The autosomal dominant disorder tuberous sclerosis complex (TSC) is characterized by an array of manifestations both within and outside of the central nervous system (CNS), including hamartomas and other malformations. TSC is caused by mutations in the TSC1 or TSC2 gene resulting in activation of the mechanistic target of rapamycin (mTOR) signaling pathway. Study of TSC has shed light on the critical role of the mTOR pathway in neurodevelopment. This update reviews the genetic basis of TSC, its cardinal phenotypic CNS features, and recent developments in the field of TSC and other mTOR-altered disorders.

中文翻译：

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结节性硬化症复合体的中枢神经系统表现的更新。

常染色体显性遗传性结节性硬化症复合体（TSC）的特征是在中枢神经系统（CNS）内外都有一系列表现，包括错构瘤和其他畸形。TSC是由TSC1或TSC2基因的突变引起的，从而导致雷帕霉素（mTOR）信号转导途径的机械靶标活化。TSC的研究揭示了mTOR途径在神经发育中的关键作用。此更新审查了TSC的遗传基础，其主要表型CNS特征以及TSC和其他mTOR改变的疾病领域的最新发展。