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Background: Tics are the hallmark of Tourette syndrome (TS) and chronic tic disorders (CTD). Although typically involving the face, especially at onset, tics may involve any muscle under voluntary control, including axial muscles of the neck (causing head movements), shoulders and trunk (thorax and abdomen). We aimed to characterize these tics and provide a clinical frame for their associations and complications., Materials and Methods: We reviewed video recordings and clinical history of 196 patients with TS or CTD according to DSM-5., Results: Any axial tic was identified in 75% of patients. Tic distribution were head (n = 113, 57.6%), shoulder (n = 91, 46.4%), and trunk (n = 63, 32.2%). There were no differences in sex, age at onset or at evaluation between patients with and without axial tics. The most common axial tics by anatomical distribution were head turning, bilateral synchronous shoulder elevation and trunk jerks; however, tic phenomenology was quite variable. A greater severity of tics (P = 0.018) was associated with axial tics in the multivariate regression analysis. Head/neck tics associated with simple phonic tics (P = 0.002); whereas shoulder and trunk tics associated with complex motor tics (P < 0.05) in a bivariate analysis. Neck pain, breathing interference, sleep limitation and radiculopathy, secondary to axial tics were complications observed in a proportion of these cases., Conclusions: Axial tics are commonly observed in patients with TS/CTD with variable phenomenology. They associate with greater tic severity, phonic tics and complex motor tics. They may result in neck pain, breathing interference, sleeping problems and cervical spine injuries., Competing Interests: Declarations Conflicts of interest On behalf of all the authors, the corresponding author states that there is no conflict of interest., (© 2024. Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Tourette syndrome (TS) is the most common cause of chronic tics. Patients with TS frequently manifest motor tics involving the eyes and face but oromandibular (OM) tics have been rarely studied., Materials and Methods: We reviewed the medical records and video-recordings of 155 consecutive patients with TS in our movement disorders clinic. In addition, we studied 35 patients with classic tardive dyskinesia (TD) and compared their clinical and demographic features with those with TS., Results: We identified 41 patients with OM tics (26.5%). Although patients with OM tics had a greater overall tic severity and higher frequency of.complex motor and phonic tics, in the bivariate analysis, only comorbid dystonic tics (P = 0.001), greater number of affected body parts (P = 0.012) and more frequent eye-rolling tics (P = 0.059) were included in the final regression model after controlling for other variables. When compared with patients with OM tics, patients with classic TD had more frequently masticatory movements (sensitivity, 0.86; specificity, 0.95), continuous tongue movements (sensitivity, 0.71; specificity, 1.0) and continuous OM movements (sensitivity, 0.4; specificity, 1.0)., Conclusions: OM tics are common and often troublesome or even disabling symptoms in patients with TS. They may be difficult to differentiate from TD, but the latter is typically manifested by continuous orolingual and masticatory movements., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)

Background: Dystonic tics differ from clonic tics by their slower and more sustained nature. Dystonic tics are often present in patients with Tourette syndrome (TS) and other tic-disorders. However, their phenomenology and impact on overall impairment have not been extensively studied., Materials and Methods: We assessed clinical history and tic duration in video-recordings from patients with TS evaluated at our movement disorders clinic. Dystonic tics were defined as those lasting ≥ 1000 ms (ms)., Results: Of the total of 201 patients with TS, there were 156 with video-recordings suitable for tic duration analysis, of their tics, 57 (36.5%) of whom had dystonic motor tics, including 9 (5.7%) with dystonic phonic tics. Dystonic motor tics had a duration range between 1033 and 15,000 ms and dystonic phonic tics between 1132 and 17,766 ms. Patients with dystonic tics were older 24.4 vs. 16.5 years (P = 0.005) and had an older age at onset 12.9 vs. 7.2 years (P < 0.001), than patients without dystonic tics. The bivariate analysis showed an association between the presence of dystonic tics, greater tic severity and wider body distribution. The multivariate regression analysis showed a statistical association with older age at evaluation (P = 0.001), greater tic severity on video-recordings (P = 0.001) and co-occurrence with complex motor tics (P = 0.020). The presence of dystonic tics increased the risk for being considered for deep brain stimulation therapy, odds ratio: 15.7 (P = 0.002)., Conclusion: Dystonic tics, observed in about a third of patients with TS, are associated with increased severity of TS., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)

Introduction: Tourette syndrome (TS) is characterized by the presence of motor and phonic tics, as well as a variety of behavioral co-morbidities. Self-injurious behavior (SIB) is one of the most serious manifestations of TS, but its pathophysiology is poorly understood., Methods: Consecutive patients with TS studied in a tertiary care center., Results: We identified a total of 34 patients (16.9%) with SIB from a cohort of 201 patients with TS. Most of these patients (n = 23, 11.4%) experienced self-directed damage; while others had outward-directed (n = 7, 3.5%) or tic-related SIB (n = 4, 2%). Compared to other patients with TS, those who manifested SIB (self- and outward-directed damage) were more likely to have tics involving shoulder (P = 0.046), trunk (P = 0.006), and arm (P = 0.017); as well as dystonic tics (P = 0.016); complex motor tics (P < 0.001), copropraxia (P = 0.045), complex phonic tics (P = 0.003), higher number of phonic tics (P = 0.001), verbalizations (P = 0.001), coprolalia (P = 0.006) and obsessive compulsive disorder (OCD) (P < 0.001) as determined by bivariate analysis. In the multivariate analysis only complex motor tics (P = 0.006), obsessive-compulsive behavior (P = 0.025) and greater severity of tics (P = 0.002) showed a statistically significant association with SIB. Patients with SIB had a greater probability of being selected for deep brain stimulation (DBS) therapy by the treating clinician (P = 0.01)., Conclusions: SIB is observed in about 17% of patients with TS. The presence of complex motor tics, OCD and greater severity of tics was related to the presence of SIB., (© 2021. Springer-Verlag GmbH Germany, part of Springer Nature.)

Functional (psychogenic) movement disorders (FMDs) may present with a broad spectrum of phenomenology including stereotypic movements. We aimed to characterize the phenomenology of functional stereotypies and compare these features with those observed in 65 patients with tardive dyskinesia (TD). From a cohort of 184 patients with FMDs, we identified 19 (10.3%) with functional stereotypies (FS). There were 15 women and 4 men, with a mean age at onset of 38.6 ± 17.4 years. Among the patients with FS, there were 9 (47%) with orolingual dyskinesia/stereotypy, 9 (47%) with limb stereotypies, 6 (32%) with trunk stereotypies, and 2 (11%) with respiratory dyskinesia as part of orofacial-laryngeal-trunk stereotypy. These patients showed signs commonly seen in FMDs such as sudden onset (84%), prominent distractibility (58%), and periods of unexplained improvement (84%) that were not reported in patients with TD. Besides a much lower frequency of exposure to potential offending drugs, patients with FS differed from those with classic TD by a younger age at onset, lack of self-biting, uncommon chewing movements, more frequent lingual movements without mouth dyskinesia, and associated functional tremor and abnormal speech. Lack of self-biting showed the highest sensitivity (1.0) and abnormal speech showed the highest specificity (0.9) for the diagnosis of functional orolingual dyskinesia. FS represent part of the clinical spectrum of FMDs. Clinical and demographic features are helpful in distinguishing patients with FS from those with TD.

Hemifacial spasm (HFS) is one of the most common presentations in patients with cranial psychogenic (functional) movement disorders (PMD). Medical records and videos of patients with PMD and HFS were reviewed to identify those with psychogenic HFS and to compare the phenomenology of psychogenic HFS with organic HFS. We identified 18 (9.8%) patients with psychogenic HFS from a cohort of 184 patients with PMDs. There were 14 (78%) women and 4 men, with a mean age at onset of 33 ± 13.5 years. These were compared with 37 consecutive patients with organic (primary) HFS. Patients with psychogenic HFS were significantly younger and had more frequently tonic muscle contractions, bilateral asynchronous hemifacial involvement, isolated lower facial involvement, downward deviation of the mouth's angle, and lack of the "other Babinski sign" compared to those with organic HFS. Other features such as ipsilateral downward movements of the eyebrow; associated tremor, dystonia and hemi-masticatory spasms were more frequently observed in patients with psychogenic HFS but these differences did not reach statistical significance. Lack of other Babinski sign and tonic muscle contractions showed the highest sensitivity (1.00 and 0.87, respectively), whereas downward mouth's angle deviation showed the highest specificity (1.00) for the diagnosis of psychogenic HFS. Besides other features such as suggestibility, distractibility, periods of unexplained improvements observed in most patients with PMDs, several clinical features, such as tonic muscle contractions, downward mouth's angle deviation, predominant lower facial and bilateral involvement, may be helpful in distinguishing psychogenic from organic HFS.

Psychogenic speech and voice disorders (PSVDs) may occur in isolation but more typically are encountered in the setting of other psychogenic disorders. We aimed to characterize the phenomenology, frequency, and correlates of PSVDs in a cohort of patients with psychogenic movement disorders (PMDs). We studied 182 consecutive patients with PMDs, 30 of whom (16.5 %) also exhibited PSVD. Stuttering was the most common speech abnormality (n = 16, 53.3 %), followed by speech arrests (n = 4, 13.3 %), foreign accent syndrome (n = 2, 6.6 %), hypophonia (n = 2, 6.6 %), and dysphonia (n = 2, 6.6 %). Four patients (13.2 %) had more complex presentations with different combinations of these patterns. No differences in gender, age at onset, and distribution of PMDs were observed between patients with and without PSVD. PSVDs are relatively frequent in patients with PMDs and are manifested by a wide variety of abnormal speech and voice phenomena, with stuttering being the most common presentation. Speech therapy and insight-oriented counseling may be helpful to some patients.

Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramidal symptoms. Tremor is a classical but not frequent manifestation of SCA3 and there is a lack of detailed knowledge regarding its origin. To study the clinical and electrophysiological characteristics of tremor in SCA3 patients, the authors conducted a case series of 72 SCA3 patients. Clinical characteristics of tremor and associated signs, response to treatments, follow-up, and genetic results were collected. Electrophysiological study including polymyographic recording was possible in 4/6 patients and DaTSCAN in 2/6. The authors also performed a systematic review of SCA3 cases with tremor (n = 36) reported previously in the literature. We identified two different tremor-types in 6/72 patients with SCA3 mutations, a "fast" (6.5-8 Hz) action, postural or tremor in orthostatism (initial symptom), which became slower over time with associated parkinsonism with a follow-up of 10 years and a "slow" rest, action and intention tremor (3-4 Hz) with distal and proximal component (including axial tremor in orthostatism). Total improvement of limbs and tremor in orthostatism was obtained with levodopa with occurrence of fluctuations/dyskinesia. Partial benefit was observed when additional signs were present (myoclunus/dystonia). The differences in tremor subtypes in SCA3 may be related to various combinations of mild to severe dysfunctions of the cerebello-thalamo-cortical loop and the nigro-striatal dopaminergic pathway.

A rapid and complete recanalization of the occluded artery is the ideal goal when intravenous (IV) recombinant tissue plasminogen activator (rt-PA) is administrated to patients with acute ischemic stroke, i.e., limiting the ongoing ischemia to achieve a better outcome. We explored the effect of complete versus partial recanalization of the occluded intracranial artery after IV thrombolysis on the infarct growth and evaluated the functional impact. Using diffusion-weighted (DWI) volumetric measurements before rt-PA administration (DWI(1)) and 24 h later (DWI(2)), we calculated the infarct growth in 36 consecutive patients with ischemic stroke treated with IV rt-PA, with the formula DWI(2)/DWI(1). Recanalization of the affected artery was assessed by transcranial Doppler (TCD) and magnetic resonance angiography (MRA) within 24 h of stroke onset. Three patients were eliminated from the analysis; 33 patients were fully analyzed (men: n = 23; mean (SD) age: 72.4 ± 16 years; time from stroke onset to rt-PA: 179 ± 54 min; mean NIHSS score at admission: 17). Patients achieving full recanalization by TCD had a smaller infarct growth, compared to those who had a partial or persistent occlusion after thrombolysis: 1.86 versus 2.91 (P = 0.017). This difference was not significant using MRA criteria: 2.01 versus 2.69 (P = 0.193). In the regression analysis, complete recanalization by TCD was an independent predictor of infarct growth (P = 0.045). Thus, complete recanalization measured by TCD within 24 h of IV thrombolysis was independently associated with smaller infarct growth.

Microembolic signals (MES) are detected by transcranial Doppler (TCD), and are mainly observed in cardiac and large-artery diseases; however they might also be observed in conditions affecting small vessels of the brain. We aimed to review the current medical literature related to MES assessed by TCD in patients with cerebral small vessel disease. We conducted a systematic review in PubMed and selected the articles with information on this topic. Systemic lupus erythematosus (SLE) is the disease with more articles; pooled data showed a frequency of MES of 14.9%. MES were more frequent in SLE patients with antiphospholipid antibodies and ischemic stroke. MES have also been described in other diseases such as primary antiphospholipid syndrome, Sneddon's syndrome, and Behçet's disease. Further studies assessing the significance of MES in the pathogenesis of neurological manifestations of these disorders is warranted.