The purpose of this study is to review advances in magnetic resonance (MR)-neurography and nerve-ultrasound for the precise visualization and localization of nerve lesions not only in nerve trauma or ...mass lesions, but also in entrapment-related and spontaneously occurring intrinsic neuropathies. These advances may improve the understanding and classification of peripheral neuropathies.
Diagnostic studies of MR-neurography and high-resolution ultrasound in entrapment-neuropathies consistently report accurate determination and localization of symptomatic nerve entrapment. Additionally, the longitudinal sampling of nerve-T2-signal over larger areas of coverage has become technically feasible. With this approach, more complex patterns of spatial lesion dispersion in nonfocal neuropathies could be observed with reliable lesion image contrast at the level of individual nerve fascicles. Imaging detection of fascicular lesions allows for more accurate localization, because fascicular lesion types represent a specific pitfall for clinical-electrophysiological examinations. Fascicular hypoechogenicity of high-resolution ultrasound is the correlate of nerve-T2-signal lesions, but contrast is inferior and difficult to quantify. Therefore, nerve enlargement remains the main diagnostic criterion in high-resolution ultrasound. Diffusion-tensor-MR-neurography provides quantitative estimates of fiber structure, which were shown to correlate with aging and focal entrapment.
High-resolution nerve imaging with extended anatomical coverage is feasible and improves the topographic description of spatial lesion dispersion which is particularly relevant for the discrimination between focal and nonfocal neuropathies.
Complex dystonias are defined as dystonias that are accompanied by neurologic or systemic manifestations beyond movement disorders. Many syndromes or diseases can present with complex dystonia, ...either as the cardinal sign or as part of a multi-systemic manifestation. Complex dystonia often gradually develops in the disease course, but can also be present from the outset. If available, the diagnostic workup, disease-specific treatment, and management of patients with complex dystonias require a multi-disciplinary approach. This article summarizes current knowledge on complex dystonias with a particular view of recent developments with respect to advances in diagnosis and management, including causative treatments.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Abstract
Premonitory urges preceding tics are a cardinal feature of Gilles de la Tourette syndrome (GTS), a developmental disorder usually starting during middle childhood. However, the temporal ...relation between urges and tics has only been investigated in adults. In 25 children and adolescents with GTS (8–18 years), we assess urge-tic associations, including inter-individual differences, correlation to clinical measures, and in comparison to a previously reported sample of adult GTS patients. Group-level analyses confirmed positive associations between urges and tics. However, at the individual level, less than half of participants showed positive associations, a similar proportion did not, and in two participants, the association was reversed. Tic expression and subjective urge levels correlated with corresponding clinical scores and participants with more severe tics during the urge monitor exhibited stronger urge-tic associations. Associations between reported urge levels and instantaneous tic intensity tended to be less pronounced in children and adolescents than in adult GTS patients. The observed heterogeneity of urge-tic associations cast doubt on the notion that tics are directly caused by urges. More severe tics may facilitate anticipation of tics and thereby lead to more pronounced urge-tic associations, consistent with a hypothesis of urges as a byproduct of tics.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Non-invasive brain stimulation techniques including repetitive transcranial magnetic stimulation (rTMS), continuous theta-burst stimulation (cTBS), paired associative stimulation (PAS), and ...transcranial direct current stimulation (tDCS) have been applied over the cerebellum to induce plasticity and gain insights into the interaction of the cerebellum with neo-cortical structures including the motor cortex. We compared the effects of 1 Hz rTMS, cTBS, PAS and tDCS given over the cerebellum on motor cortical excitability and interactions between the cerebellum and dorsal premotor cortex / primary motor cortex in two within subject designs in healthy controls. In experiment 1, rTMS, cTBS, PAS, and tDCS were applied over the cerebellum in 20 healthy subjects. In experiment 2, rTMS and PAS were compared to sham conditions in another group of 20 healthy subjects. In experiment 1, PAS reduced cortical excitability determined by motor evoked potentials (MEP) amplitudes, whereas rTMS increased motor thresholds and facilitated dorsal premotor-motor and cerebellum-motor cortex interactions. TDCS and cTBS had no significant effects. In experiment 2, MEP amplitudes increased after rTMS and motor thresholds following PAS. Analysis of all participants who received rTMS and PAS showed that MEP amplitudes were reduced after PAS and increased following rTMS. rTMS also caused facilitation of dorsal premotor-motor cortex and cerebellum-motor cortex interactions. In summary, cerebellar 1 Hz rTMS and PAS can effectively induce plasticity in cerebello-(premotor)-motor pathways provided larger samples are studied.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Premonitory urges are a cardinal feature in Tourette syndrome and are commonly viewed as the driving force of tics, building up before and subsiding after the execution of tics. Although the urge-tic ...interplay is one of the most preeminent features in Tourette syndrome, the temporal relationship between tics and urges has never been examined experimentally, mainly due to the lack of an appropriate assessment tool.
We investigated the temporal relationship between urge intensity and tics in 17 Tourette patients and between urge intensity and eye blinks in 16 healthy controls in a free ticcing/blinking condition and a tic/blink suppression condition. For this purpose, an urge assessment tool was developed that allows real-time monitoring and quantification of urge intensity.
Compared to free ticcing/blinking, urge intensity was higher during the suppression condition in both Tourette patients and healthy controls, while tics and blinks occurred less frequently.
The data show that urge intensity increases prior to tics and decreases after tics in a time window of approximately ±10 sec. Tic suppression had a significant effect on the shape of the urge distribution around tics and led to a decrease in the size of the correlation between urge intensity and tics, indicating that tic suppression led to a de-coupling of tics and urges.
In healthy controls, urges to blink were highly associated with eye blink execution, albeit in a narrower time frame (∼±5 sec). Blink suppression had a similar effect on the urge distribution associated with eye blinks as tic suppression had on the urge to tic in Tourette patients.
These results corroborate the negative reinforcement model, which proposes that tics are associated with a relief in urges, thereby perpetuating ticcing behaviour. This study also documents similarities and differences between urges to act in healthy controls and urges to tic in Tourette syndrome.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
In the literature on human action control, it is assumed that features of stimuli (S) and responses (R) are integrated into internal representations (so-called event files) that are involved in the ...execution of an action. Experimentally, the impact of this integration on action control is typically analyzed via S-R binding effects. Recent theorizing in the BRAC framework (Frings et al., 2020) suggests to disentangle the processes of S-R binding proper from S-R retrieval as two independent components contributing to S-R binding effects. Since the literature on age effects on S-R binding effects is scarce and does not provide information on whether the existing findings about the two processes can be generalized to older age groups, this is the first study addressing the effects of older age separately on S-R binding proper vs. S-R retrieval. In two established variants of S-R binding tasks (cumulative n = 262), we contrasted binding (by using a saliency manipulation at the time of binding proper) versus retrieval processes (by manipulating the onset of the distractor at the time of retrieval), replicating previous results in younger (18–30 years) and also in older healthy controls (50–70 years). We therefore found no evidence for age effects on S-R binding proper or S-R retrieval. We thus conclude that the processes contributing to S-R binding effects are – at least in the age groups analyzed in this study – robust and age-independent.
In human action control, binding proper and retrieval of features in stimulus-response episodes typically lead to so-called S-R binding effects. Against the background of recent theorizing, binding proper and retrieval should be studied independently. In this article, we ran a younger and an older age group and analyzed possible age-related differences in integration or retrieval. Both groups showed the expected pattern for binding and retrieval as expected from the literature.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Gilles de la Tourette Syndrome is a multifaceted neuropsychiatric disorder typically commencing in childhood and characterized by motor and phonic tics. Its pathophysiology is still incompletely ...understood. However, there is convincing evidence that structural and functional abnormalities in the basal ganglia, in cortico-striato-thalamo-cortical circuits, and some cortical areas including medial frontal regions and the prefrontal cortex as well as hyperactivity of the dopaminergic system are key findings. Conventional therapeutic approaches in addition to counseling comprise behavioral treatment, particularly habit reversal therapy, oral pharmacotherapy (antipsychotic medication, alpha-2-agonists) and botulinum toxin injections. In treatment-refractory Tourette syndrome, deep brain stimulation, particularly of the internal segment of the globus pallidus, is an option for a small minority of patients. Based on pathophysiological considerations, non-invasive brain stimulation might be a suitable alternative. Repetitive transcranial magnetic stimulation appears particularly attractive. It can lead to longer-lasting alterations of excitability and connectivity in cortical networks and inter-connected regions including the basal ganglia through the induction of neural plasticity. Stimulation of the primary motor and premotor cortex has so far not been shown to be clinically effective. Some studies, though, suggest that the supplementary motor area or the temporo-parietal junction might be more appropriate targets. In this manuscript, we will review the evidence for the usefulness of repetitive transcranial magnetic stimulation and transcranial electric stimulation as treatment options in Tourette syndrome. Based on pathophysiological considerations we will discuss the rational for other approaches of non-invasive brain stimulation including state informed repetitive transcranial magnetic stimulation.
Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by motor and phonic tics that can be considered motor responses to preceding inner urges. It has been shown that Tourette ...patients have inferior performance in some motor learning tasks and reduced synaptic plasticity induced by transcranial magnetic stimulation. However, it has not been investigated whether altered synaptic plasticity is directly linked to impaired motor skill acquisition in Tourette patients. In this study, cortical plasticity was assessed by measuring motor-evoked potentials before and after paired associative stimulation in 14 Tourette patients (13 male; age 18-39) and 15 healthy controls (12 male; age 18-33). Tic and urge severity were assessed using the Yale Global Tic Severity Scale and the Premonitory Urges for Tics Scale. Motor learning was assessed 45 minutes after inducing synaptic plasticity and 9 months later, using the rotary pursuit task. On average, long-term potentiation-like effects in response to the paired associative stimulation were present in healthy controls but not in patients. In Tourette patients, long-term potentiation-like effects were associated with more and long-term depression-like effects with less severe urges and tics. While motor learning did not differ between patients and healthy controls 45 minutes after inducing synaptic plasticity, the learning curve of the healthy controls started at a significantly higher level than the Tourette patients' 9 months later. Induced synaptic plasticity correlated positively with motor skills in healthy controls 9 months later. The present study confirms previously found long-term improvement in motor performance after paired associative stimulation in healthy controls but not in Tourette patients. Tourette patients did not show long-term potentiation in response to PAS and also showed reduced levels of motor skill consolidation after 9 months compared to healthy controls. Moreover, synaptic plasticity appears to be related to symptom severity.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Gilles de la Tourette syndrome is a multifaceted and complex neuropsychiatric disorder. Given that tics as motor phenomena are the defining and cardinal feature of Tourette syndrome, it has long been ...conceptualized as a motor/movement disorder. However, considering premonitory urges preceding tics, hypersensitivity to external stimuli and abnormalities in sensorimotor integration perceptual processes also seem to be relevant in the pathophysiology of Tourette syndrome. In addition, tic expression depends on attention and tics can, at least partly and transiently, be controlled, so that cognitive processes need to be considered as well. Against this background, explanatory concepts should encompass not only the motor phenomenon tic but also perceptual and cognitive processes. Representing a comprehensive theory of the processing of perceptions and actions paying particular attention to their interdependency and the role of cognitive control, the Theory of Event Coding seems to be a suitable conceptual framework for the understanding of Tourette syndrome. In fact, recent data suggests that addressing the relation between actions (i.e., tics) and perceptions (i.e., sensory phenomena like premonitory urges) in the context of event coding allows to gaining relevant insights into perception-action coding in Tourette syndrome indicating that perception action binding is abnormally strong in this disorder.
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