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Dystonia

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21. Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism Full Text available with Trip Pro

Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism X-linked dystonia-parkinsonism(XDP) is a neurodegenerative disorder endemic to the Philippines. A rating scale was developed by the authors under the guidance of the Movement Disorder Society of the Philippines (MDSP) to assess XDP severity and progression, functional impact, and response to treatment in future clinical trials. Our main objective was to validate our new scale, the XDP (...) -MDSP scale. The initial validation process included pragmatic testing to XDP patients followed by a modified Delphi procedure with an international advisory panel of dystonia, parkinsonism and scale development experts. Pearson correlation was used to assess construct validity of our new scale versus the assess construct validity of our new scale versus standard dystonia, parkinsonism, non-motor and functional scales; and also to assess divergent validity against behavioral and cognitive scales

2017 NPJ Parkinson's disease

22. Providing an imputation algorithm for missing values of longitudinal data using Cuckoo search algorithm: A case study on cervical dystonia Full Text available with Trip Pro

Providing an imputation algorithm for missing values of longitudinal data using Cuckoo search algorithm: A case study on cervical dystonia Missing values in data are found in a large number of studies in the field of medical sciences, especially longitudinal ones, in which repeated measurements are taken from each person during the study. In this regard, several statistical endeavors have been performed on the concepts, issues, and theoretical methods during the past few decades.Herein, we (...) focused on the missing data related to patients excluded from longitudinal studies. To this end, two statistical parameters of similarity and correlation coefficient were employed. In addition, metaheuristic algorithms were applied to achieve an optimal solution. The selected metaheuristic algorithm, which has a great search functionality, was the Cuckoo search algorithm.Profiles of subjects with cervical dystonia (CD) were used to evaluate the proposed model after applying missingness

2017 Electronic physician

23. The Frequency and Self‐perceived Impact on Daily Life of Motor and Non‐motor Symptoms in Cervical Dystonia Full Text available with Trip Pro

The Frequency and Self‐perceived Impact on Daily Life of Motor and Non‐motor Symptoms in Cervical Dystonia Evidence suggests that non-motor symptoms (NMS) are the most important predictors of decreased health-related quality of life (HR-QoL) in patients with cervical dystonia (CD). In this study, we evaluate an NMS screening list and examine the influence of motor symptoms and NMS on HR-QoL.In 40 patients with CD, the frequency of NMS was evaluated using an extended NMS questionnaire (...) . Several domains of HR-QoL were significantly influenced by NMS, whereas motor symptoms had only a small influence on the physical functioning domain of HR-QoL.Our findings highlight the impact of NMS on HR-QoL and emphasize the importance of a standardized, validated NMS questionnaire for patients with dystonia. This would enable us to monitor the effect of treatment for motor symptoms and NMS on an individual basis and improve treatment options.

2017 Movement disorders clinical practice

24. Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache

Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache | Neurology Advertisement Search for this keyword Main menu User menu Search Search for this keyword The most widely read and highly cited peer-reviewed neurology journal Share May 10, 2016 ; 86 (19) Special Article Practice guideline update summary (...) : Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache Report of the Guideline Development Subcommittee of the American Academy of Neurology David M. Simpson , Mark Hallett , Eric J. Ashman , Cynthia L. Comella , Mark W. Green , Gary S. Gronseth , Melissa J. Armstrong , David Gloss , Sonja Potrebic , Joseph Jankovic , Barbara P. Karp , Markus Naumann , Yuen T. So , Stuart A. Yablon First published April 18, 2016, DOI: https://doi.org/10.1212/WNL

2016 American Academy of Neurology

25. Neurostimulation in tardive dystonia/dyskinesia: A delayed start, sham stimulation-controlled randomized trial. (Abstract)

Neurostimulation in tardive dystonia/dyskinesia: A delayed start, sham stimulation-controlled randomized trial. Growing evidence suggests that pallidal deep brain stimulation represents a potential new therapeutic avenue in tardive dystonia/dyskinesia, but controlled and blinded randomized studies (RCT) are missing. The present RCT compares dystonia/dyskinesia severity of pallidal neurostimulation in patients with tardive dystonia using a delayed-start design paradigm.Dystonia/dyskinesia (...) severity was assessed via blinded videos following pallidal neurostimulation at 3 (blinded phase) and 6 months (open extension phase). Primary endpoint was the percentage change of dystonia severity (Burke-Fahn-Marsden-Dystonia-Rating-Scale, BFMDRS) at 3 months between active vs. sham neurostimulation using blinded-video assessment. Secondary endpoints comprised clinical rating scores for movement disorders. Clinicaltrials.gov NCT00331669.Twenty-five patients were randomized (1:1) to active (n = 12

2019 Brain stimulation Controlled trial quality: uncertain

26. Deep brain stimulation for dystonia in Finland during 2007-2016. Full Text available with Trip Pro

Deep brain stimulation for dystonia in Finland during 2007-2016. Dystonia is a movement disorder substantially affecting the quality of life and the ability to work. A proportion of patients does not respond to first line pharmacotherapy. Deep brain stimulation (DBS) is established as a primary operative treatment option for severe drug resistant dystonia. We studied dystonia patients treated with DBS in Finland between the years 2007-2016 to evaluate the use and outcomes of DBS treatment.We (...) analysed the hospital records of dystonia patients, who underwent DBS operation during 2007-2016 in Finland. The clinical and technical parameters were recorded as well as preoperative assessments and treatments. The response to DBS was evaluated retrospectively using the Global Dystonia Rating Scale (GDS).Out of 585 dB implantations during the study period, 37 were done for dystonia. The clinical response improved significantly with time in the isolated focal dystonia group, and at 12 months, 22 of 32

2019 BMC Neurology

27. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. (Abstract)

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood-onset dystonia.To define the frequency of KMT2B mutations in a cohort of dystonic patients aged <18 years at onset, the associated clinical and radiological phenotype, and the natural history of disease.Whole-exome sequencing or customized gene panels were used (...) to screen a cohort of 65 patients who had previously tested negative for all other known dystonia-associated genes.We identified 14 patients (21.5%) carrying KMT2B variants, of which 1 was classified as a variant of unknown significance. We also identified 2 additional patients carrying pathogenic mutations in GNAO1 and ATM. Overall, we established a definitive genetic diagnosis in 23% of cases. We observed a spectrum of clinical manifestations in KMT2B variant carriers, ranging from generalized

2019 Movement Disorders

28. 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

29. 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

30. 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

31. 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

32. 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

33. 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

34. 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

35. 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

36. 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

37. 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

38. 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

39. 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

40. 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

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