Personality Profile in Focal Hand Dystonia: A Cross-Sectional Study.
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ABSTRACT:
SUBMITTER: Perez-de-Heredia-Torres M
PROVIDER: S-EPMC8345782 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Focal Hand Dystonia (FHD) is a disabling movement disorder characterized by involuntary movements, cramps and spasms. It is associated with pathological neural microcircuits in the cortical somatosensory system. While invasive preclinical modalities allow researchers to probe specific neural microcircuits of cortical layers and columns, conventional functional magnetic resonance imaging (fMRI) cannot resolve such small neural computational units. In this study, we take advantage of recent developments in ultra-high-field MRI hardware and MR-sequences to capture altered digit representations and laminar processing in FHD patients. We aim to characterize the capability and challenges of layer-specific imaging and analysis tools in resolving laminar and columnar structures in clinical research setups. We scanned N = 4 affected and N = 5 unaffected hemispheres at 7T and found consistent results of altered neural microcircuitry in FHD patients: 1) In affected hemispheres of FHD patients, we found a breakdown of ordered finger representation in the primary somatosensory cortex, as suggested from previous low-resolution fMRI. 2) In affected primary motor cortices of FHD patients, we furthermore found increased fMRI activity in superficial cortico-cortical neural input layers (II/III), compared to relatively weaker activity in the cortico-spinal output layers (Vb/VI). Overall, we show that layer-fMRI acquisition and analysis tools have the potential to address clinically-driven neuroscience research questions about altered computational mechanisms at the spatial scales that were previously only accessible in animal models. We believe that this study paves the way for easier translation of preclinical work into clinical research in focal hand dystonia and beyond.
| S-EPMC10081516 | biostudies-literature
Project description:Electrophysiological and behavioral studies in primary dystonia suggest abnormalities during movement preparation, but this crucial phase preceding movement onset has not yet been studied specifically with functional magnetic resonance imaging (fMRI). To identify abnormalities in brain activation during movement preparation, we used event-related fMRI to analyze behaviorally unimpaired sequential finger movements in 18 patients with task-specific focal hand dystonia (FHD) and 18 healthy subjects. Patients and controls executed self-initiated or externally cued prelearnt four-digit sequential movements using either right or left hands. In FHD patients, motor performance of the sequential finger task was not associated with task-related dystonic posturing and their activation levels during motor execution were highly comparable with controls. On the other hand reduced activation was observed during movement preparation in the FHD patients in left premotor cortex / precentral gyrus for all conditions, and for self-initiation additionally in supplementary motor area, left mid-insula and anterior putamen, independent of effector side. Findings argue for abnormalities of early stages of motor control in FHD, manifesting during movement preparation. Since deficits map to regions involved in the coding of motor programs, we propose that task-specific dystonia is characterized by abnormalities during recruitment of motor programs: these do not manifest at the behavioral level during simple automated movements, however, errors in motor programs of complex movements established by extensive practice (a core feature of FHD), trigger the inappropriate movement patterns observed in task-specific dystonia.
| S-EPMC3805688 | biostudies-literature
Project description:BackgroundThe efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy for the treatment of focal hand dystonia (FHD) is not well known.ObjectiveWe aimed to prospectively investigate the efficacy of MRgFUS thalamotomy for the treatment of FHD.MethodsWe performed MRgFUS thalamotomy of the ventro-oral (Vo) nucleus in 10 patients with FHD. We evaluated the scores of the Writer's Cramp Rating Scale (WCRS, 0-30; higher scores indicating greater severity), Tubiana Musician's Dystonia Scale (TMDS, 0-5; lower scores indicating greater severity), and Arm Dystonia Disability Scale (ADDS, 0%-100%; lower scores indicating greater disability) at baseline and 3 and 12 months post-treatment.ResultsWCRS, TMDS, and ADDS scores significantly improved from 6.3 ± 2.7, 1.4 ± 0.5, and 58.7% ± 14.3% at baseline to 1.6 ± 3.1 (P = 0.011), 5.0 ± 0 (P = 0.0001), and 81.6% ± 22.9% (P = 0.0229) at 12 months, respectively. There was one prolonged case of dysarthria at 12 months.ConclusionWe show that MRgFUS Vo-thalamotomy significantly improved FHD. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
| S-EPMC8453941 | biostudies-literature
Project description:The treatment of writer's cramp, a task-specific focal hand dystonia, needs new approaches. A deficiency of inhibition in the motor cortex might cause writer's cramp. Transcranial direct current stimulation modulates cortical excitability and may provide a therapeutic alternative. In this randomized, double-blind, sham-controlled study, we investigated the efficacy of cathodal stimulation of the contralateral motor cortex in 3 sessions in 1 week. Assessment over a 2-week period included clinical scales, subjective ratings, kinematic handwriting analysis, and neurophysiological evaluation. Twelve patients with unilateral dystonic writer's cramp were investigated; 6 received transcranial direct current and 6 sham stimulation. Cathodal transcranial direct current stimulation had no favorable effects on clinical scales and failed to restore normal handwriting kinematics and cortical inhibition. Subjective worsening remained unexplained, leading to premature study termination. Repeated sessions of cathodal transcranial direct current stimulation of the motor cortex yielded no favorable results supporting a therapeutic potential in writer's cramp.
| S-EPMC4180819 | biostudies-literature
Project description:BackgroundTremor is an important phenotypic motor feature in dystonia, but there is limited literature regarding its prevalence and phenomenology.MethodsThis cross-sectional study included 90 patients with adult-onset, isolated dystonia from a tertiary care movement disorder center in India. Patients were assessed for tremor in the head and in different body parts. Surface electromyography studies of tremor were recorded of the involved limb in different positions.ResultsTremor was present in 41 patients (45.55%) who had dystonia, including 21 of 41 patients (51.21%) with cervical dystonia, 15 of 34 (44.11%) with limb dystonia, and 5 of 15 (33.33%) with cranial dystonia. Significantly later age at presentation (47.19 ± 14.55 years vs. 40.39 ± 13.74 years; P = 0.012) and longer disease duration (5.11 ± 5.85 years vs. 2.60 ± 2.57 years; P = 0.004) were observed in patients with versus without tremor. Upper limb tremor was present in 33 patients, head tremor was present in 14, and leg tremor was present in 2. Tremor was present in 17 of 25 patients (68%) with segmental dystonia and in 6 of 9 (66.66%) with multifocal dystonia. Tremor was least frequent in patients with focal dystonia (18 of 56 patients; 32.14%).ConclusionsTremor was common (>45%) in patients with primary adult-onset dystonia. Patients who had tremor were older and had a longer duration of symptoms. Patients with segmental and multifocal dystonia had more tremor than those with focal dystonia. In contrast to some other studies, the current patients had more upper limb tremor than head tremor, and a combination of dystonic tremor and tremor associated with dystonia was more common than isolated dystonic tremor.
| S-EPMC6407048 | biostudies-literature
Project description:We investigated the large-scale functional cortical connectivity network in focal hand dystonia (FHD) patients using graph theoretic measures to assess efficiency. High-resolution EEGs were recorded in 15 FHD patients and 15 healthy volunteers at rest and during a simple sequential finger tapping task. Mutual information (MI) values of wavelet coefficients were estimated to create an association matrix between EEG electrodes, and to produce a series of adjacency matrices or graphs, G, by thresholding with network cost. Efficiency measures of small-world networks were assessed. As a result, we found that FHD patients have economical small-world properties in their brain functional networks in the alpha and beta bands. During a motor task, in the beta band network, FHD patients have decreased efficiency of small-world networks, whereas healthy volunteers increase efficiency. Reduced efficient beta band network in FHD patients during the task was consistently observed in global efficiency, cost-efficiency, and maximum cost-efficiency. This suggests that the beta band functional cortical network of FHD patients is reorganized even during a task that does not induce dystonic symptoms, representing a loss of long-range communication and abnormal functional integration in large-scale brain functional cortical networks. Moreover, negative correlations between efficiency measures and duration of disease were found, indicating that the longer duration of disease, the less efficient the beta band network in FHD patients. In regional efficiency analysis, FHD patients at rest have high regional efficiency at supplementary motor cortex (SMA) compared with healthy volunteers; however, it is diminished during the motor task, possibly reflecting abnormal inhibition in FHD patients. The present study provides the first evidence with graph theory for abnormal reconfiguration of brain functional networks in FHD during motor task.
| S-EPMC3236757 | biostudies-literature
Project description:UNLABELLED:Though the pathophysiology of dystonia remains uncertain, two primary factors implicated in the development of dystonic symptoms are excessive cortical excitability and impaired sensorimotor processing. The aim of this study was to determine the functional efficacy of an intervention combining repetitive transcranial magnetic stimulation (rTMS) and sensorimotor retraining. A randomized, single-subject, multiple baseline design with crossover was used to examine participants with focal hand dystonia (FHD) (n = 9). INTERVENTION:5 days rTMS + sensorimotor retraining (SMR) vs. Five days rTMS + control therapy (CTL) (which included stretching and massage). The rTMS was applied to the premotor cortex at 1 Hz at 80% resting motor threshold for 1200 pulses. For sensorimotor retraining, a subset of the Learning-based Sensorimotor Training program was followed. Each session in both groups consisted of rTMS followed immediately by 30 min of the therapy intervention (SMR or CTL). Contrary to our hypothesis, group analyses revealed no additional benefit from the SMR training vs. CTL. When analyzed across group however, there was significant improvement from the first baseline assessment in several measures, including tests of sensory ability and self-rated changes. The patient rated improvements were accompanied by a moderate effect size suggesting clinical meaningfulness. These results provide encouragement for further investigation of rTMS in FHD with a need to optimize a secondary intervention and determine likely responders vs. non-responders.
| S-EPMC4496570 | biostudies-literature
Project description:OBJECTIVES:Patients with idiopathic adult-onset cervical dystonia (CD) experience an abnormal head posture and involuntary muscle contractions. Although the exact areas affected in the central nervous system remain uncertain, impaired functions in systems stabilizing the head and neck are apparent such as the somatosensory and sensorimotor integration systems. The aim of the study is to investigate cervical sensorimotor control dysfunction in patients with CD. MATERIAL AND METHODS:Cervical sensorimotor control was assessed by a head repositioning task in 24 patients with CD and 70 asymptomatic controls. Blindfolded participants were asked to reposition their head to a previously memorized neutral head position (NHP) following an active movement (flexion, extension, left, and right rotation). The repositioning error (joint position error, JPE) was registered via 3D motion analysis with an eight-camera infrared system (VICON ® T10). Disease-specific characteristics of all patients were obtained via the Tsui scale, Cervical Dystonia Impact Profile (CDIP-58), and Toronto Western Spasmodic Rating Scale. RESULTS:Patients with CD showed larger JPE than controls (mean difference of 1.5°, p < .006), and systematically 'overshoot', i.e. surpassed the NHP, whereas control subjects 'undershoot', i.e. fall behind the NHP. The JPE did not correlate with disease-specific characteristics. CONCLUSIONS:Cervical sensorimotor control is impaired in patients with CD. As cervical sensorimotor control can be trained, this might be a potential treatment option for therapy, adjuvant to botulinum toxin injections.
| S-EPMC5607536 | biostudies-literature
Project description:Previous studies suggest that low-frequency repetitive Transcranial Magnetic Stimulation (rTMS) over contralateral premotor cortex (PMC) might ameliorate Focal Hand Dystonia (FHD) symptoms. In the present study behavioral and muscle activity outcomes were explored in a patient with FHD following a single and multiple sessions of rTMS. The patient's behavior was assessed on handwriting tasks, while surface EMG signals were recorded. In Experiment 1 evaluations were performed before and after one session of active and sham 1Hz rTMS over contralateral PMC. In Experiment 2, evaluations were performed before and after six sessions of the same treatment. In Experiment 1 active rTMS improved the patient's performance, although the EMG amplitude did not change. In Experiment 2, the patient showed an improvement of performance along with a decrease of 20% in the EMG amplitude. These results demonstrated that a single session of rTMS ameliorated the patient's performance, while multiple sessions were necessary to reduce muscles activity.
| S-EPMC6881623 | biostudies-literature
Project description:Genetic and environmental risk factors contribute to periodontal disease, but the underlying susceptibility pathways are not fully understood. Epigenetic mechanisms are malleable regulators of gene function that can change in response to genetic and environmental stimuli, thereby providing a potential mechanism mediating risk effects in periodontitis. The aim of this study is to identify epigenetic changes across tissues that are associated with periodontal disease.
2018-11-25 | GSE121633 | GEO