Putting the Pieces Together in Gilles de la Tourette Syndrome: Exploring the Link Between Clinical Observations and the Biological Basis of Dysfunction.
Putting the Pieces Together in Gilles de la Tourette Syndrome: Exploring the Link Between Clinical Observations and the Biological Basis of Dysfunction.
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DOI：
10.1007/s10548-016-0525-z
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发表时间：
2017-01
期刊：
影响因子：
2.7
通讯作者：
Visser-Vandewalle, Veerle
中科院分区：
文献类型：
--
作者：
Hashemiyoon, Rowshanak;Kuhn, Jens;Visser-Vandewalle, Veerle
关键词：
图雷特综合征是一种复杂的特发性神经精神疾病，其病理生理机制尚未阐明。它在表型上是异质性的，通常表现为运动和行为障碍，尽管抽搐是其临床标志。抽搐本身表现出复杂的特征，因为它们的特点是起起落落，通常在抽搐之前有先兆的躯体感觉，据说抽搐是对这种感觉的反应。它与强迫症和注意力缺陷多动障碍高度共病，据称是一种具有复杂遗传特征的表观遗传、神经发育谱系障碍。它在儿童时期发病，在男性中发生的比例不成比例，在大多数患者中，到成年时症状会自发减轻。虽然尚未完全了解，但其神经生物学基础与皮质-基底神经节-丘脑-皮质网络功能障碍有关。抽动秽语综合征的治疗方式包括行为、药物和手术干预，但目前还没有治愈这种疾病的方法。对于那些受到严重影响的人来说，脑深部电刺激（DBS）最近已成为一种可行的治疗选择。从这种手术中获得最佳结果的一个关键因素是目标选择，由于GTS患者呈现的复杂临床特征，这一主题仍在争论中。根据其表型表达和个体疾病最具问题的方面，三个大脑区域中的一个最常被选择进行刺激：丘脑、苍白球或伏隔核。临床DBS研究的手术中和术后人类电生理记录的神经生理学分析表明，抽动行为与丘脑和苍白球的活动之间存在联系。特别是，来自丘脑的慢性记录显示了症状学与(1)伽马波段功率的频谱活动和(2)θ / γ交叉频率相干性之间的相关性。这些结果表明，伽马振荡和θ / γ交叉相关动力学可能作为功能障碍的生物标志物。虽然从接受DBS的人类受试者的急性和慢性记录中可以更好地了解抽动发生和图雷特综合征的神经病理生理机制，但这些研究仍然很少，该领域将从进一步的研究中获益。这篇综述报告了各种方法的科学和临床相关的数据和发现，并提供了我们目前对图雷特综合征病理机制的理解的最新信息。它给出了知识的当前状态的全面概述，并解决了该领域的开放性问题。
Gilles de la Tourette syndrome is a complex, idiopathic neuropsychiatric disorder whose pathophysiological mechanisms have yet to be elucidated. It is phenotypically heterogeneous and manifests more often than not with both motor and behavioral impairment, although tics are its clinical hallmark. Tics themselves present with a complex profile as they characteristically wax and wane and are often preceded by premonitory somatosensory sensations to which it is said a tic is the response. Highly comorbid with obsessive–compulsive disorder and attention deficit-hyperactivity disorder, it is purported to be an epigenetic, neurodevelopmental spectrum disorder with a complex genetic profile. It has a childhood onset, occurs disproportionately in males, and shows spontaneous symptomatic attenuation by adulthood in the majority of those afflicted. Although not fully understood, its neurobiological basis is linked to dysfunction in the cortico-basal ganglia–thalamo–cortical network. Treatment modalities for Tourette syndrome include behavioral, pharmacological and surgical interventions, but there is presently no cure for the disorder. For those severely affected, deep brain stimulation (DBS) has recently become a viable therapeutic option. A key factor to attaining optimal results from this surgery is target selection, a topic still under debate due to the complex clinical profile presented by GTS patients. Depending on its phenotypic expression and the most problematic aspect of the disorder for the individual, one of three brain regions is most commonly chosen for stimulation: the thalamus, globus pallidus, or nucleus accumbens. Neurophysiological analyses of intra- and post-operative human electrophysiological recordings from clinical DBS studies suggest a link between tic behavior and activity in both the thalamus and globus pallidus. In particular, chronic recordings from the thalamus have shown a correlation between symptomatology and (1) spectral activity in gamma band power and (2) theta/gamma cross frequency coherence. These results suggest gamma oscillations and theta/gamma cross correlation dynamics may serve as biomarkers for dysfunction. While acute and chronic recordings from human subjects undergoing DBS have provided better insight into tic genesis and the neuropathophysiological mechanisms underlying Tourette syndrome, these studies are still sparse and the field would greatly benefit from further investigations. This review reports data and discoveries of scientific and clinical relevance from a wide variety of methods and provides up-to-date information about our current understanding of the pathomechanisms underlying Tourette syndrome. It gives a comprehensive overview of the current state of knowledge and addresses open questions in the field.
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DOI：
10.1097/00004583-200005000-00009
发表时间：
2000-05-01
影响因子：
13.3
作者：
Coffey, BJ;Biederman, J;Kim, GS
通讯作者：
Kim, GS
DOI：
10.1093/brain/awq300
发表时间：
2010-12
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Draganski B;Martino D;Cavanna AE;Hutton C;Orth M;Robertson MM;Critchley HD;Frackowiak RS
通讯作者：
Frackowiak RS
影响因子：
6.9
作者：
Baron-Cohen, S;Scahill, VL;Robertson, MM
通讯作者：
Robertson, MM
影响因子：
2.9
作者：
Cui Y;Jin Z;Chen X;He Y;Liang X;Zheng Y
通讯作者：
Zheng Y
影响因子：
10.6
作者：
Aron, Adam R.
通讯作者：
Aron, Adam R.