J. Crayton Pruitt Family Department of Biomedical Engineering, Gainesville, FL, USA.
UF Health Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA.
Curr Neurol Neurosci Rep. 2016 Apr;16(4):37. doi: 10.1007/s11910-016-0633-x.
Tourette syndrome (TS) is a childhood onset neurologic disorder with manifestations including multiple motor and phonic tics, and in most cases a variety of behavioral comorbidities such as attention deficit hyperactivity disorder, obsessive compulsive disorder, and other impulse control disorders. Although it is considered a hereditary disorder, likely modified by environmental factors, genetic studies have yet to uncover relevant causative genes and there is no animal model that mimics the broad clinical phenomenology of TS. There has been a marked increase in the number of neurophysiological, neuroimaging, and other studies on TS. The findings from these studies, however, have been difficult to interpret because of small sample sizes, variability of symptoms across patients, and comorbidities. Although anti-dopaminergic drugs are the most widely used medications in the treatment of TS, there has been increasing interest in other drugs, behavioral therapies, and surgical approaches including deep brain stimulation. Herein, we review the current literature and discuss the complexities of TS and the challenges in understanding its pathophysiology and in selecting the most appropriate treatment. We also offer an expert's view of where the field of TS may be headed.
妥瑞氏综合征（TS）是一种儿童期发病的神经系统疾病，其表现包括多种运动性和发声性抽搐，在大多数情况下还伴有多种行为共病，如注意缺陷多动障碍、强迫症和其他冲动控制障碍。尽管妥瑞氏综合征被认为是一种遗传性疾病，可能受环境因素的影响，但遗传研究尚未发现相关的致病基因，也没有能够模拟 TS 广泛临床表型的动物模型。目前已经有大量关于妥瑞氏综合征的神经生理学、神经影像学和其他研究。然而，由于样本量小、患者症状的变异性和共病等原因，这些研究的结果很难解释。尽管抗多巴胺能药物是治疗妥瑞氏综合征最广泛使用的药物，但人们对其他药物、行为疗法和手术方法（包括深部脑刺激）的兴趣日益增加。在此，我们综述了目前的文献，并讨论了妥瑞氏综合征的复杂性，以及在理解其病理生理学和选择最合适的治疗方法方面所面临的挑战。我们还提供了专家对妥瑞氏综合征领域未来发展方向的看法。
