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Dystonia

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81. Non-Motor Features of Cervical Dystonia (CD)

Non-Motor Features of Cervical Dystonia (CD) Non-Motor Features of Cervical Dystonia (CD) - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Non-Motor Features of Cervical Dystonia (CD) The safety (...) for Clinical and Translational Research Information provided by (Responsible Party): Mallory Hacker, Vanderbilt University Medical Center Study Details Study Description Go to Brief Summary: This study will examine the prevalence of four previously identified non-motor markers in a population of cervical dystonia patients, unaffected family members, and healthy volunteers in an attempt to identify a distinct combination of non-motor symptoms that may be indicative of disease development. Condition

2018 Clinical Trials

82. Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment. (Abstract)

Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment. Good short-term results of pallidal deep brain stimulation have been reported in myoclonus-dystonia. Efficacy and safety in the long term remain to be established. In addition, the actual impact of DBS treatment on social inclusion is unknown. The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with ε-sarcoglycan (...) (DYT11)-positive myoclonus-dystonia.Consecutive myoclonus-dystonia patients with ε-sarcoglycan mutations who underwent GPi-DBS were evaluated at least 5 years postoperatively. Motor symptoms were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale including the Disability Scale, a composite score combining the rest and action parts of the Unified Myoclonus Rating Scale and modified Abnormal Involuntary Movement Scale. Standardized video-protocols were assessed by a blinded and external

2018 Movement Disorders

83. Task-specificity in focal dystonia is shaped by aberrant diversity of a functional network kernel. Full Text available with Trip Pro

Task-specificity in focal dystonia is shaped by aberrant diversity of a functional network kernel. Task-specific focal dystonia selectively affects the motor control during skilled and highly learned behaviors. Recent data suggest the role of neural network abnormalities in the development of the pathophysiological dystonic cascade.We used resting-state functional MRI and analytic techniques rooted in network science and graph theory to examine the formation of abnormal subnetwork of highly (...) influential brain regions, the functional network kernel, and its influence on aberrant dystonic connectivity specific to affected body region and skilled motor behavior.We found abnormal embedding of sensorimotor cortex and prefrontal thalamus in dystonic network kernel as a hallmark of task-specific focal dystonia. Dependent on the affected body region, aberrant functional specialization of the network kernel included regions of motor control management in focal hand dystonia (writer's cramp, musician's

2018 Movement Disorders

84. Resting-state basal ganglia network codes a motor musical skill and its disruption From dystonia. Full Text available with Trip Pro

Resting-state basal ganglia network codes a motor musical skill and its disruption From dystonia. Musician's dystonia critically impacts professional musicians' careers as they may lose musical skills, which have been acquired through long and intensive training. Yet the pathophysiology of musician's dystonia and its link to the neural mechanisms supporting musical skills is poorly understood. We tested if resting-state functional connectivity might reflect an aspect of musical skill linked (...) to the pathophysiology of musician's dystonia. We also tested a second hypothesis that the region with altered resting-state functional connectivity might be correlated with a quantitative measure of musical skills.We studied 21 patients with musician's dystonia affecting their hands and 34 healthy musicians, using resting-state functional magnetic resonance imaging and behavioral assessment. We tested between-group differences of resting-state functional connectivity throughout the whole brain using independent

2018 Movement Disorders

85. A single case of MRI-guided focused ultrasound ventro-oral thalamotomy for musician's dystonia. (Abstract)

A single case of MRI-guided focused ultrasound ventro-oral thalamotomy for musician's dystonia. Musician's dystonia (MD) is a type of focal hand dystonia that develops only while playing musical instruments and interferes with skilled and fine movements. Lesioning of the ventro-oral (Vo) nucleus of the thalamus (Vo-thalamotomy) using radiofrequency can cause dramatic improvement in MD symptoms. Focused ultrasound (FUS) can make intracranial focal lesions without an incision. The authors used

2018 Journal of Neurosurgery

86. HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. (Abstract)

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. HPCA (hippocalcin) is one of the underlying genetic causes of autosomal-recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT-HPCA families carrying the novel HPCA mutations.After detailed clinical and neurological examination, whole-exome sequencing was performed.Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene (...) in two unrelated Turkish dystonia families presenting with complex dystonia.After identification of HPCA as a genetic cause of DYT-HPCA-like dystonia by Charlesworth et al, this is the second report in the scientific literature that describes dystonia families harboring HPCA mutations. Our findings confirm that HPCA leads to recessively inherited dystonia. © 2018 International Parkinson and Movement Disorder Society.© 2018 International Parkinson and Movement Disorder Society.

2018 Movement Disorders

87. Low-Dose Quetiapine in the Treatment of SSRI-Induced Bruxism and Mandibular Dystonia: Case Series Full Text available with Trip Pro

Low-Dose Quetiapine in the Treatment of SSRI-Induced Bruxism and Mandibular Dystonia: Case Series Objective: Selective serotonin reuptake inhibitors (SSRIs) have been the most widely used psychopharmacological agents prescribed for depression worldwide. Some adverse effects of SSRI drugs on central nervous system are insomnia and bruxism. These drugs also affect sleep. Quetiapine is used as adjunctive therapy to antidepressants for the treatment of major depressive disorder (MDD). It is a low (...) and mandibular dystonia, which are side effects of SSRIs.

2018 Iranian journal of psychiatry

88. Index Finger Pointing (Likely a Subtle Form of Hand Dystonia): Prevalence Across Movement Disorders Full Text available with Trip Pro

Index Finger Pointing (Likely a Subtle Form of Hand Dystonia): Prevalence Across Movement Disorders Objective: To investigate the prevalence of index finger pointing (IFP) while walking, which is likely a subtle form of hand dystonia, in cranio-cervical focal dystonia syndromes, Parkinson's disease (PD), essential tremor (ET), and controls. Methods: We recruited patients with an established diagnosis of PD, dystonia, or ET and healthy controls. All participants were videotaped while walking (...) . Videotapes were evaluated by the authors, blinded to diagnosis, to assess the presence or absence of IFP. Results: Two-hundred-fifty participants included 50 dystonia, 50 PD, 80 ET and 70 controls. IFP was present in 29/250 (11.6%) participants: 10 dystonia (20.0%), 8 PD (16.0%), 8 ET (10.0%), and 3 controls (3.8%) (p = 0.03). There was a significant evidence of a trend in the odds of having this sign among disorders with higher risk of dystonic features (dystonia>PD>ET>control; test for trend = 0.004

2018 Frontiers in neurology

89. Spectrum of practice in the routine management of cervical dystonia with abobotulinumtoxinA: findings from three prospective open-label observational studies Full Text available with Trip Pro

Spectrum of practice in the routine management of cervical dystonia with abobotulinumtoxinA: findings from three prospective open-label observational studies Cervical dystonia is a heterogeneous disorder with several possible presentations, for which first-line therapy is often botulinum toxin (BoNT). In routine clinical practice the success of each BoNT injection is dependent on several variables, including individual presentation and injection technique. Large multicenter, observational (...) studies provide important information on individualized administration strategies that cannot be otherwise ascertained from controlled clinical trials. In this meta-analysis of patient level data, we aimed to evaluate the clinical characteristics of patients with cervical dystonia undergoing routine treatment with botulinum toxin, specifically abobotulinumtoxinA. We also aimed to characterize current abobotulinumtoxinA injection techniques and parameters and to explore international differences

2018 Journal of clinical movement disorders

90. An Elderly Woman with Reversal of Clinical Presentation Mimicking Rapid-Onset Dystonia-Parkinsonism Full Text available with Trip Pro

An Elderly Woman with Reversal of Clinical Presentation Mimicking Rapid-Onset Dystonia-Parkinsonism 29971984 2018 11 14 1738-6586 14 3 2018 Jul Journal of clinical neurology (Seoul, Korea) J Clin Neurol An Elderly Woman with Reversal of Clinical Presentation Mimicking Rapid-Onset Dystonia-Parkinsonism. 423-425 10.3988/jcn.2018.14.3.423 Ahn Byoung June BJ Department of Neurology, Soonchunhyang University Gumi Hospital, Soonchunhyang University School of Medicine, Gumi, Korea. Kwon Kyum Yil KY

2018 Journal of clinical neurology (Seoul, Korea)

91. Changes in sensorimotor network activation after botulinum toxin type A injections in patients with cervical dystonia: a functional MRI study Full Text available with Trip Pro

Changes in sensorimotor network activation after botulinum toxin type A injections in patients with cervical dystonia: a functional MRI study Botulinum toxin type A (BoNT) is considered an effective therapeutic option in cervical dystonia (CD). The pathophysiology of CD and other focal dystonias has not yet been fully explained. Results from neurophysiological and imaging studies suggest a significant involvement of the basal ganglia and thalamus, and functional abnormalities in premotor (...) and primary sensorimotor cortical areas are considered a crucial factor in the development of focal dystonias. Twelve BoNT-naïve patients with CD were examined with functional MRI during a skilled hand motor task; the examination was repeated 4 weeks after the first BoNT injection to the dystonic neck muscles. Twelve age- and gender-matched healthy controls were examined using the same functional MRI paradigm without BoNT injection. In BoNT-naïve patients with CD, BoNT treatment was associated

2018 Experimental Brain Research

92. The Impairment of TorsinA's Binding to and Interactions With Its Activator: An Atomistic Molecular Dynamics Study of Primary Dystonia Full Text available with Trip Pro

The Impairment of TorsinA's Binding to and Interactions With Its Activator: An Atomistic Molecular Dynamics Study of Primary Dystonia Primary dystonia's prolonged muscle contractions and the associated abnormal postures and twisting movements remain incurable. Genetic mutation/deletion of GAG from TorsonA's gene resulting in ΔE303 (which weakens the binding between TorsinA and its activator, such as LULL1) primarily cause this neurodegenerative disorder. We studied TorsinA-LULL1 (...) build on previous findings and offer new insights for a better understanding of the molecular basis of Primary Dystonia. Our results have long-term potentials of guiding the development of medications for the disease.

2018 Frontiers in Molecular Biosciences

93. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome Full Text available with Trip Pro

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset.Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome.Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.

2018 Tremor and Other Hyperkinetic Movements

94. Electromyographic and Joint Kinematic Patterns in Runner’s Dystonia Full Text available with Trip Pro

Electromyographic and Joint Kinematic Patterns in Runner’s Dystonia Runner’s dystonia (RD) is a task-specific focal dystonia of the lower limbs that occurs when running. In this retrospective case series, we present surface electromyography (EMG) and joint kinematic data from thirteen patients with RD who underwent instrumented gait analysis (IGA) at the Functional and Biomechanics Laboratory at the National Institutes of Health. Four cases of RD are described in greater detail (...) to demonstrate the potential utility of EMG with kinematic studies to identify dystonic muscle groups in RD. In these cases, the methodology for muscle selection for botulinum toxin therapy and the therapeutic response is discussed. Lateral heel whip, a proposed novel presentation of lower-limb dystonia, is also described.

2018 Toxins

95. An unusual presentation of dystonia and chorea from intraventricular pneumocephalus Full Text available with Trip Pro

An unusual presentation of dystonia and chorea from intraventricular pneumocephalus Pneumocephalus is a common finding following intracranial procedures, typically asymptomatic and resolves within several days. However, in some cases, pneumocephalus presents with headache, encephalopathy, or symptoms of elevated intracranial pressure. Here, we present a case of iatrogenic tension pneumocephalus following endoscopic sinus surgery, presenting as abnormal involuntary movements resembling (...) a movement disorder with choreiform movements.A 67-year-old previously healthy male presented with new onset chorea and dystonia associated with headache, encephalopathy, and postural instability 4 days after undergoing endoscopic sinus surgery for chronic sinusitis and nasal polyps. Computed tomography showed prominent intraventricular pneumocephalus causing enlargement of the anterior horns of both lateral ventricles with lateral displacement of the basal ganglia nuclei and a bony defect in the skull

2018 Surgical neurology international

96. Youngest presenting patient with dystonia 24 and review of the literature Full Text available with Trip Pro

Youngest presenting patient with dystonia 24 and review of the literature Dystonia 24 was first reported in 2000 as an autosomal dominant cause of dystonia caused by variants in the ANO3 gene. Although many adults have been described with dystonia 24, since 2014, an increasing number of children have also been reported. Dystonia 24 should also be considered in the differential of a child with unexplained dystonia.

2018 Clinical Case Reports

97. A Computational Model of Deep-Brain Stimulation for Acquired Dystonia in Children Full Text available with Trip Pro

A Computational Model of Deep-Brain Stimulation for Acquired Dystonia in Children The mechanism by which deep brain stimulation (DBS) improves dystonia is not understood, partly heterogeneity of the underlying disorders leads to differing effects of stimulation in different locations. Similarity between the effects of DBS and the effects of lesions has led to biophysical models of blockade or reduced transmission of involuntary activity in individual cells in the pathways responsible (...) for dystonia. Here, we expand these theories by modeling the effect of DBS on populations of neurons. We emphasize the important observation that the DBS signal itself causes surprisingly few side effects and does not normally appear in the electromyographic signal. We hypothesize that, at the population level, massively synchronous rhythmic firing caused by DBS is only poorly transmitted through downstream populations. However, the high frequency of stimulation overwhelms incoming dystonic activity

2018 Frontiers in computational neuroscience

98. Acupuncture as Adjuvant Therapy for the Management of Cervical Dystonia Full Text available with Trip Pro

Acupuncture as Adjuvant Therapy for the Management of Cervical Dystonia Objectives: There are no curative treatments for cervical dystonia (CD), therefore conventional management is aimed at pain relief and muscle relaxation. Many patients with CD use complementary and integrative medicine interventions to manage symptoms, yet there are limited data on the use of acupuncture for CD. The aim of the current study was to determine the feasibility, safety, and efficacy of adjuvant acupuncture

2018 Medical Acupuncture

99. Recent advances in understanding and managing dystonia Full Text available with Trip Pro

Recent advances in understanding and managing dystonia Within the field of movement disorders, the conceptual understanding of dystonia has continued to evolve. Clinical advances have included improvements in recognition of certain features of dystonia, such as tremor, and understanding of phenotypic spectrums in the genetic dystonias and dystonia terminology and classification. Progress has also been made in the understanding of underlying biological processes which characterize dystonia from (...) discoveries using approaches such as neurophysiology, functional imaging, genetics, and animal models. Important advances include the role of the cerebellum in dystonia, the concept of dystonia as an aberrant brain network disorder, additional evidence supporting the concept of dystonia endophenotypes, and new insights into psychogenic dystonia. These discoveries have begun to shape treatment approaches as, in parallel, important new treatment modalities, including magnetic resonance imaging-guided

2018 F1000Research

100. The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2 Full Text available with Trip Pro

The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2 We report the second known family affected by deafness-dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.

2018 Clinical Case Reports

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