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Dystonia - Europe PMC

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Last Updated: 25 July 2022

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Variation in TAF1 expression in female carrier induced pluripotent stem cells and human brain ontogeny has implications for adult neostriatum vulnerability in X-linked Dystonia Parkinsonism.

Dystonia-Parkinsonism, an inherited, X-linked, adult-onset movement disorder characterized by degeneration of the neostriatum, is a genetic, X-linked, adult-onset movement disorder characterized by degeneration in the neostriatum. SINE-VNTR-Alu retrotransposon insert is made within intron 32 of TAF1; a subunit of TFIID involved in transcription initiation, and a disease-specific SINE-VNTR-Alu retrotransposon integration occurs within intron 32 of TAF1. While all XDP males are generally impaired, females are heterozygous carriers with few symptoms demonstrating the full syndrome. We characterized eight iPSC lines from three XDP female carrier individuals for X chromosome inactivation status and identified clonal lines that represent either the wild-type X or XDP haplotype as a tool for disease modeling. In addition, we characterized XDP-relevant transcript expression in neurotypical humans, finding that SVA-F expression decreases after 30 years of age in the brain and that TAF1 is reduced in most female samples. We hypothesize that the reduced TAF1 expression in the adult caudate may synergize with the XDP-specific partial absence of TAF1 function in patients, thus setting a minimum threshold of TAF1 function and triggering degeneration in the neostriatum. XDP is an inherited, X-linked, adult-onset movement disorder characterized by degeneration in the neostriatum. Although most XDP males are affected, females are heterozygous carriers with no signs of showing the full syndrome. We characterized eight stem cell lines from XDP female carrier individuals as a source for disease modeling. In addition, we discovered that TAF1 expression decreases after adolescence in healthy humans, specifically in the caudate nucleus. In general, we hypothesize that TAF1's decline after adolescence in human caudate may have contributed to the adult neostriatum in XDP's vulnerability.

Source link: https://europepmc.org/article/MED/35868859


Comparison of Botulinum neurotoxin efficiency in dystonia associated with Parkinson's disease and atypical parkinsonism: a retrospective study with a self-reported improvement scale.

There are no studies on BoNT's effectiveness in Parkinson's disease or atypical parkinsonism in these pathologies, and no comparison of BoNT's effectiveness in these conditions has been made between these diseases and the different localizations of dystonia in those pathologies is available. The results of 611 BoNT injections in 63 dystonic parkinsonian patients using a self-reported medical improvement scale and duration of effect were retrospectively collected from patients' medical records. On a scale from 0 to 100, patients with PD and AP experience a mean increase of 69% and 55% after BoNT injection, and it is similar for both orthoclinical and AP populations. Overall, our findings support the use of BoNT in the various dystonic conditions associated with degenerative parkinsonian syndromes. This trial was published on Clinicaltrial. gov. In AP, shorter delays between injection sessions should be considered in comparison to PD.

Source link: https://europepmc.org/article/MED/35854137


The complex relationship between antibody titers and clinical outcome in botulinum toxin type A long-term treated patients with cervical dystonia.

The relationship between NABs and STF is also uncertain. Aim of the study was to show that a significant improvement can be seen in patients with STF following abo- or onaBoNT/A-treatment, as well as those in NAB-positive patients without STF abo- or onaBoNT/A-treatment can be sustained without significant worsening, while others with STF should continue without significant increase. Methods Paralysis times of the mouse hemidiaphragm assay and clinical outcomes were determined in 60 patients with cervical dystonia and STF after a rise or decline in aBoNT/A-treatment who were switched to incobotulinumtoxin type A. In addition, PTs and TSUI-scores were followed up more than seven years in nine patients with NABs, but without STF, they were switched to inco-BoNT/A and nine other patients with NABs who were not on their previous BoNT/A preparation. However, in some patients with NABs that do not have STF, BoNT/A-treatment can be carried out without significant improvement.

Source link: https://europepmc.org/article/MED/35842881


Disordered network structure and function in dystonia: Pathological connectivity vs. adaptive responses

Primary dystonia is thought to have arisen by abnormal functional links between basal ganglia and cerebellar motor circuits. We found similar disease topographies in hereditary dystonia caused by the DYT1 or DYT6 mutations and in sporadic patients lacking these mutations using a network mapping software based on resting-state functional MRI, a device that is easily implemented on conventional MRI scanners. Despite these differences, network expression was closely related to dystonia motor ratings, dramatically raising the reliability of predictions based on thalamocortical tract integrity obtained with diffusion tensor MRI.

Source link: https://europepmc.org/article/PPR/PPR518564


Pearls & Oy-sters: SCA21 Due to TMEM240 Mutation Presenting as Myoclonus Dystonia Syndrome.

Spinocerebellar ataxia 21 due to TMEM240 genetic mutation, which occurs insidiously with a delay in language, motor, and social skill acquisition. We profile a patient with SCA21, who had myoclonus dystonia syndrome but whose dystonia had a modest reaction to levodopa. The TMEM240 mutation in patients with M-D syndrome underscores the importance of genetic testing in patients with M-D syndrome, as well as a trial of levodopa in patients with dystonia from SCA21.

Source link: https://europepmc.org/article/MED/35803720


The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes.

Purpose of review We describe here how such mechanisms shared by various genetic variations may lead to motor dysfunctions with a clinical manifestation of dystonia. Recent findings The growing body of dystonia syndromes has been transforming our perception of these disorders. The functional association of dystonia genes may have the ability to transform current dystonia classification schemes by identifying patients with different monogenic forms based on common pathways.

Source link: https://europepmc.org/article/MED/35856917


Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and long term follow-up.

Purpose of research Deep brain stimulation is the most recent treatment for medically refractory dystonia, with globus pallidus internus being the most appropriate target. The recognition of differential DBS involvement in monogenic dystonia, increased exposure with subthalamic nucleus DBS and in DBS for Meige syndrome, elucidation of DBS side effects, and novel imaging techniques to aid in predicting clinical outcome were among the latest findings. Improved knowledge of the causes contributing to the variability of DBS outcomes in dystonia can help with patient selection and predicting surgical outcomes.

Source link: https://europepmc.org/article/MED/35787538


Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings.

Background and purpose Structural magnetic resonance imaging techniques have been used in neurological disorders to help visualize tissue changes, probing characteristics such as volume, iron deposition, and diffusion. This paper seeks to give an overview of the scientific methods used in structural brain imaging of dystonia cohorts and help identify commonly identified pathways, networks, or regions that are implicated in pathogenesis. Methods were systematically reviewed in a systematic way by structural magnetic resonance imaging studies of idiopathic and genetic variants of dystonia. The bulk of studies used diffusion tensor imaging or volumetric techniques, with frequently implicated areas of abnormality in the brainstem, cerebellum, basal ganglia, and sensorimotor cortex and their interconnecting white matter pathways. Discussion Work to date indicates microstructural brain changes in those diagnosed with dystonia, but the underlying cause of these changes remains uncertain.

Source link: https://europepmc.org/article/MED/35785410


Neural correlates of optimal deep brain stimulation for cervical dystonia.

Fifteen subjects with cervical dystonia and good outcome after pallidal deep brain stimulation underwent resting-state functional magnetic resonance imaging under three conditions: stimulation using a priori clinically identified optimal settings, non-optimal settings, and stimulation off a treadmill. When this model contained four more patients with generalized or truncal dystonia, the relationship was stable.

Source link: https://europepmc.org/article/MED/35785489


OnabotulinumtoxinA Dosing, Disease Severity, and Treatment Benefit in Patients With Cervical Dystonia: A Cohort Analysis From CD PROBE.

Introduction The Cervical Dystonia Patient Registry for Observation of OnabotulinumtoxinA's Efficacy Study, a multicenter, prospective, observational registry, was developed to identify real-world practices and results for patients with cervical dystonia treated with onabotulinumtoxinA. CD PROBE's secondary study aims to determine the effect of presentation subtype on onabotA use and CD severity. Results Torticollis was the most common presentation subtype in the study cohort; the number of patients with torticollis was highest in those with severe disease. OnabotA dosing gradually increased from injection 1 to injection 3, with patients nau00efve to BoNT the first time. There were no notable treatment-related AEs or injection intervals between na00efve and non-na00efve patients; the most common AEs and injection intervals were similar between nau00efve vs. non-nau00eff patients; there were no significant treatment-related AEs.

Source link: https://europepmc.org/article/MED/35847221

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions