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Dystonia

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41. A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. (PubMed)

A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. Manganese is a critical trace element that not only has antioxidant properties, but also is essential for various metabolic pathways and neurotransmitters production. However, it can be toxic at high levels, particularly in the central nervous system. Manganese intoxication can be acquired, but an inherited form due to autosomal-recessive mutations (...) in the SLC30A10 gene encoding a Mn transporter protein has also been reported recently. These mutations are associated with significant failure of manganese excretion and its storage in the liver, brain (especially basal ganglia), and other peripheral tissues, resulting in toxicity.A 10-year-old boy from consanguineous parents presented with a history of progressive truncal instability, gait difficulty, and frequent falls for 2 months. He had dystonia, rigidity, ataxia, dysarthria, bradykinesia

2019 BMC Pediatrics

42. Dystonia and dopamine: From phenomenology to pathophysiology. (PubMed)

Dystonia and dopamine: From phenomenology to pathophysiology. A line of evidence suggests that the pathophysiology of dystonia involves the striatum, whose activity is modulated among other neurotransmitters, by the dopaminergic system. However, the link between dystonia and dopamine appears complex and remains unclear. Here, we propose a physiological approach to investigate the clinical and experimental data supporting a role of the dopaminergic system in the pathophysiology of dystonic (...) syndromes. Because dystonia is a disorder of motor routines, we first focus on the role of dopamine and striatum in procedural learning. Second, we consider the phenomenology of dystonia from every angle in order to search for features giving food for thought regarding the pathophysiology of the disorder. Then, for each dystonic phenotype, we review, when available, the experimental and imaging data supporting a connection with the dopaminergic system. Finally, we propose a putative model in which

2019 Progress in Neurobiology

43. Clinical outcomes of pallidal deep brain stimulation for dystonia implanted using intraoperative MRI. (PubMed)

Clinical outcomes of pallidal deep brain stimulation for dystonia implanted using intraoperative MRI. Lead placement for deep brain stimulation (DBS) using intraoperative MRI (iMRI) relies solely on real-time intraoperative neuroimaging to guide electrode placement, without microelectrode recording (MER) or electrical stimulation. There is limited information, however, on outcomes after iMRI-guided DBS for dystonia. The authors evaluated clinical outcomes and targeting accuracy in patients (...) with dystonia who underwent lead placement using an iMRI targeting platform.Patients with dystonia undergoing iMRI-guided lead placement in the globus pallidus pars internus (GPi) were identified. Patients with a prior ablative or MER-guided procedure were excluded from clinical outcomes analysis. Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores and Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) scores were assessed preoperatively and at 6 and 12 months postoperatively. Other measures

2019 Journal of Neurosurgery

44. Can the Jankovic-assessment be used as an alternative to electromyography? A cross-sectional study on facial dystonia patients treated with Botulinum toxin. (PubMed)

Can the Jankovic-assessment be used as an alternative to electromyography? A cross-sectional study on facial dystonia patients treated with Botulinum toxin. This study aims to quantitatively compare the Jankovic assessment (JA) with electromyography (EMG)-based measures for assessing changes in facial movements in patients with facial dystonia.Thirteen patients (five males and eight females) affected with different forms of facial dystonia (hemifacial spasm and synkinesis) participated (...) with BTX.JA scores significantly correlated with more objective EMG-based measures, suggesting that the JA scale can be used to assess facial movement changes, for example elicited by a treatment such as BTX injection. Thus, in facial dystonia patients, the JA scale may be used for evaluating treatment outcomes as a valid and low-cost alternative to EMG.Copyright © 2019 Elsevier Inc. All rights reserved.

2019 American Journal of Otolaryngology

45. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. (PubMed)

Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene, which codes for the α-3 subunit of the Na+ /K+ ATPase. It has been characterized by rapid-onset bulbar dysfunction, limb dystonia, bradykinesia, and a rostrocaudal spatial gradient of expression, usually after a physiologic trigger. We reexamined whether these features were in fact characteristic.We characterized phenotypic (...) . Among those with at least mild symptoms of dystonia, rostrocaudal severity gradient was rare (7%). Symptoms began focally but progressed to be generalized (51%) or multifocal (49%). Arm (41%) onset was most common. Arms and voice were typically most severely affected (48% and 44%, respectively). Triggers preceded onset in 77% of the participants. Rapid onset, dystonia, parkinsonism, bulbar symptoms, headaches, seizures, frontal impairment, and a history of mood disorder and a history of psychosis

2019 Movement Disorders

46. Cortical network fingerprints predict deep brain stimulation outcome in dystonia. (PubMed)

Cortical network fingerprints predict deep brain stimulation outcome in dystonia. Deep brain stimulation (DBS) is an effective evidence-based therapy for dystonia. However, no unequivocal predictors of therapy responses exist. We investigated whether patients optimally responding to DBS present distinct brain network organization and structural patterns.From a German multicenter cohort of 82 dystonia patients with segmental and generalized dystonia who received DBS implantation in the globus (...) % of accuracy using individual gray-matter atrophy patterns to predict DBS outcomes.The analysis of cortical integrity, informed by group-level network properties, could be developed into independent predictors to identify dystonia patients who benefit from DBS. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.© 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International

2019 Movement Disorders

47. Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction. (PubMed)

Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction. Myoclonus-dystonia is a clinical syndrome characterized by a typical childhood onset of myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric symptomatology, namely, alcohol dependence and phobic and obsessive-compulsive disorder, is also part of the clinical picture. Zonisamide has demonstrated effectiveness at reducing both myoclonus and dystonia (...) , and deep brain stimulation seems to be an effective and long-lasting therapeutic option for medication-refractory cases. In a subset of patients, myoclonus-dystonia is associated with pathogenic variants in the epsilon-sarcoglycan gene, located on chromosome 7q21, and up to now, more than 100 different pathogenic variants of the epsilon-sarcoglycan gene have been described. In a few families with a clinical phenotype resembling myoclonus-dystonia associated with distinct clinical features, variants

2019 Movement Disorders

48. Pallidal low-frequency activity in dystonia after cessation of long-term deep brain stimulation. (PubMed)

Pallidal low-frequency activity in dystonia after cessation of long-term deep brain stimulation. This study investigates the association between pallidal low-frequency activity and motor sign severity in dystonia after chronic deep brain stimulation for several months.Local field potentials were recorded in 9 dystonia patients at 5 timepoints (T1-T5) during an OFF-stimulation period of 5 to 7 hours in parallel with clinical assessment using Burke-Fahn-Marsden Dystonia Rating Scale. A linear (...) mixed effects model was used to investigate the potential association of motor signs with local field potential activity in the low frequency (3-12 Hz) and beta range (13-30 Hz).A significant association of Burke-Fahn-Marsden Dystonia Rating Scale scores with low-frequency activity (3-12 Hz; b = 4.4; standard error = 1.5, degrees of freedom = 43, P = 0.006, 95% confidence interval, 1.3-7.5), but not beta activity (13-30 Hz) was revealed within participants across timepoints.Low-frequency activity

2019 Movement Disorders

49. Visual sensory processing is altered in myoclonus dystonia. (PubMed)

Visual sensory processing is altered in myoclonus dystonia. Abnormal sensory processing, including temporal discrimination threshold, has been described in various dystonic syndromes.To investigate visual sensory processing in DYT-SGCE and identify its structural correlates.DYT-SGCE patients without DBS (DYT-SGCE-non-DBS) and with DBS (DYT-SGCE-DBS) were compared to healthy volunteers in three tasks: a temporal discrimination threshold, a movement orientation discrimination, and movement speed

2019 Movement Disorders

50. Ten-Year Reflections on the Neurophysiological Abnormalities of Focal Dystonias in Humans. (PubMed)

Ten-Year Reflections on the Neurophysiological Abnormalities of Focal Dystonias in Humans. The physiological landscape of dystonia has changed considerably over the past 10 years. Initial ideas that dystonic motor symptoms could be explained by a combination of loss of inhibition and increased plasticity, together with subtle deficits in sensory processing, have been questioned, whereas the possible role of the cerebellum has risen in importance. In addition, it has been recognized (...) that symptoms affect more than just the motor and sensory systems and encompass independent cognitive and psychological changes. Finally, it has become clear that, despite similarities in symptoms, there may be pathophysiological differences between idiopathic, inherited, and acquired forms of dystonia. In other words, progress in the pathophysiology of dystonia has followed the usual pattern from an initial phase in which core deficits are readily explained by highly simplified models to a realization

2019 Movement Disorders

51. Continuous intrathecal baclofen (ITB) infusion for severe spasticity and dystonia

Continuous intrathecal baclofen (ITB) infusion for severe spasticity and dystonia Continuous intrathecal baclofen (ITB) infusion for severe spasticity and dystonia Continuous intrathecal baclofen (ITB) infusion for severe spasticity and dystonia Malaysian Health Technology Assessment (MaHTAS) Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database (...) . Citation Malaysian Health Technology Assessment (MaHTAS). Continuous intrathecal baclofen (ITB) infusion for severe spasticity and dystonia. Putrajaya: Malaysian Health Technology Assessment (MaHTAS). 2014 Authors' objectives To assess the safety, effectiveness, cost-effectiveness, organizational issues related to the use of continuous ITB infusion for treatment of patients with severe spasticity or severe dystonia or having both conditions compared with conventional treatment. Authors' conclusions

2014 Health Technology Assessment (HTA) Database.

52. IncobotulinumtoxinA (XEOMIN), injection of, for blepharospasm, cervical dystonia (spasmodic torticollis) and post-stroke spasticity of the upper limb

IncobotulinumtoxinA (XEOMIN), injection of, for blepharospasm, cervical dystonia (spasmodic torticollis) and post-stroke spasticity of the upper limb IncobotulinumtoxinA (XEOMIN), injection of, for blepharospasm, cervical dystonia (spasmodic torticollis) and post-stroke spasticity of the upper limb IncobotulinumtoxinA (XEOMIN), injection of, for blepharospasm, cervical dystonia (spasmodic torticollis) and post-stroke spasticity of the upper limb Medical Services Advisory Committee Record Status (...) This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation Medical Services Advisory Committee. IncobotulinumtoxinA (XEOMIN), injection of, for blepharospasm, cervical dystonia (spasmodic torticollis) and post-stroke spasticity of the upper limb. Canberra: Medical Services Advisory Committee (MSAC). MSAC application 1379. 2014 Authors' objectives Blepharospasm is a chronic progressive disorder, defined

2014 Health Technology Assessment (HTA) Database.

53. The Symptomatic Treatment of Acquired Dystonia: A Systematic Review (PubMed)

The Symptomatic Treatment of Acquired Dystonia: A Systematic Review Acquired dystonia is caused by an acquired or exogenous event. Although the therapeutic armamentarium used in clinical practice is more or less similar to that used for inherited or idiopathic dystonia, formal proof of the efficacy of these interventions in acquired dystonia is lacking.The authors attempt to provide a comprehensive and systematic review of the current evidence for medical and allied health care treatment (...) strategies in acquired dystonias. The PubMed, Cochrane Library, MEDLINE, Web of Science, PiCarta, and PsycINFO databases were searched up to December 2015, including randomized controlled trials, patient-control studies, and case series or single case reports containing a report on clinical outcome.There are level 3 practice recommendations for botulinum toxin injections and globus pallidus pars interna deep brain stimulation for tardive dystonia and dystonic cerebral palsy as well as intrathecal

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2016 Movement disorders clinical practice

54. Deep brain stimulation in dystonia: is it a long-term effective and safe treatment?

Deep brain stimulation in dystonia: is it a long-term effective and safe treatment? Deep brain stimulation in dystonia: is it a long-term effective and safe treatment? | JNNP blog by In the November issue of JNNP, Meoni and colleagues have published an interesting observational retrospective study exploring the long-term effect of pallidal deep brain stimulation (DBS) on motor and functional disability in patients with idiopathic, inherited and acquired dystonia. DBS is a neuromodulatory (...) strategy base on a brain implanted electronic device used to modulate the neuronal functioning in a particular brain region or network. DBS of the globus pallidus internus (Gpi) has been demonstrated to be an effective treatment that improves motor symptoms and disability in patients with idiopathic and inherited dystonia. However, DBS has been suggested to be less effective in acquired dystonia. Until now, the long-term efficacy and safety of DBS in patients with idiopathic, inherited and acquired

2017 JNNP blog

55. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability | JMG Contact blog by Hyperphenylalaninemia is one of the most common inherited metabolic diseases diagnosed in the newborn screening and until now follow-up investigation included differential diagnosis

2017 JMG Contact blog

56. Does dystonic muscle activity affect sense of effort in cervical dystonia? (PubMed)

Does dystonic muscle activity affect sense of effort in cervical dystonia? Focal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD). We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues.Neck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects

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2017 PLoS ONE

57. Ranking of Dystonia Severity by Pairwise Video Comparison (PubMed)

Ranking of Dystonia Severity by Pairwise Video Comparison Reviewers of dystonia rating scales agree on the need to assess symptoms more comprehensively. During the development of a quantitative dystonia assessment by video-perceptive computing, we devised a video-based severity ranking as a procedure to create a validation standard without the use of clinical scales.Thirty-four patients with dystonia (17 with dystonic tremor) and 2 controls were assessed with clinical scales and video (...) . This supports video-based ranking as a more comprehensive rating of dystonia and as a possible validation instrument applicable in situations in which no reference standard is available.

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2016 Movement disorders clinical practice

58. Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism‐Dystonia (PubMed)

Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism‐Dystonia Parkinsonism-dystonia is rare in carriers of PRNP P102L mutation. Severity and distribution of prion protein (PrP) deposition may influence the clinical presentation. We present such clinic-pathological correlation in a 56-year-old male with a PRNP P102L mutation associated with a phenotype characterized by rapidly progressing parkinsonism-dystonia. The patient was studied clinically (...) (videotaped exams, brain MRIs); molecular genetically (gene sequence analysis); and neuropathologically (histology, immunohistochemistry) during his 7-month disease course. The patient had parkinsonism, apraxia, aphasia, and dystonia, which progressed rapidly. Molecular genetic analysis revealed PRNP P102L mutation carrier status. Brain MRIs revealed progressive global volume loss and T2/FLAIR hyperintensity in neocortex and basal ganglia. Postmortem examination showed neuronal loss, gliosis, spongiform

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2016 Movement disorders clinical practice

59. Deep brain stimulation in dystonia: is it a long-term effective and safe treatment?

Deep brain stimulation in dystonia: is it a long-term effective and safe treatment? Deep brain stimulation in dystonia: is it a long-term effective and safe treatment? | JNNP blog by In the November issue of JNNP, Meoni and colleagues have published an interesting observational retrospective study exploring the long-term effect of pallidal deep brain stimulation (DBS) on motor and functional disability in patients with idiopathic, inherited and acquired dystonia. DBS is a neuromodulatory (...) strategy base on a brain implanted electronic device used to modulate the neuronal functioning in a particular brain region or network. DBS of the globus pallidus internus (Gpi) has been demonstrated to be an effective treatment that improves motor symptoms and disability in patients with idiopathic and inherited dystonia. However, DBS has been suggested to be less effective in acquired dystonia. Until now, the long-term efficacy and safety of DBS in patients with idiopathic, inherited and acquired

2017 JNNP blog

60. Tiagabine treatment in kainic acid induced cerebellar lesion of dystonia rat model (PubMed)

Tiagabine treatment in kainic acid induced cerebellar lesion of dystonia rat model Dystonia is a neurological disorder characterized by excessive involuntary muscle contractions that lead to twisting movements. The exaggerated movements have been studied and have implicated basal ganglia as the point of origin. In more recent studies, the cerebellum has also been identified as the possible target of dystonia, in the search for alternative treatments. Tiagabine is a selective GABA transporter (...) inhibitor, which blocks the reuptake and recycling of GABA. The study of GABAergic drugs as an alternative treatment for cerebellar induced dystonia has not been reported. In our study, tiagabine was i.p. injected into kainic acid induced, cerebellar dystonic adult rats, and the effects were compared with non-tiagabine injected and sham-operated groups. Beam walking apparatus, telemetric electromyography (EMG) recording, and histological verification were performed to confirm dystonic symptoms

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2016 EXCLI journal

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