Gilles de la Tourette: The man behind the syndrome

French neuropsychiatrist Georges Gilles de la Tourette first described in 1885 the “Maladie des Tics” which earned him eponymous fame. Both his colleagues at La Salpêtrière hospital in Paris and medical historians report that he was a highly intelligent, if irascible, character. The Gilles de la Tourette syndrome was only a very minor contribution of its author, at the time. Gilles de la Tourette's main and continued contributions were on hysteria and hypnotism. This article concentrates on his life and includes previously untranslated passages from authors of the time and, for the first time, a full English translation of his obituary written by Henry Meige.     

Gilles de la Tourette syndrome

The study of childhood movement disorders is still in an early stage. Tics and related disorders are recognized as one of the most common movement disorders. This contribution reviews the main clinical, epidemiological, pathophysiological, and treatment issues on tics and Gilles de la Tourette syndrome. Although these disorders are not life threatening, they may be psychologically or functionally disabling. Early diagnosis and special management permit the alleviation of symptoms. Received: 1 June 1998 Accepted: 27 June 1998     

Health‐related quality of life in patients with Gilles de la Tourette's syndrome

To investigate the health‐related quality of life (HrQoL) of adult patients with Gilles de la Tourette's syndrome (GTS) in Germany. HrQoL was evaluated in 200 adult patients with GTS (Mean age: 34.9 ± 11.8 years). Patients were recruited from three outpatient departments in Germany and completed a semi‐structured, self‐rating interview. HrQoL was measured using the EQ‐5D. Depression was assessed using the Beck's depression inventory (BDI) and clinical symptoms using the Yale Tourette syndrome symptom list (TSSL) and the Shapiro Tourette‐syndrome severity scale (STSSS). Multivariate regression analyses were performed to identify independent predictors of HrQoL. Patients with GTS proved to have a worse HrQoL than a sample from the general German population. The domains most affected were anxiety/depression (57.1%), followed by pain/discomfort (47.5%), usual activities (38.4%), mobility (14%), and self‐care (6.6%). The mean EQ‐5D visual analog scale (EQ‐VAS) was 65.4 ± 21.9. The patients had a mean BDI score of 12.3 ± 9.9, which was considerably worse compared to a healthy group who had a score of 6.45 ± 5.2. The mean STSSS value was 3.2 ± 1.1. In multivariate analyses, depressive symptoms contributed considerably, whereas the severity of symptoms as well as age only contributed minimally to HrQoL in the model (R² = 0.54). HrQoL is considerably reduced in adult patients with GTS. The main independent factors for determining HrQoL were depression, severity of symptoms, and age. Although, treatment of tics is important, co‐morbidities such as depression should be diagnosed and treated vigorously. © 2009 Movement Disorder Society     

抽动——秽语综合征56例脑电图分析

对５６例抽动—秽语综合征脑电图分析发现，脑电图异常率为５７．１％，以轻度、中度异常较多见（８４．４％），提示抽动—秽语综合征患儿可能有脑功能障碍。其脑电图改变特点主要为背景脑波慢波化，并有阵发性多量的中高幅θ活动或极高幅δ活动。有部分病人（８．９％）出现棘、尖波     

Coprolalia and copropraxia in patients with Gilles de la Tourette syndrome

Background and purposeInvoluntary expression of socially unacceptable words (coprolalia) or gestures (copropraxia) is the best-known symptom of Gilles de Tourette syndrome (GTS) that contributes to the social impairment. The aim of the study was to assess the prevalence, age at onset and co-occurring symptoms of coprophenomena.Materials and methodsOne hundred and sixty-eight consecutive subjects with GTS including 94 adults and 74 children and aged between 4 and 54 years (mean: 18.0 ± 8.3) were studied. Demographic and clinical data were obtained from medical history and neurological examination.ResultsCoprolalia or copropraxia appeared in 44 patients. Both coprophenomena were present in 9 patients. Coprolalia occurred in 25.0% (n = 42) and copropraxia in 6.5% (n = 11) of patients. Mean age at onset was 12.2 ± 5.7 years (range: 4–33) for coprolalia and 12.4 ± 4.9 years (range: 7–24) for copropraxia. Coprolalia started 4.4 ± 3.7 years (range: 0–16) after the onset of disease; copropraxia started 6.1 ± 4.0 years (range: 1–12) after the onset of the disease. Coprolalia began in adulthood in six patients only, and copropraxia in one person. In six patients, coprolalia appeared in the first year of the disease. Copropraxia was never seen in the first year of the disease. Coprophenomena were more frequent in patients with comorbid mental disorders, behavioral problems and severe tics. Three quarters of patients reported significant influence of coprophenomena on daily living.ConclusionsCoprophenomena affect one quarter of GTS patients, appear in the time when tics are most severe, and are positively associated with comorbidity and more severe form of disease. Coprophenomena may reflect more widespread dysfunction of brain in GTS.     

Données actuelles sur la physiopathologie du syndrome de Gilles de la Tourette

The pathological mechanism of Tourette's syndrome is still unclear. Recent electrophysiological, neuro-anatomical and neuro-imaging studies suggest an important role of basal ganglia in the pathogenesis of this disease. Several experiments performed in animals emphasize the functional importance of the compartmental organization of the striatum and raise the possibility that hyperactivation of striosomes is related to the occurrence of stereotypies. The arguments in favour of genetic or inflammatory aetiology are also discussed.     

Late components of the auditory evoked potentials in Gilles de la Tourette syndrome

Late components (N1, P2, N2, P3) of the event-related potential (ERP) elicited by simple auditory discrimination tasks were investigated in 6 patients with Gilles de la Tourette syndrome. The ERP's were registrated in the patients before and during drug treatment as well as in 16 healthy controls. It appeared that in Tourette syndrome the N2 and P2 waveforms (target response) at Cz and Pz were remarkably less well identifiable. The results did not reveal P3 abnormalities in the patients. However, the patients demonstrated definite changes in the N1 and P2 components as compared to the controls. The N1 amplitudes were decreased in the patients. During drug treatment the N1 amplitudes increased although they remained smaller than in the controls. It is concluded that Tourette patients have no abnormalities in early and late components, but that specifically the components between 90-280 ms are affected. These abnormalities may reflect specific attention deficits which often occur in Tourette syndrome.     

The prevalence and epidemiology of Gilles de la Tourette syndrome. Part 1: the epidemiological and prevalence studies

The prevalence and epidemiology of Gilles de la Tourette syndrome (GTS) are more complex than was once thought. Until fairly recently, GTS was thought to be a rare and, according to some, a psychogenically mediated disorder. Prevalence depends, at least in part, on the definition of GTS, the type of ascertainment, and epidemiological methods used. However, in dedicated specialist GTS clinics, the majority of patients were noted to have positive family histories of tics or GTS, and large, extended, multiply-affected GTS pedigrees indicated that many family members had undiagnosed tics or GTS: it was therefore realized that GTS was far from uncommon. Seven early epidemiological studies reported that GTS was uncommon or rare for a variety of reasons. More recently, however, two pilot studies and 12 large definitive studies in mainstream school and school-age youngsters in the community, using similar multistage methods, have documented remarkably consistent findings, demonstrating prevalence figures for GTS of between 0.4% and 3.8% for youngsters between the ages of 5 and 18 years. Of the 420 312 young people studied internationally, 3989 (0.949%) were diagnosed as having GTS. It is therefore suggested that a figure of 1% would be appropriate for the overall international GTS prevalence figure. There were however, “outliers” to the figure. For instance, GTS does seem to be substantially rarer in African-American people and has been reported only very rarely in sub-Saharan black African people. GTS is found in all other cultures, although to possibly differing degrees. In all cultures where GTS has been reported, the phenomenology is similar, highlighting the biological underpinnings of the disorder.     

Olanzapine in severe Gilles de la Tourette syndrome: a 52-week double-blind cross-over study vs. low-dose pimozide

We selected four patients with severe Gilles de la Tourette syndrome, high frequency of tics (two to ten per minute), vocalizations, and lack of comorbidity. These patients (aged 19–40 years) underwent a 52-week double-blind cross-over study with olanzapine (5 and 10 mg daily) vs. low-dose pimozide (2 and 4 mg daily). The reduction in rating scale scores for the syndrome was highly significant with 10 mg olanzapine vs. basal and vs. 2 mg pimozide, and was significant for 5 mg olanzapine vs. 4 mg pimozide. Only moderate sedation was reported by one patient during olanzapine treatment while three complained of minor motor side effects and sedation during pimozide treatment. At the end of the study all patients opted for olanzapine treatment. Received: 23 July 1999, Received in revised form: 30 November 1999, Accepted: 22 January 2000     

Treatment approaches in Gilles de la Tourette syndrome

The neurological disorder Gilles de la Tourette syndrome is most often treated with the receptor blocker haloperidol, which also produces multiple side-effects, including the risk for tardive dyskinesia. In placebo control double-blind studies, two other neuroleptic drugs, fluphenazine and trifluoperazine, were found to be as efficaceous as haloperidol, but with fewer side-effects. In other studies, clonidine was shown to be equally efficaceous with haloperidol, but did not produce adverse central nervous system side-effects. To treat the extrapyramidal side-effects accompanying the treatment of Tourette syndrome with neuroleptic agents, amantadine and benztropine were compared in a crossover study. It was demonstrated that amantadine is a superior agent in treating the side effects of haloperidol treatment in Tourette syndrome. The use of lithium was without significant action upon lessening the tics of Tourette syndrome.     

Quality of Life (QOL) of patients with Gilles de la Tourette's syndrome

OBJECTIVE: This is the first study to investigate the Quality of Life (QOL) of patients with Gilles de la Tourette's Syndrome (GTS). METHOD: One hundred and three out-patients with GTS completed a semi-structured interview and 90 of these completed questionnaires screening for depression, anxiety and obsessive-compulsive behaviour. QOL was measured with the SF-36 and the Quality of Life Assessment Schedule (QOLAS). RESULTS: Patients with GTS showed significantly worse QOL than a general population sample. They had better QOL than patients with intractable epilepsy as measured by the QOLAS, although the SF-36 showed significant differences on the subscales Role Limitation due to physical problems and Social Functioning only. Factors influencing QOL domains were employment status, tic severity, obsessive-compulsive behaviour, anxiety and depression. CONCLUSION: QOL is impaired in patients with GTS. Measurement of QOL could be used alongside conventional measurements to assess benefit of treatment. We recommend the QOLAS and SF-36 be used.     

Aripiprazole: A treatment for severe coprolalia in “refractory” Gilles de la Tourette syndrome

Coprolalia is one of the most distressing symptoms in Gilles de la Tourette syndrome. We report on a 28‐year‐old man with severe coprolalia at the forefront of symptoms, which had a dramatic impact on his social and professional life and that did not fluctuate for years. Moreover, he presented hypersensitivity to neuroleptics. The use of aripiprazole, as a last resort, induced a 75% of improvement of his symptoms with good tolerance. This suggests that aripiprazole constitutes a valuable therapeutic in coprolalia. Moreover, its biochemical class specificity makes it an alternative for patients hypersensitive to other classes of neuroleptics. © 2007 Movement Disorder Society     

Schizotypal personality traits in Gilles de la Tourette syndrome

OBJECTIVES: Gilles de la Tourette syndrome (GTS) is a chronic tic disorder associated with comorbid psychopathology, including obsessionality, affective instability and attention-deficit hyperactivity disorder. Evidence linking GTS with schizophrenia-like symptoms is limited and equivocal, despite a common putative substrate involving dopaminergic dysfunction within frontostriatal circuits. The aim of this study was to quantify the prevalence of schizotypal traits in GTS and to detail the relationship between schizotypy and comorbid psychopathology. MATERIALS AND METHODS: A total of 102 subjects with GTS were evaluated using the Schizotypal Personality Questionnaire and standardized neurological and psychiatric rating scales. The predictive interrelation between schizotypy, tic-related symptoms and psychiatric comorbidities was investigated using correlation and multiple regression analyses. RESULTS: In our clinical population, 15% of the subjects were diagnosed with the schizotypal personality disorder according to the DSM-IV criteria. The strongest predictors of schizotypy were obsessionality and anxiety ratings. The presence of multiple psychiatric comorbidities correlated positively with schizotypy scores. CONCLUSIONS: Schizotypal traits are relatively common in patients with GTS, and reflect the presence of comorbid psychopathology, related to the anxiety spectrum. In particular, our preliminary results are consistent with a shared neurochemical substrate for the mechanisms underpinning tic expression, obsessionality and specific schizotypal traits.     

Pathological laughter in Gilles de la Tourette syndrome: An unusual phonic tic

Patients with Gilles de la Tourette syndrome (GTS) can display socially inappropriate behaviors as part of their multiform tic phenomenology. Pathological laughter (PL), defined as the presence of episodic and contextually inappropriate outbursts of laughter, has been detailed as a symptom of various psychiatric and neurological conditions. We present a case series of eight subjects diagnosed with GTS who reported PL as part of their tic repertoire. All subjects experienced PL as a simple phonic tic, accompanied by characteristic premonitory urges and significant impairment in social interactions. In addition, all patients presented with multiple tic‐related symptoms (mainly self‐injurious behaviors and echolalia, n = 7; palilalia, n = 6; coprolalia/mental coprolalia, n = 5), and six patients had comorbid conditions (in particular obsessive‐compulsive disorder/behaviors, n = 7; attention‐deficit hyperactivity disorder, n = 4). We suggest that the pathophysiological mechanisms underlying the expression of PL as a tic could involve a dissociation between frontostriatal and limbic networks. © 2010 Movement Disorder Society.     

脑深部电刺激治疗抽动秽语综合征10例疗效分析

目的 探讨脑深部电刺激术(DBS)治疗抽动秽语综合征(GTS)的安全性和有效性.方法 微电极记录双侧苍白球内侧部(Gpi)放电信号后,埋置DBS治疗GTS患者10例.采用耶鲁抽动严重程度综合量表(YRTSS)评估术后效果.随访时间2-24个月.结果 10例GTS患者症状较术前均有不同程度改善,改善率28.2%～80.0%.1例患者术后12个月埋植脉冲发生器部位皮肤破溃,脉冲发生器外露.拔除刺激器后3个月,症状改善稳定,没有恶化.另1例患者因活动时撞击胸部造成皮肤破溃,拔除脉冲发生器后,症状略有加重,但较术前仍有改善.后将脉冲发生器重置,症状改善,恢复早期术后状态.结论 通过对DBS治疗GTS患者安全性和有效性的评估,表明DBS是治疗难治性GTS的一种安全有效的术式.     

Gilles de la Tourette syndrome in Oriental children.

Seventy-four cases of tic syndromes were classified into four groups: chronic multiple tics, subacute multiple tics, chronic simple tics and transient simple tics, and 37 cases of chronic multiple tics (Tourette syndrome) were investigated. Clinical evaluation suggested that a transition existed between the four groups. Posture abnormalities were found in 27% of Tourette syndrome and a relation to dystonia was implied. Clinical evaluation and studies of catecholamine blockers' effectiveness suggested the validity of subtyping Tourette syndrome into four groups whose topographical or biochemical abnormalities differ. It was argued that the neurochemical basis of Tourette syndrome might lie in a multiplicity of biochemical abnormalities including disturbances of dopaminergic and noradrenergic pathways.     

Abnormal cortical and brain stem plasticity in Gilles de la Tourette syndrome

We investigated primary motor cortex and brain stem plasticity in patients with Gilles de la Tourette syndrome. The study group comprised 12 patients with Gilles de la Tourette syndrome and 24 healthy subjects. Patients were clinically evaluated using the Yale Global Tic Severity Scale. We tested cortical plasticity by conditioning left primary motor cortex with intermittent or continuous theta‐burst stimulation in 2 separate sessions. Test stimulation consisted of 20 motor‐evoked potentials recorded from right first interosseous muscle before and after theta‐burst stimulation. We also tested brain stem plasticity by conditioning the right supraorbital nerve with facilitatory electric high‐frequency stimulation delivered at the same time as the late response of the blink reflex or inhibitory high‐frequency stimulation delivered before the late response on 2 separate sessions. Test stimulation consisted of 10 blink reflexes from the right orbicularis oculi muscle before and after high‐frequency stimulation. After intermittent theta‐burst stimulation, motor‐evoked potential amplitudes in healthy subjects increased significantly but remained unchanged in patients. Similarly, after continuous theta‐burst stimulation, motor‐evoked potential amplitudes decreased significantly in healthy subjects but did not in patients. After facilitatory high‐frequency stimulation, the blink reflex late response area in healthy subjects increased, whereas after inhibitory high‐frequency stimulation, it decreased. Conversely, in patients, both interventions left the blink reflex late response area unchanged. The lack of the expected inhibitory and facilitatory changes in motor‐evoked potential amplitudes and blink reflex late response area suggests that abnormal plasticity in the primary motor cortex and brain stem play a role in the pathophysiology of Gilles de la Tourette syndrome. © 2011 Movement Disorder Society