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Dystonia

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41. Network localization of cervical dystonia based on causal brain lesions. Full Text available with Trip Pro

Network localization of cervical dystonia based on causal brain lesions. Cervical dystonia is a neurological disorder characterized by sustained, involuntary movements of the head and neck. Most cases of cervical dystonia are idiopathic, with no obvious cause, yet some cases are acquired, secondary to focal brain lesions. These latter cases are valuable as they establish a causal link between neuroanatomy and resultant symptoms, lending insight into the brain regions causing cervical dystonia (...) and possible treatment targets. However, lesions causing cervical dystonia can occur in multiple different brain locations, leaving localization unclear. Here, we use a technique termed 'lesion network mapping', which uses connectome data from a large cohort of healthy subjects (resting state functional MRI, n = 1000) to test whether lesion locations causing cervical dystonia map to a common brain network. We then test whether this network, derived from brain lesions, is abnormal in patients

2019 Brain

42. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. (Abstract)

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole (...) genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in all three affected patients, but exercise-induced dystonia persisted into adulthood in two. Furthermore, we identified three additional sporadic paediatric patients with a remarkably similar phenotype

2019 Brain

43. Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia. (Abstract)

Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia. OBJECTIVESurgical procedures involving deep brain stimulation (DBS) of the globus pallidus internus (GPi) or subthalamic nucleus (STN) are well-established treatments for isolated dystonia. However, selection of the best stimulation target remains a matter of debate. The authors' objective was to compare the effectiveness of DBS of the GPi and the STN in patients with isolated (...) dystonia.METHODSIn this matched retrospective cohort study, the authors searched an institutional database for data on all patients with isolated dystonia who had undergone bilateral implantation of DBS electrodes in either the GPi or STN in the period from January 30, 2014, to June 30, 2017. Standardized assessments of dystonia and health-related quality of life using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and SF-36 were conducted before and at 1, 6, and 12 months after surgery. No patients were

2019 Journal of Neurosurgery

44. Focal limb dystonia caused by a complication of the cerebellar developmental venous anomaly: a case report. Full Text available with Trip Pro

Focal limb dystonia caused by a complication of the cerebellar developmental venous anomaly: a case report. There are no established theories regarding the role of the cerebellum in dystonia. We report a case of focal limb dystonia secondary to a vasogenic edema of the dentate nucleus caused by a symptomatic developmental venous anomaly.A 44-year-old woman presented with sudden onset dystonia in her left arm for 1 week. Brain imaging revealed vasogenic edema in the deep white matter of the left (...) an important role in the development of dystonia. Further studies are needed to elucidate the relationship between dystonia and cerebellar dysfunction.

2019 BMC Neurology

45. A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. Full Text available with Trip Pro

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

46. Dystonia and dopamine: From phenomenology to pathophysiology. Full Text available with Trip Pro

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

47. Long-Term Specialized Physical Therapy in Cervical Dystonia: Outcomes of a Randomized Controlled Trial. (Abstract)

Long-Term Specialized Physical Therapy in Cervical Dystonia: Outcomes of a Randomized Controlled Trial. To evaluate the effectiveness of a specialized physical therapy (SPT) program on disability in cervical dystonia (CD) compared to regular physical therapy (RPT).A single-blinded randomized controlled trial.This study was performed by a physical therapist in a primary health care setting. Measurements were performed at baseline, 6 and 12 months in the botulinum toxin (BoNT) outpatient clinic

2019 Archives of physical medicine and rehabilitation Controlled trial quality: predicted high

48. OnabotulinumtoxinA and cognitive behavioral therapy in functional dystonia: A pilot randomized clinical trial. (Abstract)

OnabotulinumtoxinA and cognitive behavioral therapy in functional dystonia: A pilot randomized clinical trial. Functional dystonia (FD) is a disabling movement disorder with limited therapeutic options. We aimed to examine the efficacy and safety of chemodenervation with OnabotulinumtoxinA (BoNT) versus placebo prior to cognitive behavioral therapy (CBT) in FD patients.FD patients with a Psychogenic Movement Disorders Rating Scale (PMDRS) score ≥ 10 and persistent dystonic posturing for ≥ 1

2019 Parkinsonism & related disorders Controlled trial quality: uncertain

49. A randomized study of botulinum toxin versus botulinum toxin plus physical therapy for treatment of cervical dystonia. (Abstract)

A randomized study of botulinum toxin versus botulinum toxin plus physical therapy for treatment of cervical dystonia. Physical therapy (PT) for cervical dystonia is not well studied, and the underlying physiological effects are not known.We enrolled 26 subjects comprising of 16 cervical dystonia and 10 healthy controls for normative physiological data. We randomized cervical dystonia patients who reported suboptimal benefits on botulinum toxin (BoNT) injections to BoNT alone (BoNT arm) or BoNT (...) is a potential adjunct in patients with cervical dystonia who report suboptimal benefits with BoNT therapy. PT related benefits in cervical dystonia are likely mediated through modulation of sensorimotor plasticity.Copyright © 2019 Elsevier Ltd. All rights reserved.

2019 Parkinsonism & related disorders Controlled trial quality: uncertain

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

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. Visual sensory processing is altered in myoclonus dystonia. (Abstract)

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

52. Cortical network fingerprints predict deep brain stimulation outcome in dystonia. Full Text available with Trip Pro

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

53. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. (Abstract)

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

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

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

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

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

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

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

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

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

58. Voice and swallowing dysfunction in X-linked dystonia parkinsonism. (Abstract)

Voice and swallowing dysfunction in X-linked dystonia parkinsonism. To systematically characterize and describe voice and swallowing manifestations in patients with X-linked dystonia parkinsonism (XDP) and correlate with quality-of-life (QOL) measures.Thirty-four patients with XDP with communication and swallowing difficulties underwent neurological examination, head and neck examination, nasopharyngoscopy, QOL surveys (Swallowing Quality of Life questionnaire [SWAL-QOL] and Voice Handicap (...) voice breaks) or stridor (32%), as well as velopharyngeal insufficiency (20%), were also identified. Of the patients with laryngeal symptoms, 18% had respiratory dystonia. Swallowing assessments showed significant abnormalities in oral bolus control and oropharyngeal dysphagia. FEES examinations showed that 87.5% of the study group had penetration or aspiration. QOL scores showed an average VHI of 94.4 (severe dysfunction), and SWAL-QOL showed an average of 37.7 (severe dysfunction).Swallowing

2019 Laryngoscope

59. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. (Abstract)

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT)n repeat within the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP. Here we investigate the role of this hexanucleotide repeat in modifying expressivity of XDP.We genotyped the hexanucleotide repeat in 355 XDP (...) patients and correlated the repeat number (RN) with AAO (n = 295), initial clinical manifestation (n = 294), site of dystonia onset (n = 238), disease severity (n = 28), and cognitive function (n = 15). Furthermore, we investigated i) repeat instability by segregation analysis and Southern blotting using postmortem brain samples from two affected individuals and ii) relative TAF1 expression in blood RNA from 31 XDP patients.RN showed significant inverse correlations with AAO and with TAF1 expression

2019 Annals of Neurology

60. Top-down alteration of functional connectivity within the sensorimotor network in focal dystonia. (Abstract)

Top-down alteration of functional connectivity within the sensorimotor network in focal dystonia. To determine the directionality of regional interactions and influences of one region on another within the functionally abnormal sensorimotor network in isolated focal dystonia.A total of 40 patients with spasmodic dysphonia with and without dystonic tremor of voice and 35 healthy controls participated in the study. Independent component analysis (ICA) of resting-state fMRI was used to identify 4 (...) , putamen, and bilateral premotor cortex in all patients compared to controls, pointing to a largely overlapping pathophysiology of focal dystonia and dystonic tremor. DCM determined that the disruption of the sensorimotor network was both top-down, involving hyperexcitable parieto-putaminal influence, and interhemispheric, involving right-to-left hyperexcitable premotor coupling in all patients compared to controls. These regional alterations were associated with their abnormal self-inhibitory function

2019 Neurology

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