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White matter alterations in Williams syndrome related to behavioral and motor impairments.
Glia ( IF 6.2 ) Pub Date : 2020-06-26 , DOI: 10.1002/glia.23868
Ariel Nir 1 , Boaz Barak 1, 2
Affiliation  

Myelin is the electrical insulator surrounding the neuronal axon that makes up the white matter (WM) of the brain. It helps increase axonal conduction velocity (CV) by inducing saltatory conduction. Damage to the myelin sheath and WM is associated with many neurological and psychiatric disorders. Decreasing myelin deficits, and thus improving axonal conduction, has the potential to serve as a therapeutic mechanism for reducing the severity of some of these disorders. Myelin deficits have been previously linked to abnormalities in social behavior, suggesting an interplay between brain connectivity and sociability. This review focuses on Williams syndrome (WS), a genetic disorder characterized by neurocognitive characteristics and motor abnormalities, mainly known for its hypersociability characteristic. We discuss fundamental aspects of WM in WS and how its alterations can affect motor abilities and social behavior. Overall, findings regarding changes in myelin genes and alterations in WM structure in WS suggest new targets for drug therapy aimed at improving conduction properties and altering brain‐activity synchronization in this disorder.

中文翻译:

威廉姆斯综合征的白质改变与行为和运动障碍有关。

髓磷脂是构成大脑白质 (WM) 的神经元轴突周围的电绝缘体。它通过诱导跳跃传导来帮助增加轴突传导速度(CV)。髓鞘和 WM 的损伤与许多神经和精神疾病有关。减少髓磷脂缺陷,从而改善轴突传导,有可能成为降低某些疾病严重程度的治疗机制。髓磷脂缺陷以前与社交行为异常有关,这表明大脑连通性和社交能力之间存在相互作用。这篇综述重点关注威廉姆斯综合征 (WS),这是一种以神经认知特征和运动异常为特征的遗传性疾病,主要以其超社交特征而闻名。我们讨论了 WM 在 WS 中的基本方面以及它的改变如何影响运动能力和社会行为。总体而言,关于 WS 中髓鞘基因变化和 WM 结构改变的研究结果表明了药物治疗的新靶点,旨在改善这种疾病的传导特性和改变大脑活动的同步性。
更新日期:2020-06-26
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