Monfrini Edoardo, Saleh Christian, Servello Domenico, Jaszczuk Phillip, Porta Mauro
Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
University of Basel, 4001 Basel, Switzerland.
Int J Mol Sci. 2025 Sep 10;26(18):8831. doi: 10.3390/ijms26188831.
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and phonic tics, often including attention deficit, hyperactivity, and obsessive-compulsive behaviours. The pathophysiology involves the dysfunction of cortico-striato-thalamo-cortical circuits, primarily implicating dopaminergic hyperactivity, but also involving multiple different neurotransmitter systems. Treatment of GTS is complex, highly individualized, and influenced by considerable variability in symptom presentation. Behavioural approaches, such as Habit Reversal Therapy (HRT), play a key role, especially in milder cases. Pharmacological therapy is largely empirical and varies across countries, influenced by drug availability and the perceived risks of certain classes of drugs, particularly dopamine receptor blocking agents. Drug options for managing tics include dopamine receptor antagonists, monoamine depleting agents, and alpha-2 agonists, all of which require close monitoring for metabolic, cardiovascular, and neurological side effects. Botulinum toxin injections represent an effective solution for focal tics that are resistant to systemic treatments. Cannabinoids and antiepileptics have limited efficacy, yet they may still offer relevant therapeutic potential in selected cases. Serotonergic drugs are useful for treating obsessive-compulsive symptoms. For patients with refractory tics, deep brain stimulation (DBS) represents an intervention of last-resort; however, DBS remains off-label and consensus on optimal targets is lacking. This narrative review draws on both the relevant literature and extensive personal clinical experience to explore the complexities of managing GTS, with a focus on evidence-based treatments for tics and associated neuropsychiatric symptoms. A therapeutic algorithm is proposed, emphasizing a "start low, go slow" approach, combining pharmacological interventions with cognitive behavioural and surgical therapies, when needed. We underscore the importance of tailoring treatments to individual patient profiles and symptom variability over time, highlighting the need for further research in GTS management.
抽动秽语综合征(GTS)是一种神经发育障碍,其特征为运动性和发声性抽动,常伴有注意力缺陷、多动和强迫行为。其病理生理学涉及皮质-纹状体-丘脑-皮质回路功能障碍,主要与多巴胺能亢进有关,但也涉及多个不同的神经递质系统。GTS的治疗复杂、高度个体化,且受症状表现的显著变异性影响。行为疗法,如习惯逆转疗法(HRT),发挥着关键作用,尤其是在症状较轻的病例中。药物治疗很大程度上是经验性的,且因国家而异,受药物可及性以及某些类药物(特别是多巴胺受体阻滞剂)的感知风险影响。用于控制抽动的药物选择包括多巴胺受体拮抗剂、单胺耗竭剂和α-2激动剂,所有这些药物都需要密切监测代谢、心血管和神经方面的副作用。肉毒杆菌毒素注射是对全身治疗耐药的局灶性抽动的有效解决方案。大麻素和抗癫痫药物疗效有限,但在某些特定病例中仍可能具有相关治疗潜力。血清素能药物对治疗强迫症状有用。对于难治性抽动患者,深部脑刺激(DBS)是最后的干预手段;然而,DBS仍未获批用于该适应症,且在最佳靶点方面缺乏共识。本叙述性综述借鉴了相关文献和丰富的个人临床经验,以探讨GTS管理的复杂性,重点关注抽动及相关神经精神症状的循证治疗。提出了一种治疗算法,强调“低起始、慢推进”的方法,必要时将药物干预与认知行为和手术疗法相结合。我们强调根据个体患者情况和症状随时间的变异性调整治疗的重要性,突出了GTS管理方面进一步研究的必要性。