Tuberous sclerosis (Bourneville-Pringle disease) is an inherited disease with a prevalence rate ranging from 1:10,000 to 1:23,000. It is inherited as an autosomal dominant with a variable gene penetrance. However about 60% of cases represent new mutations. This disease is characterized by a defect in cell migration, proliferation and differentiation in organs like skin, brain, kidneys, heart, lungs and eyes. The mechanism involves formation of hamartoma tumours responsible for the functional impairment of these organs.
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A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.
Int J Dev Neurosci
November 2013
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA; Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, CT, USA.
Tuberous sclerosis complex (TSC) is an autosomal dominant monogenetic disorder that is characterized by the formation of benign tumors in several organs as well as brain malformations and neuronal defects. TSC is caused by inactivating mutations in one of two genes, TSC1 and TSC2, resulting in increased activity of the mammalian Target of Rapamycin (mTOR). Here, we explore the cytoarchitectural and functional CNS aberrations that may account for the neurological presentations of TSC, notably seizures, hydrocephalus, and cognitive and psychological impairments.
View Article and Find Full Text PDF[Tuberous sclerosis--symptoms, diagnosis and treatment].
Pol Merkur Lekarski
June 2004
Klinika Chorób Skórnych i Wenerycznych PAM w Szczecinie.
Tuberous sclerosis (Bourneville-Pringle disease) is an inherited disease with a prevalence rate ranging from 1:10,000 to 1:23,000. It is inherited as an autosomal dominant with a variable gene penetrance. However about 60% of cases represent new mutations.
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