Inflammatory mechanisms contribute to the neurological manifestations of tuberous sclerosis complex

Protein Function ◽

Learning Task ◽

Neurological Manifestations ◽

Intractable Seizures

The recent development of several mouse models for tuberous sclerosis complex (TSC) provides in vivo systems to test new therapies for the neurological manifestations of TSC. Rapamycin is known to antagonize the effects of loss of TSC protein function in vitro and in mouse TSC models, rapamycin can prevent seizures and improve learning task performance. These findings provide new hope for TSC patients suffering from intractable seizures and possibly, for those with autism and cognitive disabilities.

Neurological Manifestations of Tuberous Sclerosis Complex

CNS Drugs ◽

10.2165/00023210-199503030-00003 ◽

1995 ◽

Vol 3 (3) ◽

pp. 174-185 ◽

Cited By ~ 2

Author(s):

Richard E. Appleton ◽

Alan E. Fryer

Keyword(s):

Tuberous Sclerosis ◽

NitroSynapsin for the treatment of neurological manifestations of tuberous sclerosis complex in a rodent model

Neurobiology of Disease ◽

10.1016/j.nbd.2019.03.029 ◽

2019 ◽

Vol 127 ◽

pp. 390-397 ◽

Cited By ~ 2

Author(s):

Shu-ichi Okamoto ◽

Olga Prikhodko ◽

Juan Pina-Crespo ◽

Anthony Adame ◽

Scott R. McKercher ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Rodent Model ◽

Application of FDA-Approved Memantine and Newer NitroMemantine Derivatives to Treat Neurological Manifestations in Rodent Models of Tuberous Sclerosis Complex

10.21236/ada604193 ◽

2014 ◽

Author(s):

Stuart A. Lipton

Keyword(s):

Tuberous Sclerosis ◽

Rodent Models ◽

PND19 HUMANISTIC AND ECONOMIC BURDEN IN TUBEROUS SCLEROSIS COMPLEX WITH NEUROLOGICAL MANIFESTATIONS: SYSTEMATIC REVIEW

Value in Health ◽

10.1016/j.jval.2011.02.1129 ◽

2011 ◽

Vol 14 (3) ◽

pp. A205

Author(s):

L. Hallett ◽

T. Foster ◽

J. Valentim ◽

M. Blieden ◽

Z. Liu

Keyword(s):

Systematic Review ◽

Tuberous Sclerosis ◽

Economic Burden ◽

The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex

Journal of Neurodevelopmental Disorders ◽

10.1186/s11689-019-9289-6 ◽

2019 ◽

Vol 11 (1) ◽

Cited By ~ 5

Author(s):

Michael Wong

Keyword(s):

Intellectual Disability ◽

Tuberous Sclerosis ◽

Glial Cells ◽

Genetic Disorder ◽

Main Body ◽

Neurological Manifestations ◽

Molecular Abnormalities ◽

Different Types

Abstract Background Tuberous sclerosis complex (TSC) is a genetic disorder characterized by severe neurological manifestations, including epilepsy, intellectual disability, autism, and a range of other behavioral and psychiatric symptoms, collectively referred to as TSC-associated neuropsychiatric disorders (TAND). Various tumors and hamartomas affecting different organs are the pathological hallmarks of the disease, especially cortical tubers of the brain, but specific cellular and molecular abnormalities, such as involving the mechanistic target of rapamycin (mTOR) pathway, have been identified that also cause or contribute to neurological manifestations of TSC independent of gross structural lesions. In particular, while neurons are immediate mediators of neurological symptoms, different types of glial cells have been increasingly recognized to play important roles in the phenotypes of TSC. Main body This review summarizes the literature supporting glial dysfunction from both mouse models and clinical studies of TSC. In particular, evidence for the role of astrocytes, microglia, and oligodendrocytes in the pathophysiology of epilepsy and TAND in TSC is analyzed. Therapeutic implications of targeting glia cells in developing novel treatments for the neurological manifestations of TSC are also considered. Conclusions Different types of glial cells have both cell autonomous effects and interactions with neurons and other cells that are involved in the pathophysiology of the neurological phenotype of TSC. Targeting glial-mediated mechanisms may represent a novel therapeutic approach for epilepsy and TAND in TSC patients.

Neurological manifestations of tuberous sclerosis complex

Child s Nervous System ◽

10.1007/bf00261603 ◽

1996 ◽

Vol 12 (9) ◽

Cited By ~ 24

Author(s):

Paolo Curatolo

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex fulfilling the criteria set by the 2012 International Tuberous Sclerosis Complex Consensus Conference: A case report (Preprint)

10.2196/preprints.30283 ◽

2021 ◽

Author(s):

Aimen Malik ◽

Arshia Akbar ◽

Gohar Ashraf ◽

Hammad Akram

Keyword(s):

Tuberous Sclerosis ◽

Consensus Conference ◽

Benign Tumors ◽

Early Age ◽

Neurological Manifestations ◽

Pathological Features ◽

Clinical Criteria ◽

The Brain ◽

Clinical Diagnostic Criteria

UNSTRUCTURED Tuberous Sclerosis Complex (TSC) is a rare multisystem neuro-cutaneous disorder associated with the growth of benign tumors in different organs such as the brain, lungs, kidneys, heart, and eye. The dermatological findings of this disorder are very common; present at early age and not easy to miss. The neurological manifestations of TSC include seizures, autism, and intellectual disabilities. Furthermore, intracranial abnormalities and hamartoma formation in the heart and other organs are found among sufferers. The clinical diagnostic criteria have been critically evaluated and updated in the 2012 International Tuberous Sclerosis Conference. The diagnosis is based on genetic criteria, clinical criteria, and various manifestations of skin, kidneys, lungs, and brain. The management involves multispecialty and multidisciplinary approaches. Here, we present a case of a 13-years-old female with characteristic clinical, radiological, and pathological features of TSC. The patient had many dermatological manifestations of the condition.