Psychogenic palatal tremor.

Recent criteria for the classification of palatal tremor use clinical, imaging, and electrophysiological features to differentiate essential and symptomatic forms. A case of probable psychogenic palatal tremor (PPT) is described within the context of these criteria, which lack clear guidelines for diagnosing PPT. The heterogenous nature of essential palatal tremor and its relationship with PPT, voluntary palatal movements, and tics is discussed.     

Ciprofloxacin-induced palatal tremor.

We describe an 84-year-old man with an unusual clinical presentation of palatal tremor in association with ciprofloxacin treatment. The patient had rhythmical movements not only of the soft palate but also of the face and trunk. Complete resolution of the symptoms occurred 2 days after discontinuation of ciprofloxacin and administration of sodium valproate. This is the first reported case of palatal tremor secondary to the use of ciprofloxacin.     

Botulinum toxin is effective and safe for palatal tremor

Palatal tremor (formerly palatal myoclonus) is an extremely rare, but potentially treatable cause, of objective tinnitus. The tinnitus is thought to be secondary to rhythmic involuntary movements of the soft palate. Its aetiology is variable and it remains difficult to treat. Many different medical and surgical remedies have been tried but none have demonstrated reproducible success. Botulinum toxin has been used in sporadic cases and seems to produce good results. Ten patients with palatal tremor have presented to this department over the last three years. After discussion with the patients with regard to the management of this condition and possible complications, five opted for botulinum toxin therapy and five declined further intervention. Clinical diagnosis was made on the confirmation of soft palate movements synchronous with an audible clicking noise. Five patients underwent botulinum toxin injection into the insertion of the levator and tensor veli palatini muscles. Of the five that were treated with toxin, four showed complete resolution of symptoms after a course of treatment. Only one patient reported transient side effects. This would suggest that botulinum toxin is a safe and effective first line treatment for palatal tremor.     

Efficacy and complication of botulinum toxin injection in palatal myoclonus: experience from a patient.

We report the outcome of botulinum toxin injection for essential palatal myoclonus, given on two occasions over a period of one year, in an eight-year-old boy, the youngest patient treated with botulinum toxin to date. Though there was significant relief of ear clicks each time after the injection, he developed severe palatal palsy following the second injection, which persisted for a month. We suggest that appropriate caution needs to be exercised when repeating botulinum toxin injections for palatal myoclonus in children.     

Voluntary control and a wider clinical spectrum of essential palatal tremor.

Essential palatal tremor (EPT) may not be a uniform or single entity. We present two patients who had some "voluntary control" over EPT, including entrainment. We review the English language literature on EPT to describe a wider clinical spectrum of this syndrome.     

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.     

Sensory sensitivity to external stimuli in Tourette syndrome patients

Patients with Tourette Syndrome often state that their sensitivity to sensations is equally or more disruptive than are motor tics. However, their sensory sensitivity is not addressed by standard clinical assessments nor is it a focus of research. This lapse likely results from our limited awareness and understanding of the symptom. In this study (1) we defined the patients' experience of sensitivity to external stimuli in detail, and (2) we tested 2 hypotheses regarding its origin. First, we interviewed in depth and administered a lengthy questionnaire to adult Tourette patients (n = 19) and age‐matched healthy volunteers (n = 19). Eighty percent of patients described heightened sensitivity to external stimuli, with examples among all 5 sensory modalities. Bothersome stimuli were characterized as faint, repetitive or constant, and nonsalient, whereas intense stimuli were well tolerated. We then determined whether the sensitivity could be the result of an increased ability to detect faint stimuli. After measuring the threshold of detection for olfactory and tactile stimuli among the patients and healthy volunteers, we found no significant differences between them for either sensory modality. These results indicate that patients' perceived sensitivity derives from altered central processing rather than enhanced peripheral detection. Last, we assessed one aspect of processing: the perception of intensity. When subjects rated the intensity of near‐threshold tactile and olfactory stimuli, there was a surprising difference: Tourette patients more frequently used the lowest range of the scale than did healthy volunteers. Future research is necessary to define the anatomical and physiological basis of the patients' experience of heightened sensitivity. © 2011 Movement Disorder Society     

Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.

We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor.     

Microstructural abnormalities of striatum and thalamus in children with Tourette syndrome

We applied diffusion‐tensor MRI (DT‐MRI) to investigate directly the water diffusivity within subcortical gray matter structures comprising the fronto‐striato‐thalamic (FST) circuit, which is implicated in the pathophysiology of Tourette syndrome (TS). We investigated the structural integrity of basal ganglia and thalamus in 23 children with TS and 35 age‐matched healthy controls (NC), and examined the association of DT‐MRI measures to tic severity and comorbid symptoms. We measured parallel (λ₁) and perpendicular (λ₂₃) diffusivity, mean diffusivity (MD), and fractional anisotropy (FA) in both hemispheres. Compared with NC, the TS group showed a significant increase in λ₁ (P = 0.003) and MD (P = 0.027) in the bilateral putamen, an increase in λ₂₃ in right thalamus (P = 0.008), and a reversed asymmetry of FA (P = 0.03) in the thalamus. There was a significant positive correlation between λ₂₃ in right thalamus and tic severity. TS patients showed significantly lower left caudate volume (P = 0.011) and bilateral thalamic volumes (left, P = 0.035, right P = 0.006) compared with NC. These findings support the notion that microstructural dysfunction measured by DT‐MRI in component regions of the FST circuit contribute to the pathophysiology in TS. © 2008 Movement Disorder Society     

Clinical and imaging characterization of a patient with idiopathic progressive ataxia and palatal tremor

We describe clinical and imaging features of a patient with sporadic progressive ataxia and palatal tremor (PAPT) of unknown etiology. There was hypertrophy of bilateral inferior olivary nuclei with hyperintense T2-weighted signal and mild cerebellar atrophy at brain magnetic resonance imaging. 18F-fluoro-2-desoxy- d -glucose positron emission tomography scanning (FDG-PET) showed hypometabolism in the red nucleus, external globus pallidus and precuneus while FP-CIT-SPECT imaging revealed mild and progressive loss of striatal dopaminergic terminals. Our findings suggest that in idiopathic PAPT involvement of the dentato-rubro-olivary pathway occurs along with some dopaminergic dysfunction.     

Association of cortical disinhibition with tic, ADHD, and OCD severity in Tourette syndrome.

Hyperkinetic disorders may involve excess excitatory output from thalamus to cerebral cortex. Case-control, neurophysiological studies in persons with Tourette Syndrome (TS), Attention Deficit Hyperactivity Disorder (ADHD), and Obsessive-Compulsive Disorder (OCD) support this model. To compare the strength of association between motor cortex inhibition and tic, ADHD, and OCD severity in TS, we used transcranial magnetic stimulation to measure motor cortex inhibition in 36 children and adults with TS. Current symptom severity was assessed with standard clinical rating scales and compared with neurophysiological measures using correlational and multivariate regression analyses. Severity of ADHD symptoms and motor tics were associated significantly and independently with short interval intracortical inhibition (SICI) (r(2) = 0.50; F[2,27] = 13.7; P < 0.001), particularly in subjects not taking neuroleptics (r(2) = 0.68; F[2,17] = 17.8; P < 0.0001). The correlation of cortical disinhibition was greater with ADHD symptoms severity (r = 0.53; P = 0.003) than with tic severity (r = 0.42; P = 0.02), suggesting that in TS, the association between SICI and ADHD symptoms may be more consistent or direct than the association between SICI and tics.     

阿立哌唑成功治疗抽动秽语综合征1例报告(英文)

概述:抽动-秽语综合征(Tourette syndrome,TS)是一种儿童期发病的神经精神障碍,特征是多发性运动抽动和发声抽动,病程至少1年。本病例报告描述了一位16岁男孩患有抽动-秽语综合征6年,症状已使其功能严重受损。阿立哌唑10 mg/d治疗一个月左右后,该患者的症状完全消失,恢复了病前的生活。在这种情况下,需要权衡长期使用抗精神病药物潜在的不良反应与持续的抽动秽语症状对患者生活造成的破坏性影响。     

Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor.

Familial cortical myoclonic tremor (FCMT) is a rare disorder often leading to a wrong clinical diagnosis of essential tremor. Electrophysiological data are usually considered to allow a correct diagnosis. We describe a FCMT French family with previously unreported clinical features such as sensitivity to glucose deprivation, vibration, repetitive visual patterns, and intense visual or auditory stimulation and contrasts. Electrophysiological studies of the propositus confirm the cortical reflex myoclonus elicited by photic stimulation and the absence of epileptic electroencephalographic discharges. We emphasize that a precise clinical analysis can lead to a correct diagnosis before electrophysiological confirmation. This is also the first-ever report of efficacy of levetiracetam in FCMT.     

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.     

Pre-movement gating of somatosensory evoked potentials in Tourette syndrome

ObjectiveTourette syndrome (TS) is a neurobehavioral disorder characterized by motor and vocal tics. Simple tics are purposeless involuntary movements that spontaneously resolve during middle adolescence. Complex tics appear to be semi-voluntary movements that may become intractable when associated with obsessive–compulsive disorder (OCD). Sensory tics or urges preceded by tics suggest sensorimotor processing impairment in TS. We aimed to clarify its pathophysiology by exploring the pre-movement gating (attenuation) of somatosensory evoked potentials (SEPs).MethodsWe examined 42 patients (aged 9–48 years), 4 of whom underwent follow-up assessment, along with 19 healthy controls. We defined patients with only simple tics as TS-S and patients with complex tics as TS-C. Pre-movement gating of SEPs was assessed using a previously described method. Frontal N30 (FrN30) amplitudes were compared between pre-movement and resting states. The gating ratio of pre-movement/resting amplitude of the FrN30 component was assessed: the larger the ratio, the less the gating.ResultsThe gating ratio for TS-C patients was larger than that of TS-S patients and healthy controls, but a statistical difference between TS-S and TS-C appeared after 15 years and over (p < 0.001). There were no significant differences in the gating ratio between TS-S patients and healthy controls. The gating ratio was related to the severity of OCD (p < 0.05).ConclusionSensorimotor processing was preserved for simple tics but impaired in complex tics, specifically after middle adolescence. Our study supports an age-dependent dysfunction of both motor and non-motor cortico-striato-thalamo-cortical circuits in complex tics. SEP gating seems promising as a tool for assessing age-dependent sensorimotor disintegration in TS.     

Progressive ataxia and palatal tremor: Two autopsy cases of a novel tauopathy

Background: Sporadic progressive ataxia and palatal tremor is a rare syndrome characterized by mid‐ to late‐adult‐onset symptomatic palatal tremor and slowly progressive cerebellar ataxia. To date, there has been only one autopsy report, which described a novel 4‐repeat tauopathy with hypertrophic olivary degeneration and tau‐positive inclusions in olivary neurons and dystrophic neuritic processes termed glomeruloid bodies. We report on 2 additional autopsy cases. Methods: Sections from selected paraffin‐embedded brain regions were stained with hematoxylin and eosin/Luxol fast blue and processed for phosphorylated tau, 3‐repeat tau, 4‐repeat tau, neurofilament, glial fibrillary acid protein, phosphorylated α‐synuclein, phosphorylated TAR DNA‐binding protein 43, beta‐amyloid, and p62 immunohistochemistry. Results: Two male patients were aged 74 and 64 years at onset. Both had clinical findings consistent with progressive ataxia and palatal tremor and T2 hyperintensity in the bilateral olives on MRI. Pathological findings included bilateral hypertrophic olivary degeneration accompanied by glomeruloid bodies, 3‐repeat and 4‐repeat tau‐positive neuronal inclusions in the olive, and additional tauopathy in the midbrain, pons, and thalamus. Cerebellar cortical degeneration was extensive, but involvement of the dentate was minimal. P62‐positive, but tau‐ and TAR DNA‐binding protein 43–negative, inclusions in the cerebellum of 1 case was also a feature. Conclusions: Whereas our findings are largely in keeping with the previously published case report, we found a more extensive and mixed 3/4‐repeat tauopathy and additional cerebellar p62 pathology, highlighting our incomplete understanding of the pathogenesis of this disease. © 2017 International Parkinson and Movement Disorder Society     

A case of Tourette syndrome treated with nifedipine

A 22-year-old man with severe Tourette syndrome successfully treated with nifedipine is described. Controlled studies are called for.     

Tourette综合征患者的智力水平研究

目的测试TS患者的智力水平及分测验结构.方法采用韦氏儿童智力量表(C-WISC)对64例患儿和60例正常小儿进行智力评估.结果 Tourette综合征患者的智商多在正常范围或边缘水平,除词汇、知识外,其余各分测验及PIQ、VIQ、FIQ均显著低于对照组(P＜0.05),PIQ与VIQ之间的平衡性较差.结论Tourette综合征患者的智商较正常少儿平均水平为低,且智力发展不平衡者较多.     

24小时动态脑电图监测Tourette综合征癫痫样放电

目的：探讨Ｔｏｕｒｅｔｔｅ综合征（ＴＳ）癫痫样脑波的是临床意义。方法：利用动态脑电图仪对８６例ＴＳ患儿作２４小时监测。结果：８６例ＴＳ患儿中有１３例（１５．１％）监测到ＥＥＧ癫痫样放电。其中５例（６％）合并癫痫,８例（９．３％）无癫痫发作。结论：ＴＳ的癫痫样波一部分与癫痫有关,另一部分意义未明,可能遗传有关。