Singer Harvey S
Continuum (Minneap Minn). 2019 Aug;25(4):936-958. doi: 10.1212/CON.0000000000000752.
The purpose of this article is to present current information on the phenomenology, epidemiology, comorbidities, and pathophysiology of tic disorders and discuss therapy options. It is hoped that a greater understanding of each of these components will provide clinicians with the necessary information to deliver thoughtful and optimal care to affected individuals.
Recent advances include the finding that Tourette syndrome is likely due to a combination of several different genes, both low-effect and larger-effect variants, plus environmental factors. Pathophysiologically, increasing evidence supports involvement of the cortical-basal ganglia-thalamocortical circuit; however, the primary location and neurotransmitter remain controversial. Behavioral therapy is first-line treatment, and pharmacotherapy is based on tic severity. Several newer therapeutic agents are under investigation (eg, valbenazine, deutetrabenazine, cannabinoids), and deep brain stimulation is a promising therapy.
Tics, defined as sudden, rapid, recurrent, nonrhythmic motor movements or vocalizations, are essential components of Tourette syndrome. Although some tics may be mild, others can cause significant psychosocial, physical, and functional difficulties that affect daily activities. In addition to tics, most affected individuals have coexisting neuropsychological difficulties (attention deficit hyperactivity disorder, obsessive-compulsive disorder, anxiety, mood disorder, disruptive behaviors, schizotypal traits, suicidal behavior, personality disorder, antisocial activities, and sleep disorders) that can further impact social and academic activities or employment.
本文旨在介绍抽动障碍的现象学、流行病学、共病情况及病理生理学的当前信息，并讨论治疗选择。希望对这些组成部分有更深入的了解，能为临床医生提供必要信息，以便为受影响个体提供周到且最佳的治疗。
最近的进展包括发现抽动秽语综合征可能是由几种不同基因（低效应和高效应变体）以及环境因素共同作用所致。在病理生理学方面，越来越多的证据支持皮质 - 基底神经节 - 丘脑皮质回路参与其中；然而，其主要部位和神经递质仍存在争议。行为疗法是一线治疗方法，药物治疗则基于抽动的严重程度。几种新型治疗药物正在研究中（如瓦尔贝那嗪、氘代丁苯那嗪、大麻素），深部脑刺激是一种有前景的治疗方法。
抽动被定义为突然、快速、反复出现的非节律性运动动作或发声，是抽动秽语综合征的重要组成部分。尽管有些抽动可能较轻，但其他抽动可能会导致严重的心理社会、身体和功能障碍，影响日常活动。除了抽动外，大多数受影响个体还存在并存的神经心理困难（注意力缺陷多动障碍、强迫症、焦虑症、情绪障碍、破坏性行为、分裂型特质、自杀行为、人格障碍、反社会活动和睡眠障碍），这些会进一步影响社交、学业活动或就业。
