药物难治性抽动秽语综合征的立体定向手术治疗

目的 总结立体定向一侧丘脑腹外侧核(VL)/板中间核(Ud)加ZI区毁损联合双侧扣带回前部(AC)毁损治疗药物难治性抽动秽语综合征(TS)的经验.方法 回顾性分析36例TS的临床资料,术前均行脑电图、脑影像学、脑PET等检查,抽动情况以耶鲁抽动量表(YGTSS)评价,强迫观念程度以耶鲁-布朗强迫量表(YBOCS)评价....     

难治性抽动秽语综合症的立体定向手术治疗

目的 探讨脑内多靶点毁损术对伴有严重行为障碍的难治性抽动秽语综合症的疗效.方法 对11例严重行为障碍的抽动-秽语综合症患者行CT和微电极导向下单侧或者双侧苍白球腹后部毁损术 双侧内囊前肢、隔区毁损术.在手术前、术后2周、6个月、1年分别应用耶鲁综合抽动严重程度量表(Yale global tic severity scale, YGTSS)进行评分,同时观察术后患者行为障碍的改善情况.结果 术后4例患者抽动症状消失,7例患者的抽动症状明显改善;手术后YGTSS评分较术前明显减少,减分率达77%左右;手术对患者的行为障碍改善明显,术后一年仅3例患者遗留轻度行为障碍.结论 单侧或者双侧苍白球腹后部毁损术 双侧内囊前肢、隔区毁损术对伴有严重行为障碍的难治性抽动秽语综合症患者具有良好的治疗效果.     

双侧内囊前肢和扣带回毁损术治疗难治性强迫症(附34例临床分析)

目的 探讨双侧内囊前肢和双侧扣带回毁损术治疗难治性强迫症的临床疗效.方法 对34例难治性强迫症患者,采用立体定向双侧内囊前肢与扣带回前部毁损术,并分别在术前与术后2周、6个月、1年、2年由精神科医师进行YBOCS、HAMA、HAMD量表评定以及术后疗效评定.5例患者在术后6个月因疗效不佳而接受二次手术.结果 难治性强迫症患者术后各期YBOCS、HAMA、HAMD评分与术前比较均明显下降.术后6个月的总有效率(70.6%)明显低于术后2周的总有效率(94.1%),但术后1年、2年的总有效率与术后6个月的总有效率比较无明显差异.结论 立体定向双侧内囊前肢与双侧扣带回前部毁损术对难治性强迫症患者疗效显著,并可保持较好的远期疗效.     

脑深部电刺激治疗药物难治性抽动秽语综合征的疗效观察

目的探讨脑深部电刺激(DBS)治疗药物难治性抽动秽语综合征(TS)的临床疗效, 初步观察以苍白球内侧部(GPi)与以中央中核-束旁核复合体(CM-Pf)为靶点的DBS在改善抽动症状方面的差异。方法回顾性分析2006年10月至2023年1月于首都医科大学附属北京天坛医院神经外科学中心接受DBS治疗且随访时间≥12个月的40例TS患者的临床资料。其中33例为GPi-DBS组, 7例为CM-Pf-DBS组。随访术后6、12个月患者临床症状的改善情况。临床症状的主要评估指标为耶鲁综合抽动严重程度量表(YGTSS)评分, 次要评估指标为贝克抑郁量表(BDI)、汉密尔顿抑郁量表(HRDS)、医院焦虑和抑郁量表(HADS)、耶鲁布朗强迫症严重程度量表(YBOSC)评分。对比分析两组YGTSS评分的改善情况。结果 40例患者术前, 术后6、12个月的YGTSS评分分别为(63.6±14.2)分、(42.0±15.0)分、(36.1±16.9)分, 差异有统计学意义(P<0.001);术后6、12个月YGTSS评分的改善率分别为(33.7±19.0)%、(43.1±23.3)%。BDI(24例)、...     

视频抽动量表在脑深部电刺激术治疗抽动秽语综合征中的应用

目的 探讨视频抽动量表在脑深部电刺激术(deep Brain Stimulation,DBS)治疗抽动秽语综合征(Tourette syndrome,TS)效果评估中的应用价值.方法 7例成人,TS患者行双侧苍白球腹后内侧部(Globus Pallidus interna,Gpi)DBS术,分别于术前,术后应用耶鲁综合抽动严重程度评分量表(Yale Global Tic SeverityScale,YGTSS)及视频抽动量表进行症状评估.结果 患者随访时间1～23月.YGTSS评估症状改善16.67%～62.96%(平均51.47%±17.71%),视频抽动量表评估症状改善13.33%～66.67%(平均42.64%±17.53%),对视频抽动量表及YGTSS评估改善率结果行配对t经验,P=0.056>0.05.结论 视频抽动量表对TS症状评估与YGTSS接近,可作为评估TS症状的辅助方法.     

立体定向脑内核团毁损治疗抽动-秽语综合征

目的:探讨立体定向技术和脑内核团毁损对抽动-秽语综合征的治疗意义。方法:18例抽动-秽语综合征术前经过系统的精神药物及心理行为治疗,仍不能控制症状的内科治疗困难的患者。应用MRI在立体定向的基础上,选择性射频热凝苍白球、杏仁核、扣带回、内囊前肢靶点。并在术前、术后应用耶鲁综合抽动严重程度量表(YGTSS)、韦氏成人智力量表(WAIS)进行评分。结果:手术后YGTSS的运动抽动评分、发声抽动评分较术前明显减少(P<0·01);手术前后WAIS智力量表评分无明显变化。无严重并发症和后遗症。结论:立体定向核团射频热凝治疗内科治疗困难的抽动-秽语综合征是安全有效的方法之一。     

立体定向手术治疗难治性抽动-秽语综合征

目的　外科手术治疗难治性抽动 秽语综合征 ,至今仍处于尝试性治疗阶段。实施单侧苍白球腹后部毁损术 ,观察PVP手术对治疗难治性抽动 秽语综合征的疗效和安全性。方法　我科从 1999年 8月至 2 0 0 2年 12月期间 ,共收治 14例抽动 -秽语综合征患者 ,平均年龄 2 0 .3岁 ,平均病程 11.9年。术前经过系统的精神科药物及心理行为治疗 ,仍不能控制症状 ,均为难治性。所有患者均在MRI和微电极导向下行立体定向苍白球射频毁损术。在手术前、术后 1周、术后 6个月应用耶鲁综合抽动严重程度量表 (Yaleglobalticseverityscale ,YGTSS)进行评分。结果　手术后YGTSS的运动抽动评分、发声抽动评分以及总的严重程度均较术前明显减少 ,具有统计学意义(P <0 .0 1)。结论　苍白球切开术是治疗难治性抽动 秽语综合征安全有效的治疗方法之一 ,其远期疗效有待进一步观察     

脑深部电刺激术治疗成人抽动秽语综合征长期疗效观察

目的 研究苍白球腹后内侧部(Gpi)脑深部电刺激术(DBS)治疗成人抽动秽语综合征(TS)的长期疗效. 方法 首都医科大学宣武医院功能神经外科自2007年5月至2008年5月应用Gpi DBS治疗5例药物难治性TS患者,分别于术前,术后3月、6月、1年及1年以上应用耶鲁综合抽动严重程度评分量表(YGTSS)进行症状评估. 结果 患者随访时间21～33月.与术前比较,患者最后随访时运动、发声、总体损害程度、YGTSS评分均降低,差异有统计学意义(P＜0.05)；与术前、术后3月比较,患者其余各个时间点YGTSS评分均降低,差异有统计学意义(P＜0.05).所有患者症状逐渐改善,前6月症状改善明显,6月后基本平稳,仍会有轻度改善.术后3月、6月、1年、1年以上YGTSS评分的最终改善率分别为28.5％、52.35％、57.62％、62.88％.最后随访时YGTSS评分中运动抽动改善率为51.38％,发声抽动改善率为46.16％,总体损害程度改善率为71％.没有严重并发症. 结论 Gpi DBS是一种治疗成人药物难治性TS安全有效的方法,能够全面缓解TS运动抽动、发声抽动及总体损害,长期效果稳定.     

双侧苍白球腹后部毁损术治疗帕金森病5年随访研究

目的评价双侧苍白球腹后部毁损术(PVP)治疗帕金森病的长期疗效与并发症。方法回顾性分析13例接受双侧PVP的帕金森病病人的临床资料,采用统一帕金森病评定量表(UPDRS),在术前、术后1周和5年,对每例帕金森病病人分别进行开、关两种状态的评分,并进行统计学分析。结果 13例病人术前开状态下UPDRS总分为(44.9±19.5)分,术后1周为(28.6±24.4)分显著低于术前(P<0.05),术后5年为(78.9±32.3)分显著高于术前(P<0.01);关状态下术前UPDRS总分为(95.5±23.4)分,术后1周为(41.6±25.6)分显著低于术前(P<0.01),术后5年为(96.6±28.2)分与术前无差别。震颤评分在开状态下术后1周显著低于术前(P<0.05),而术后5年与术前无明显差别;在关状态下术后1周和5年分值均显著低于术前(均P<0.01)。语言、吞咽和平衡功能的评分术前在开状态时基本正常,术后5年的评分显著高于术前(P<0.05,P<0.05,P<0.01)。结论双侧PVP治疗帕金森病的长期疗效不理想,术后5年基本保持对震颤的改善,但其他症状较术前恶化,尤其是语言、吞咽和平衡功能明显恶化...     

感觉性抽动的立体定向苍白球射频毁损术

目的研究分析22例Tourette综合征（TS）的感觉性抽动特点及实施单侧苍白球腹后部毁损术的治疗作用。方法对22例经过系统的精神科药物及心理行为治疗失败的TS患者实施立体定向苍白球射频毁损术,应用YGTSS评分量表和感觉性先兆问卷对运动性抽动和感觉性抽动进行评估。结果22例患者中18例（81.8%）有各种类型的感觉性抽动,位于头/面部者最多（72.2%）,术后感觉性抽动发作频率较术前均有所下降,YGTSS各项评分均显著下降（P〈0.01）,其中运动抽动的改善率最高。结论感觉性抽动是TS的常见症状,单侧苍白球腹后部毁损术能全面减轻TS各种症状,但远期疗效有待进一步观察。     

A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.

Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the craniocervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.     

Tourettism and dystonia after subcortical stroke.

The term "tourettism" has been used to describe Tourette syndrome (TS)-like symptoms secondary to some specific cause. Tics associated with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or both, are commonly present in TS, but this constellation of symptoms has been rarely attributed to stroke. We describe two boys who suffered a subcortical stroke and subsequently developed hemidystonia, tics, and behavioral comorbidities. Both had right hemispheric stroke involving the basal ganglia at 8 years of age, and in both the latency from the stroke to the onset of left hemidystonia was 2 weeks. In addition to ADHD and OCD, both exhibited cranial-cervical motor tics but no phonic tics. The temporal relationship between the stroke and subsequent TS-like symptoms, as well as the absence of phonic tics and family history of TS symptoms in our patients, argues in favor of a cause and effect relationship, and the observed association provides evidence for an anatomic substrate for TS and related symptoms.     

Treatment of Tourette Syndrome

Tourette’s syndrome (TS) consists of chronic motor and phonic tics and characteristically begins in childhood. The tics can be disabling and commonly associated behavioral comorbities such as attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), can also cause problems in daily functioning. The underlying etiology and neurobiology of TS remain unknown although genetic factors appear to be important, cortical control of basal ganglia motor function appears to be disturbed and neurochemical abnormalities, particularly involving dopamine neurotransmission, are likely present. The treatment of TS involves appropriate education and support. Tics can be treated with habit reversal cognitive behavioral therapy, medications (most commonly alpha agonists and antipsychotics), local intramuscular injections of botulinum toxin and some severe, refractory cases have responded to deep brain stimulation surgery (DBS). It is important to appropriately diagnose and treat comorbid behavioral disorders that are disrupting function. OCD can be treated with cognitive behavioral therapy, selective serotonin reuptake inhibitors, and atypical antipsychotics. DBS has become a treatment option for patients with disabling OCD despite other therapies. ADHD is treated with appropriate classroom accommodations, behavioral therapy, alpha agonists, atomoxetine or methylphenidate-containing stimulant drugs.     

Tics and its disorders

Tourette syndrome (TS) is familial neuropsychiatric disorder that is characterized by motor and phonic tics that begin in childhood. Once thought of as a rare and debilitating disorder, in the last decade new scientific knowledge suggests that TS and related tic disorders are more common and less debilitating for the majority of individuals. Evidence points toward a spectrum of TS symptomatology that extends beyond the tics disorder to probably include obsessive-compulsive disorder, attention deficit hyperactivity disorder, and mood disorders. Tourette syndrome and its differential diagnosis are discussed in this article with a focus on new developments in classification, etiology, epidemiology, genetics, pathophysiology, and clinical management.     

Syndrome de Gilles de la Tourette : défis de la recherche pour améliorer la pratique clinique

Tourette syndrome is a neurodevelopmental disorder which is characterized by the presence of motor and phonic tics. These tics are generally more prevalent in childhood. Tics typically reach their maximum severity before puberty, around age 10 to 12. In most patients, tic severity usually decreases during late adolescence and adulthood. However, this is not true for all individuals. To date, the developmental trajectory leading to the persistence of tics into adulthood is still poorly understood. There are very few markers that can predict the evolution of tic symptoms from childhood to adulthood. Yet, while we cannot cure Tourette syndrome, it is possible to reduce tic severity with various treatments. The most common treatments are pharmacotherapy and behavioral and cognitive-behavioral therapy. However, there appears to be a limit to the proportion of tics that can be treated, since most treatments offer an average reduction in tics of no more than 50%. Thus, at first, this article reviews recent advances in treatment and symptom progression. Next, we propose some lines of research to improve the management and treatment of people with Tourette syndrome.     

Tourette syndrome: the self under siege

Tourette syndrome is a neurodevelopmental disorder characterized by motor and vocal tics--rapid, repetitive, stereotyped movements or vocalizations. Tourette syndrome typically has a prepubertal onset, and boys are more commonly affected than girls. Symptoms usually begin with transient bouts of simple motor tics. By age 10 years, most children are aware of nearly irresistible somatosensory urges that precede the tics. These urges likely reflect a defect in sensorimotor gating because they intrude into the child's conscious awareness and become a source of distraction and distress. A momentary sense of relief typically follows the completion of a tic. Over the course of hours, tics occur in bouts, with a regular intertic interval. Tics increase during periods of emotional excitement and fatigue. Tics can become "complex" in nature and appear to be purposeful. Tics can be willfully suppressed for brief intervals and can be evoked by the mere mention of them. Tics typically diminish during periods of goal-directed behavior, especially those that involve both heightened attention and fine motor or vocal control, as occur in musical and athletic performances. Over the course of months, tics wax and wane. New tics appear, often in response to new sources of somatosensory irritation, such as the appearance of a persistent vocal tic (a cough) following a cold. Over the course of years, tic severity typically peaks between 8 and 12 years of age. By the end of the second decade of life, many individuals are virtually tic free. Less than 20% of cases continue to experience clinically impairing tics as adults. Tics rarely occur in isolation, and other coexisting conditions--such as behavioral disinhibition, hypersensitivity to a broad range of sensory stimuli, problems with visual motor integration, procedural learning difficulties, attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder, depression, anxiety, and emotional instability--are often a greater source of impairment than the tics themselves. Emerging behavioral treatments of Tourette syndrome are based in part on an understanding of the moment-to-moment experience of somatosensory urges and motor response. With identification of specific genes of major effect and advances in our understanding of the neural circuitry of sensorimotor gating, habit formation, and procedural memory--together with insights from postmortem brain studies, in vivo brain imaging, and electrophysiologic recordings--we might be on the threshold of a deeper understanding of the phenomenology and natural history of Tourette syndrome.     

Advances in understanding and treatment of Tourette syndrome

Tourette syndrome is a hereditary, childhood-onset neurodevelopmental disorder that was first clearly described in France in 1885. This disorder is characterized by sudden, rapid, recurrent, nonrhythmic movements (motor tics) or sounds (vocal or phonic tics), often preceded by premonitory sensations or urges. Some individuals also have psychiatric comorbidities, notably attention-deficit hyperactivity disorder or obsessive-compulsive disorder. Tourette syndrome occurs worldwide, in all races and ethnicities, in both sexes and in children as well as in adults. Estimates of its prevalence in children vary, with rates of up to 1% being reported, but rates of 0.3-0.8% are thought to accurately reflect the occurrence of the disorder. Research has led to progress in many aspects of Tourette syndrome, although many questions and unmet needs remain. For example, except for rare cases, the genetic basis remains elusive. The anatomical and neuronal changes in the brain that underlie Tourette syndrome are also unclear, although the evidence increasingly implicates alterations in basal ganglia function. Treatment is often unnecessary for individuals with mild tics, but for those with moderate to severe forms of the syndrome, some drugs are available, albeit frequently ineffective. Behavioral and surgical therapies, in particular deep brain stimulation, are currently undergoing development and show promising results. This Review examines the history of Tourette syndrome and describes its clinical presentation. The article also provides an overview of the epidemiology and pathophysiology of this disorder. Current treatment strategies and potential future therapies are also discussed.     

Adult onset tics after peripheral injury

We describe a case with adult onset motor tics after peripheral trauma. A 43-year-old man suffered a left shoulder dislocation during a motorcycle accident 21 years ago. Within 2 weeks after the injury, he noticed the gradual onset of involuntary jerking movements of his left shoulder, which was markedly exacerbated after second left shoulder injury 2 years later. The involuntary movements are phenomenologically identical to tics typically associated with Tourette syndrome (TS), but without the involvement of any other body part and without phonic tics or the typical TS co-morbidities, such as attention deficit or obsessive-compulsive disorder.     

Complex phonic tic and disinhibition in Tourette syndrome: case report

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by a combination of multiple motor tics and at least one phonic tic. TS patients often have associated behavioral abnormalities such as obsessive compulsive disorder, attention deficit and hyperactive disorder. Coprolalia, defined as emission of obscenities or swearing, is one type of complex vocal tic, present in 8% to 26% of patients. The pathophysiology of coprolalia and other complex phonic tics remains ill-defined. We report a patient whose complex phonic tic was characterized by repetitively saying "breast cancer" on seeing the son of aunt who suffered from this condition. The patient was unable to suppress the tic and did not meet criteria for obsessive compulsive disorder. The phenomenology herein described supports the theory that complex phonic tics result from disinhibition of the loop connecting the basal ganglia with the limbic cortex.     

Advantages of a modified scoring method for the Rush Video-Based Tic Rating Scale.

Previously, we published a video-based objective rating scale of tics that met reliability and validity criteria for measurement of five domains of tic disability. In the original form, the scale's metric properties did not permit internal comparison of each of the five domains of impairment and did not provide a total score for use as a primary outcome measure. In this study, we retained the original scale and videotape protocol but tested whether a modified scoring system corrected these limitations. The new scoring method rated assigned tic data to ratings of 0-4 on five disability categories: number of body areas, frequency of motor tics, frequency of phonic tics, severity of motor tics, and severity of phonic tics. The sums of these ratings yielded a total score of overall tic disability (0-20). In a series of 31 patients with Gilles de la Tourette syndrome, we assessed Spearman correlation coefficients for the old and new scoring systems as well as the correlation of the new ratings with the objectively derived sections of the Yale Global Tic Severity Scale (YGTSS), another valid and reliable scale used in clinical practice and research. For each domain, the rank order for the scores on the original scale was well retained in the new scores. Likewise, for each domain, ranking with the new scoring system correlated well with scores on the comparable objective item from the YGTSS. The new total score accurately captured the rank order of the combined five domains from the original scale and correlated well with the total objective motor plus phonic tic score from the YGTSS and the YGTSS Tourette Syndrome Overall Impairment Rating. These data demonstrate that the modified videotape-based scoring system retains the essential information gathered in the original Rush scale. The modification provides comparisons among the five assessed domains and a total objectively based disability score that can be used as a single outcome measure for assessing tic disability.