sclerosis. " 10/01/2012 - "For example, although adrenocorticotropic hormone continues to be the most commonly used first-line treatment for infantile spasms not due to tuberous sclerosis, some clinicians use corticosteroids, vigabatrin, and topiramate as first-line treatments for this group. "
10.	tuberous sclerosis complex 1 protein (hamartin)IBA 10/01/2015 - "We examined the potential benefit of gene therapy in a mouse model of tuberous sclerosis complex (TSC) in which there is embryonic loss of Tsc1 (hamartin) in brain neurons. " 10/01/2015 - "Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model." 08/01/2013 - "Tuberous sclerosis complex 1 (hamartin) is an effective endogenous neuroprotectant. " 03/01/2009 - "Dissociate expression of tuberous sclerosis complex 1 product hamartin in a skin and pulmonary lesion of a tuberous sclerosis complex." 11/01/2000 - "We have assessed the sensitivity and specificity of this method for analysis of the full coding sequence of the hamartin (TSC1) gene in 20 tuberous sclerosis patients, whose TSC1 genes previously had been studied by single strand conformation polymorphism analysis and protein truncation assay. "

Therapies and Procedures

1.	Nephrectomy 01/01/2014 - "[Lifesaving bilateral nephrectomy complicating Bourneville tuberous sclerosis]." 03/01/2013 - "Different minimally invasive methods have been proposed to treat renal manifestation of tuberous sclerosis complex (TSC), in order to preserve kidney parenchyma and avoid nephrectomy. " 12/01/2004 - "We report a 57-year-old female without tuberous sclerosis who developed multiple pulmonary AML 26 years after a right nephrectomy for renal AML. " 07/01/2003 - "We report a 28-yearold- man with tuberous sclerosis complex (TSC) who had undergone a left nephrectomy one year before for the treatment of RC. " 06/01/2002 - "Bilateral AML is not always associated with tuberous sclerosis, however, in patients with tuberous sclerous thorough sampling of nephrectomy specimen is recommended."
2.	Vagus Nerve Stimulation 09/01/2001 - "Vagal nerve stimulation in tuberous sclerosis complex patients." 07/01/2010 - "Vagus nerve stimulation can be considered an effective and safe therapeutic option in patients with tuberous sclerosis and refractory epilepsy who are not candidates for epilepsy surgery." 09/01/2001 - "Vagal nerve stimulation appears to be an effective and well-tolerated adjunctive therapy in patients with tuberous sclerosis complex and seizures refractory to medical therapy. " 08/01/2008 - "The aim of the study described here was to characterize the efficacy and safety of vagus nerve stimulation in a population of patients with tuberous sclerosis complex (TSC) and intractable epilepsy. " 07/01/2010 - "Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis."
3.	Dye Lasers 02/01/2014 - "The dye laser as an alternative uses the principles of selective photothermolysis and is very effective in treating the vascular component of tuberous sclerosis. " 07/01/2010 - "New technique using combined pulsed dye laser and fractional resurfacing for treating facial angiofibromas in tuberous sclerosis." 11/01/2009 - "Treatment of angiofibromas of tuberous sclerosis with 5-aminolevulinic acid blue light photodynamic therapy followed by immediate pulsed dye laser." 02/01/2014 - "A retrospective study, conducted from 2007 to May 2013, investigated 13 patients who had tuberous sclerosis treated with an erbium:YAG/CO2/dye laser combination. " 02/01/2014 - "Co2/Erbium:YAG/Dye laser combination: an effective and successful treatment for angiofibromas in tuberous sclerosis."
4.	Kidney Transplantation 01/01/2003 - "Anesthetic management of a patient with tuberous sclerosis presenting for renal transplantation." 01/01/1994 - "[Renal transplantation in Bourneville tuberous sclerosis]." 08/01/1992 - "Renal transplantation in tuberous sclerosis." 03/01/1990 - "Outcome of patients with tuberous sclerosis after renal transplantation." 11/01/1987 - "[Renal transplantation and Bourneville's tuberous sclerosis]."
5.	Lasers (Laser) 02/01/2014 - "The use of all these lasers to treat skin lesions in patients affected by tuberous sclerosis has never been described in the literature. " 10/01/2004 - "Tuberous sclerosis complex lesions of the skin may be disfiguring to patients and can only be treated by laser or cosmetic surgery. " 12/01/2014 - "Laser treatment of angiofibromas in tuberous sclerosis." 06/01/2009 - "A 10-year-old boy with tuberous sclerosis was treated with cyclodiode laser for right rubeotic glaucoma. " 08/01/2002 - "Data on the benefits, adverse effects and appropriate types of laser treatment for angiofibromas (AF) in patients with tuberous sclerosis (TS) are limited. "