What is tuberous sclerosis?
What is Tuberous Sclerosis? Tuberous sclerosis (also called tuberous sclerosis complex, or TSC) is a rare, multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.
How is tuberous sclerosis complex (TSC) diagnosed?
If the pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible. Tuberous sclerosis complex (TSC) should be suspected in individuals with either one major clinical feature or two or more minor features, as listed below.
What is the role of deep sequencing in the diagnosis of tuberous sclerosis?
Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
How does tuberous sclerosis complex (TSC) regulate autophagy?
A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. Nat Cell Biol. 2013;15:1186–96.
What is tuberous sclerosis complex (Bourneville disease)?
Tuberous sclerosis, also known as tuberous sclerosis complex or Bourneville disease, is a neurocutaneous disorder ( phakomatosis) characterized by the development of multiple benign tumors of the embryonic ectoderm (e.g. skin, eyes, and nervous system). Tuberous sclerosis has an incidence of 1:6000-12,000, with most being sporadic (see below) 1.
Does MR imaging appearance of intracranial manifestations in tuberous sclerosis vary with age?
BACKGROUND AND PURPOSE: The MR imaging appearance of intracranial manifestations in tuberous sclerosis varies with age. The aim of this study was to specify MR characteristics in a coherent group of neonates and infants in order to distinguish them from the mature pattern.
What is the pathophysiology of targettuberous sclerosis (TTS)?
Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including benign hamartomatous tumors in multiple organs.