Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
283
datasets available to search
ShareScore release 0.9.0
Dataset results
283 results for “Dystonia”
Static Graviceptive Functions in Patients With Cervical Dystonia (CD)
ClinicalTrials.gov study NCT01180270. IPD Sharing: Not stated. Countries: 1. Publications: 2.
The Effects of Repetitive Paired Associative Stimulation in Dystonia
ClinicalTrials.gov study NCT01888926. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Transcranial Electrical Polarization to Treat Focal Hand Dystonia
ClinicalTrials.gov study NCT00106782. IPD Sharing: Not stated. Countries: 1. Publications: 3.
tDCS in Cervical Dystonia
ClinicalTrials.gov study NCT02180139. IPD Sharing: NO. Countries: 1. Publications: 3.
Botulinum Toxin Type A (Botox) for the Treatment of Cervical Dystonia and Upper Thoracic Muscular Pain
ClinicalTrials.gov study NCT00178945. IPD Sharing: Not stated. Countries: 1. Publications: 6.
Data from: Tactile and proprioceptive dysfunction differentiates cervical dystonia with and without tremor
Objective: To determine if different phenotypes of cervical dystonia (CD) express different types and levels of somatosensory impairment. Methods: We assessed somatosensory function in CD patients with and without tremor (N=12 each) and in healthy age-matched controls (N=22) by measuring tactile temporal discrimination thresholds of the non-dystonic forearm, and proprioceptive acuity in both the dystonic (head/neck) and non-dystonic body segments (forearm/hand) using a joint position-matching task. The head or the wrist was passively displaced along different axes to distinct joint positions by the experimenter or through a robotic exoskeleton. Participants actively reproduced the experienced joint position and the absolute joint position matching error between target and the reproduced positions served as a marker of proprioceptive acuity. Results: Tactile temporal discrimination thresholds were significantly elevated in both CD subgroups when compared to controls. Proprioceptive acuity of both the dystonic and non-dystonic body segments was elevated in patients with CD and tremor with respect to both healthy controls and patients with CD without tremor. That is, tactile abnormalities were a shared dysfunction of both CD phenotypes, while proprioceptive dysfunction was observed in CD patients with tremor. Conclusions: Our findings suggest that the pathophysiology in CD can be characterized by two abnormal neural processes: First, a dysfunctional somatosensory gating mechanism involving the basal ganglia that triggers involuntary muscle spasms. Second, abnormal processing of proprioceptive information within a defective cortico-cerebellar loop, likely affecting the feedback and feedforward control of head positioning. This dysfunction is mainly expressed in CD with tremor.
Data from: Thalamic volume is reduced in cervical and laryngeal dystonias
Background: Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable insights into the pathophysiology of dystonia, but few directly assessed the gross volume of motor control regions, and to our knowledge, none identified abnormalities common to multiple types of idiopathic focal dystonia. Methods: We used two gross volumetric segmentation techniques and one voxelwise volumetric technique (voxel based morphometry, VBM) to compare regional volume between matched healthy controls and patients with idiopathic primary focal dystonia (cervical, n = 17, laryngeal, n = 7). We used (1) automated gross volume measures of eight motor control regions using the FreeSurfer analysis package; (2) blinded, anatomist-supervised manual segmentation of the whole thalamus (also gross volume); and (3) voxel based morphometry, which measures local T1-weighted signal intensity and estimates gray matter density or volume at the level of single voxels, for both whole-brain and thalamus. Results: Using both automated and manual gross volumetry, we found a significant volume decrease only in the thalamus in two focal dystonias. Decreases in whole-thalamic volume were independent of head and brain size, laterality of symptoms, and duration. VBM measures did not differ between dystonia and control groups in any motor control region. Conclusions: Reduced thalamic gross volume, detected in two independent analyses, suggests a common anatomical abnormality in cervical dystonia and spasmodic dysphonia. Defining the structural underpinnings of dystonia may require such complementary approaches.
Data from: Predictors of alcohol responsiveness in dystonia
Objective: To determine predictors of alcohol responsiveness in a large cohort of dystonia patients. Methods: 2159 participants with dystonia were prospectively enrolled in the cross-sectional Dystonia Coalition multicenter study. Patients with secondary, combined or confirmed genetic dystonia (total n=164) or unknown alcohol responsiveness (n= 737) were excluded. Patients answered a standardized questionnaire and were clinically examined using a standardized video protocol and the Burke-Fahn-Marsden Dystonia Rating Scale. Alcohol responsiveness was determined by patients' self-report. Results: 1258 patients with isolated dystonia (mean age: 59.5±12.2 years, female n=898) met the inclusion criteria; 369 patients (29.3%) reported improvement of dystonia after alcohol consumption. Alcohol responsiveness was not related to sex (p = .742), age (p = .715) or severity of dystonia (p = .623). Age at onset was lower in patients who responded to alcohol (p < .001). Alcohol responsiveness differed across dystonia subgroups (multifocal/generalized > segmental (p = .014); cervical and laryngeal > cranial and limb (p < .001)) and was related to a positive family history of movement disorders (p = .001), and presence of tremor (p < .001). Conclusion: The association of alcohol responsiveness with a positive family history for movement disorders, generalized dystonia, and an earlier age at onset suggests that dystonia patients with an underlying genetic contribution may be more likely to respond beneficially to alcohol. The fact that dystonic tremor may respond to alcohol is in keeping with the observation that the intake of GABAergic drugs may have a beneficial effect in a proportion of patients.
DYT-TUBB4A (DYT4 dystonia): new clinical and genetic observations
<p>Objective: To report four novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization.</p> <p>Background: DYT-TUBB4A, formerly known as DYT4, has only been described in one large family and two individual cases. The clinical picture highlighted in the original family comprises laryngeal and cervical dystonia extending to generalized dystonia, plus a "hobby horse" gait disorder. The variant identified as causative in the original family was a heterozygous missense mutation R2G in exon 1 of the TUBB4A gene.</p> <p>Methods: We screened four families including a total of eleven definitely affected members with a clinical picture resembling the original description.</p> <p>Results: Four novel variants in the TUBB4A gene have been identified: D295N, R46M, Q424H, R121W. In silico modeling showed that all variants have similar characteristics to R2G. The variants segregate with the disease in three of the families with evidence of incomplete penetrance in two of them. All four variants would be classified as likely pathogenic. The clinical picture particularly included laryngeal dystonia (often the site of onset), associated with cervical and upper limb dystonia and frequent generalization. Laryngeal dystonia was extremely prevalent (>90%) both in the original cases and in this case series. The "hobby horse" gait was evident in only one patient in this case series. Interpretation: laryngeal involvement is a hallmark feature of DYT-TUBB4A. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia.</p>
Datset related to article "AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism"
<p>Sanger sequences (.abi files) validating variants found with whole exome sequencing</p>
Efficacy of Levetiracetam in Oromandibular and Cranial Dystonia
ClinicalTrials.gov study NCT02199509. IPD Sharing: Not stated. Countries: 1. Publications: 0.
MINGO Supplemental Trial in X-linked Dystonia-Parkinsonism Patients
ClinicalTrials.gov study NCT03019458. IPD Sharing: NO. Countries: 1. Publications: 0.
Pathophysiology of Focal Hand Dystonia
ClinicalTrials.gov study NCT03223623. IPD Sharing: YES. Countries: 1. Publications: 0.
Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives
ClinicalTrials.gov study NCT00082615. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Plasticity in Cervical Dystonia
ClinicalTrials.gov study NCT00323765. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Neuromuscular Electrical Stimulation for Jaw-closing Dystonia
ClinicalTrials.gov study NCT03889704. IPD Sharing: NO. Countries: 1. Publications: 0.
Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia
ClinicalTrials.gov study NCT00169403. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Efficacy and Safety of Radiofrequency Pallidotomy in the Management of Dystonia
ClinicalTrials.gov study NCT06038097. IPD Sharing: YES. Countries: 1. Publications: 0.
A Phase 2 Study to Evaluate the Safety and Efficacy of ABP-450 in the Treatment of Cervical Dystonia
ClinicalTrials.gov study NCT04849988. IPD Sharing: NO. Countries: 1. Publications: 0.
fMRI Studies of Task Specificity in Focal Hand Dystonia
ClinicalTrials.gov study NCT00310414. IPD Sharing: Not stated. Countries: 1. Publications: 3.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.