结节性硬化症：旧貌换新颜。

Tuberous sclerosis complex: everything old is new again.

机构信息

Department of Neurology, Vanderbilt Kennedy Center for Research on Human Development, Tuberous Sclerosis Clinic, Vanderbilt Children's' Hospital, Vanderbilt University, 2201 West End Avenue, Nashville, TN, 37240, USA,

出版信息

J Neurodev Disord. 2009 Jun;1(2):141-9. doi: 10.1007/s11689-009-9014-y. Epub 2009 May 6.

DOI:10.1007/s11689-009-9014-y

PMID:21547713

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3164024/

Abstract

Tuberous Sclerosis Complex (TSC) is a multiorgan genetic disease caused by loss of function of either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes. Patients with TSC have benign tumors (hamartomas) in multiple organs though brain involvement is typically the most disabling aspect of the disease as very high rates of neurodevelopmental disorders are seen. While first described well over 120 years ago, recent advances have transformed TSC into a prototypical disorder that exemplifies the methods and potential of molecular medicine. This review will detail historical aspects of TSC and its strong associations with neurodevelopmental disorders focusing on epilepsy and autism. Finally, promising new approaches for the treatment of epilepsy and autism in patients with TSC as well as those in the general population will be discussed.

摘要

结节性硬化症（TSC）是一种多器官遗传性疾病，由 TSC1（编码错构瘤蛋白）或 TSC2（编码结节蛋白）基因功能丧失引起。TSC 患者的多个器官中存在良性肿瘤（错构瘤），尽管脑受累通常是疾病最致残的方面，因为神经发育障碍的发生率非常高。尽管早在 120 多年前就已首次描述，但最近的进展将 TSC 转化为一种典型的疾病，体现了分子医学的方法和潜力。本综述将详细介绍 TSC 的历史方面及其与神经发育障碍的强烈关联，重点关注癫痫和自闭症。最后，将讨论 TSC 患者以及一般人群中癫痫和自闭症治疗的有希望的新方法。