Tuberous Sclerosis Complex - 28/05/15

Doi : 10.1016/j.pcl.2015.03.005

Francis J. DiMario, MD ^a,^⁎ , Mustafa Sahin, MD ^b, Darius Ebrahimi-Fakhari, MD ^c
^a Department of Pediatrics, Neurogenetics–Tuberous Sclerosis Clinic, Connecticut Children’s Medical Center, 282 Washington Street, Hartford, CT 06070, USA
^b Multidisciplinary Tuberous Sclerosis Program, Department of Neurology, Boston Children’s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA
^c Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA

^∗Corresponding author.

Résumé

Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13. The clinical phenotypes resulting from mutations in either of the 2 genes are variable in each individual. Herein, advances in the understanding of molecular mechanisms in tuberous sclerosis complex are reviewed, and current guidelines for diagnosis, treatment, follow-up, and management are summarized.

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Keywords : Neurocutaneous, Neurogenetic, Tuberous sclerosis complex, Subependymal giant cell astrocytoma, Epilepsy, Autism, Mechanistic target of rapamycin (mTOR), Rapamycin

Plan

Practical Management, Follow-up, and Surveillance

Novel Treatment Approaches

Summary

Disclosures: F.J. DiMario has received research grant support from Novartis; Research in the Sahin laboratory is supported by the NIH (U01 NS082320, P20 NS080199, P30 HD018655), Department of Defense (W81XWH-13-1-0040), Tuberous Sclerosis Alliance (2013DB17Y2), Autism Speaks (8703), Nancy Lurie Marks Family Foundation (88736), Simons Foundation, Boston Children’s Hospital Translational Research Program (96854), Novartis, Roche, and Shire (73403) (M. Sahin); D. Ebrahimi-Fakhari acknowledges support from the Graduate Academy of the University of Heidelberg, the Young Investigator Award Program at Ruprecht-Karls-University Heidelberg Faculty of Medicine, the Daimler and Benz Foundation (Daimler und Benz Stiftung, Ladenburg, Germany), and the Reinhard-Frank Foundation (Reinhard-Frank-Stiftung, Hamburg, Germany) and has received financial support from Actelion Pharmaceuticals for attending an international scientific meeting in 2014.

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Vol 62 - N° 3

P. 633-648 - juin 2015 Retour au numéro

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Tuberous Sclerosis Complex - 28/05/15

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