Shprecher David R, Schrock Lauren, Himle Michael
aDepartment of Neurology bDepartment of Psychology, University of Utah, Salt Lake City, Utah, USA.
Curr Opin Neurol. 2014 Aug;27(4):484-92. doi: 10.1097/WCO.0000000000000119.
This update summarizes progress in understanding Tourette syndrome clinical characteristics, etiology, and treatment over the past year.
Premonitory sensory phenomena were found to have important impacts on Tourette syndrome quality of life. A rare genetic form of Tourette syndrome due to L-histidine-decarboxylase mutation, with similar features in human and rodent, has inspired new research on functional anatomy of Tourette syndrome. In response to new data, treatment guidelines have been revised to include behavioral therapy as first-line treatment. Novel dopamine receptor antagonists aripiprazole and ecopipam have shown potential efficacy - as well as tolerability concerns. Recent work has suggested efficacy and tolerability of topiramate and fluphenazine, but more rigorous studies are needed to further understand their role in Tourette syndrome management. Recent consensus guidelines explain when deep brain stimulation can be considered for severe refractory cases under a multidisciplinary team.
More research is needed to identify better tolerated treatments for, to understand pathophysiology or functional anatomy of, and to predict or influence longitudinal outcome of Tourette syndrome.
本综述总结了过去一年在理解抽动秽语综合征临床特征、病因及治疗方面的进展。
预感感觉现象被发现对抽动秽语综合征的生活质量有重要影响。一种由L-组氨酸脱羧酶突变引起的罕见遗传性抽动秽语综合征，在人类和啮齿动物中具有相似特征，激发了对抽动秽语综合征功能解剖学的新研究。根据新数据，治疗指南已修订，将行为疗法纳入一线治疗。新型多巴胺受体拮抗剂阿立哌唑和依考必利已显示出潜在疗效，但也存在耐受性问题。近期研究表明托吡酯和氟奋乃静有效且耐受性良好，但需要更严格的研究来进一步了解它们在抽动秽语综合征治疗中的作用。近期的共识指南解释了在多学科团队下，何时可考虑对严重难治性病例进行脑深部刺激。
需要更多研究来确定耐受性更好的治疗方法，理解抽动秽语综合征的病理生理学或功能解剖学，并预测或影响其纵向预后。
