Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.
Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.
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DOI：
10.3389/fncel.2017.00101
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发表时间：
2017
影响因子：
5.3
通讯作者：
Meola G
中科院分区：
文献类型：
--
作者：
Gourdon G;Meola G
强直性肌营养不良是一种多系统疾病，其特征不仅在于肌肉和心脏功能障碍，而且还在于中枢神经系统的改变。现在，它们被认为是影响新生儿和儿童1型肌强直性营养不良以及成人1型和2型肌强直性营养不良的脑部疾病。在过去的二十年中，在理解DM症状的潜在机制方面取得了很大进展，从而允许开发新的分子治疗工具，最终目的是治愈该疾病。本文综述了中枢神经系统相关症状的表征，靶向中枢神经系统的分子策略的发展以及筛选和测试新的可能治疗方法的可用工具的最新技术水平。
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM symptoms allowing development of new molecular therapeutic tools with the ultimate aim of curing the disease. This review describes the state of the art for the characterization of CNS related symptoms, the development of molecular strategies to target the CNS as well as the available tools for screening and testing new possible treatments.