期刊
NEUROPHARMACOLOGY
卷 68, 期 -, 页码 97-105出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.neuropharm.2012.05.015
关键词
Tuberous sclerosis; TSC; mTOR; Rapamycin; Autism; Cognition; Epilepsy
资金
- Medical Research Council Funding Source: Medline
Tuberous sclerosis (TSC) is a neurocutaneous disorder with an autosomal-dominant pattern of inheritance and is caused by heterozygous mutations in the TSC1 or TSC2 gene. Neuropsychiatric conditions, including intellectual disability, autism and epilepsy, are highly prevalent in TSC populations. Here, I review recent findings that shed light on some of the neurobiological mechanisms that may contribute to the pathogenesis of TSC-associated neuropsychiatric impairments. Emerging intervention studies in animal models show striking effects of mTORC1 inhibitors on TSC-related CNS manifestations. Translational studies that assess the effects of mTORC1 inhibitors on neuropsychiatric phenotypes in human TSC individuals are underway. This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
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