Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA; Department of Neurology, University of Florida, Gainesville, FL, USA.
Sorbonne University, ICM, Inserm, CNRS, Department of Neurophysiology, Hôpital Saint Antoine (DMU 6), AP-HP, Paris, France.
Lancet Neurol. 2023 Feb;22(2):147-158. doi: 10.1016/S1474-4422(22)00303-9. Epub 2022 Oct 28.
Tourette syndrome is a chronic neurodevelopmental disorder characterised by motor and phonic tics that can substantially diminish the quality of life of affected individuals. Evaluating and treating Tourette syndrome is complex, in part due to the heterogeneity of symptoms and comorbidities between individuals. The underlying pathophysiology of Tourette syndrome is not fully understood, but recent research in the past 5 years has brought new insights into the genetic variations and the alterations in neurophysiology and brain networks contributing to its pathogenesis. Treatment options for Tourette syndrome are expanding with novel pharmacological therapies and increased use of deep brain stimulation for patients with symptoms that are refractory to pharmacological or behavioural treatments. Potential predictors of patient responses to therapies for Tourette syndrome, such as specific networks modulated during deep brain stimulation, can guide clinical decisions. Multicentre data sharing initiatives have enabled several advances in our understanding of the genetics and pathophysiology of Tourette syndrome and will be crucial for future large-scale research and in refining effective treatments.
妥瑞氏综合征是一种慢性神经发育障碍,其特征为运动性和发音性抽搐,可显著降低患者的生活质量。妥瑞氏综合征的评估和治疗较为复杂,部分原因是其症状和个体共病的异质性。妥瑞氏综合征的潜在病理生理学尚未完全阐明,但过去 5 年来的最新研究为导致其发病机制的遗传变异以及神经生理学和大脑网络改变提供了新的认识。随着新型药物治疗方法的出现以及对药物或行为治疗反应不佳的患者深部脑刺激的使用增加,妥瑞氏综合征的治疗选择正在扩大。深部脑刺激过程中调节的特定网络等潜在的患者对治疗反应的预测因子,可以指导临床决策。多中心数据共享计划使我们能够在理解妥瑞氏综合征的遗传学和病理生理学方面取得了几项进展,对于未来的大规模研究和完善有效治疗方法至关重要。