Genetics Home Reference: dystonia 6

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... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... dystonia, DYT6 type The Bachmann-Strauss Dystonia and Parkinson Foundation: What Is Dystonia? Patient Support and Advocacy ...

Soleus H-reflex tests in causalgia-dystonia compared with dystonia and mimicked dystonic posture

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Koelman, J. H.; Hilgevoord, A. A.; Bour, L. J.; Speelman, J. D.; Ongerboer de Visser, B. W.

1999-01-01

Dystonia in the causalgia-dystonia syndrome is characterized by a fixed dystonic posture. To identify involvement of central pathophysiologic mechanisms, we analyzed soleus H-reflex tests in five patients with causalgia-dystonia. Soleus H-reflex test results in these patients differed from those in

Surgery for Dystonia and Tremor.

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Crowell, Jason L; Shah, Binit B

2016-03-01

Surgical procedures for dystonia and tremor have evolved over the past few decades, and our understanding of risk, benefit, and predictive factors has increased substantially in that time. Deep brain stimulation (DBS) is the most utilized surgical treatment for dystonia and tremor, though lesioning remains an effective option in appropriate patients. Dystonic syndromes that have shown a substantial reduction in severity secondary to DBS are isolated dystonia, including generalized, cervical, and segmental, as well as acquired dystonia such as tardive dystonia. Essential tremor is quite amenable to DBS, though the response of other forms of postural and kinetic tremor is not nearly as robust or consistent based on available evidence. Regarding targeting, DBS lead placement in the globus pallidus internus has shown marked efficacy in dystonia reduction. The subthalamic nucleus is an emerging target, and increasing evidence suggests that this may be a viable target in dystonia as well. The ventralis intermedius nucleus of the thalamus is the preferred target for essential tremor, though targeting the subthalamic zone/caudal zona incerta has shown promise and may emerge as another option in essential tremor and possibly other tremor disorders. In the carefully selected patient, DBS and lesioning procedures are relatively safe and effective for the management of dystonia and tremor.

Advances in molecular genetic studies of primary dystonia

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MA Ling-yan

2013-07-01

Full Text Available Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting, repetitive movements and abnormal postures. In recent years, there was a great advance in molecular genetic studies of primary dystonia. This paper will review the clinical characteristics and molecular genetic studies of primary dystonia, including early-onset generalized torsion dystonia (DYT1, whispering dysphonia (DYT4, dopa-responsive dystonia (DYT5, mixed-type dystonia (DYT6, paroxysmal kinesigenic dyskinesia (DYT10, myoclonus-dystonia syndrome (DYT11, rapid-onset dystonia parkinsonism (DYT12, adult-onset cervical dystonia (DYT23, craniocervical dystonia (DYT24 and primary torsion dystonia (DYT25.

Employees with Dystonia

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... filters for the computer Situations and Solutions: A student who has dystonia affecting the eyelids was having ... not able to meet production standards due to cervical dystonia resulting in head movement and pain. JAN suggested the use of a tilt-table ...

Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia.

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Bradnam, Lynley V; Graetz, Lynton J; McDonnell, Michelle N; Ridding, Michael C

2015-01-01

There is increasing evidence that the cerebellum has a role in the pathophysiology of primary focal hand dystonia and might provide an intervention target for non-invasive brain stimulation to improve function of the affected hand. The primary objective of this study was to determine if cerebellar transcranial direct current stimulation (tDCS) improves handwriting and cyclic drawing kinematics in people with hand dystonia, by reducing cerebellar-brain inhibition (CBI) evoked by transcranial magnetic stimulation (TMS). Eight people with dystonia (5 writer's dystonia, 3 musician's dystonia) and eight age-matched controls completed the study and underwent cerebellar anodal, cathodal and sham tDCS in separate sessions. Dystonia severity was assessed using the Writer's Cramp Rating Scale (WRCS) and the Arm Dystonia Disability Scale (ADDS). The kinematic measures that differentiated the groups were; mean stroke frequency during handwriting and fast cyclic drawing and average pen pressure during light cyclic drawing. TMS measures of cortical excitability were no different between people with FHD and controls. There was a moderate, negative relationship between TMS-evoked CBI at baseline and the WRCS in dystonia. Anodal cerebellar tDCS reduced handwriting mean stroke frequency and average pen pressure, and increased speed and reduced pen pressure during fast cyclic drawing. Kinematic measures were not associated with a decrease in CBI within an individual. In conclusion, cerebellar anodal tDCS appeared to improve kinematics of handwriting and circle drawing tasks; but the underlying neurophysiological mechanism remains uncertain. A study in a larger homogeneous population is needed to further investigate the possible therapeutic benefit of cerebellar tDCS in dystonia.

Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias.

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Angelika eRichter

2015-11-01

Full Text Available Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e. dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans, and summarizes similar hereditary movement disorders reported in domestic animals.

Cervical Dystonia (Spasmodic Torticollis)

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... Many people who have cervical dystonia also experience neck pain that can radiate into the shoulders. The disorder also can cause headaches. In some people, the pain from cervical dystonia can be exhausting and disabling. Causes In ...

Reduced striatal D2 receptor binding in myoclonus-dystonia

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Beukers, R.J.; Weisscher, N.; Tijssen, M.A.J.; Booij, J.; Zijlstra, F.; Amelsvoort, T.A.M.J. van

2009-01-01

To study striatal dopamine D 2 receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D). Fifteen DYT11 mutation carriers (11 clinically affected) and 15 age- and sex-matched controls were studied using 123 I-IBZM SPECT. Specific striatal binding ratios were calculated using standard templates for striatum and occipital areas. Multivariate analysis with corrections for ageing and smoking showed significantly lower specific striatal to occipital IBZM uptake ratios (SORs) both in the left and right striatum in clinically affected patients and also in all DYT11 mutation carriers compared to control subjects. Our findings are consistent with the theory of reduced dopamine D 2 receptor (D2R) availability in dystonia, although the possibility of increased endogenous dopamine, and consequently, competitive D2R occupancy cannot be ruled out. (orig.)

Adaptation of feedforward movement control is abnormal in patients with cervical dystonia and tremor.

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Avanzino, Laura; Ravaschio, Andrea; Lagravinese, Giovanna; Bonassi, Gaia; Abbruzzese, Giovanni; Pelosin, Elisa

2018-01-01

It is under debate whether the cerebellum plays a role in dystonia pathophysiology and in the expression of clinical phenotypes. We investigated a typical cerebellar function (anticipatory movement control) in patients with cervical dystonia (CD) with and without tremor. Twenty patients with CD, with and without tremor, and 17 healthy controls were required to catch balls of different load: 15 trials with a light ball, 25 trials with a heavy ball (adaptation) and 15 trials with a light ball (post-adaptation). Arm movements were recorded using a motion capture system. We evaluated: (i) the anticipatory adjustment (just before the impact); (ii) the extent and rate of the adaptation (at the impact) and (iii) the aftereffect in the post-adaptation phase. The anticipatory adjustment was reduced during adaptation in CD patients with tremor respect to CD patients without tremor and controls. The extent and rate of adaptation and the aftereffect in the post-adaptation phase were smaller in CD with tremor than in controls and CD without tremor. Patients with cervical dystonia and tremor display an abnormal predictive movement control. Our findings point to a possible role of cerebellum in the expression of a clinical phenotype in dystonia. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

[Primary focal dystonia: descriptive study of 205 patients].

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Bartolomé, F M; Fanjul, S; Cantarero, S; Hernández, J; García Ruiz, P J

2003-03-01

To describe the clinical and epidemiologic aspects of different types of focal dystonia. A total of 205 patients with primary focal dystonia were studied retrospectively and the following variables were analyzed: gender, age of onset, age at examination, evolution time, history of trauma, association with other movement disorders, fluctuations of dystonic symptoms as well as a family history of dystonia, Parkinson's disease, tremor, and lefthandedness or stuttering. We compared these variables among the different clinical categories of focal dystonia. Those patients with cranial and laryngeal dystonia were significantly older at the onset of symptoms compared with patients with writer's cramp. Males were more prevalent than females in all categories of focal dystonia except for cranial dystonia. Prior history of trauma and association with tremor were more frequent in patients with cervical dystonia than in those with others dystonic categories. Most patients with cranial, cervical and laryngeal dystonia had fluctuations in the intensity of dystonic symptoms, unlike the patients with writer's cramp. There is a caudo-cranial gradient in age of onset and the age of onset increases as the cranial presentation becomes greater. Females are more prevalent in cranial dystonia and there is a preponderance of males in the dystonias with a lower location. The dystonias with cranial distribution frequently present fluctuations of symptoms during the day. Association with other movement disorders, such as tremor, and prior history of trauma, is common in patients with cervical dystonia.

Depression in focal, segmental and generalized dystonia.

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Lewis, L; Butler, A; Jahanshahi, M

2008-11-01

Dystonia causes body disfigurement in the majority of those affected. Our aim was to test the hypothesis that low self-esteem resulting from the sense of disfigurement is an important component of self-reported depression in focal, segmental and generalized dystonia. Questionnaires to assess self-reported depression, self-esteem, body concept, disfigurement, disability and quality of life were completed by 329 community based dystonia patients. Moderate to severe depression was reported by 30 %. Self-reported depression had a strong somatic component, but patients also showed a specific concern with self-image. Extent of dystonia, body parts affected and marital status influenced self-reported depression in dystonia. Self esteem, body concept, disfigurement and quality of life emerged as factors which accounted for the variance of self-reported depression in dystonia. These results suggest that in dystonia, disfigurement, negative body concept, low self-esteem, and the impact of the disease on quality of life make important contributions to depression. However, longitudinal followup is required to firmly establish the direction of causality between depression and these psychosocial variables in dystonia.

Clinical-pathomorphological correlation in patients with symptomatic dystonias

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Ivanović Nataša

2002-01-01

Full Text Available Symptomatic dystonia can be the result of various metabolic, degenerative diseases, the consumption of certain medications or exposure to toxic agents. However, only symptomatic dystonia with focal structural lesion provides a significant "window" for, at least indirect, perception of aetiopa-thogenesis and pathomorphological substratum of idiopathic dystonia. Our study included 57 patients with symptomatic dystonia, which as a base had focal or multifocal lesions, of whom 7 patients had generalized dystonia, 18 hemidystonia, 6 segmental dystonia, 7 torticollis, 6 blepharospasm, 7 hand dystonia, 3 spasmodic dysphonia, and 3 had oromandibular dystonia. Stroke was highly statistically the most frequent cause of structural lesions (33/57 or 58%. Relevant pathomorphological changes were present in 50/57 (88% patients, of whom 25 (50% had lesion in the lenticular nucleus (including individual damage of the putamen and globus pallidus, 12/50 (24% had damage of the thalamus and 6/50 (12% had damage of the brainstem. Generalized dystonia was most frequently associated with bilateral lesion of the putamen, hemidystonia with lesion of contralateral putamen, torticollis with damage of the caudate nucleus, hand dystonia with lesion of the thalamus and blepharospasm with lesion of the upper brainstem.

Dystonia: an update on phenomenology, classification, pathogenesis and treatment.

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Balint, Bettina; Bhatia, Kailash P

2014-08-01

This article will highlight recent advances in dystonia with focus on clinical aspects such as the new classification, syndromic approach, new gene discoveries and genotype-phenotype correlations. Broadening of phenotype of some of the previously described hereditary dystonias and environmental risk factors and trends in treatment will be covered. Based on phenomenology, a new consensus update on the definition, phenomenology and classification of dystonia and a syndromic approach to guide diagnosis have been proposed. Terminology has changed and 'isolated dystonia' is used wherein dystonia is the only motor feature apart from tremor, and the previously called heredodegenerative dystonias and dystonia plus syndromes are now subsumed under 'combined dystonia'. The recently discovered genes ANO3, GNAL and CIZ1 appear not to be a common cause of adult-onset cervical dystonia. Clinical and genetic heterogeneity underlie myoclonus-dystonia, dopa-responsive dystonia and deafness-dystonia syndrome. ALS2 gene mutations are a newly recognized cause for combined dystonia. The phenotypic and genotypic spectra of ATP1A3 mutations have considerably broadened. Two new genome-wide association studies identified new candidate genes. A retrospective analysis suggested complicated vaginal delivery as a modifying risk factor in DYT1. Recent studies confirm lasting therapeutic effects of deep brain stimulation in isolated dystonia, good treatment response in myoclonus-dystonia, and suggest that early treatment correlates with a better outcome. Phenotypic classification continues to be important to recognize particular forms of dystonia and this includes syndromic associations. There are a number of genes underlying isolated or combined dystonia and there will be further new discoveries with the advances in genetic technologies such as exome and whole-genome sequencing. The identification of new genes will facilitate better elucidation of pathogenetic mechanisms and possible corrective

Clinical neurogenetics: dystonia from phenotype to genotype.

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Waugh, Jeffrey L; Sharma, Nutan

2013-11-01

Dystonia can arise from genetic syndromes or can be secondary to nongenetic injuries; both causes can produce pure dystonia, dystonia plus other movement disorders, or paroxysmal mixed movement disorders. Genetic causes of dystonia are inherited through dominant, recessive, X-linked, and mitochondrial mechanisms, may show anticipation, are variably penetrant, and may be limited to small ethnic populations or single families. In this article, the genetic causes of dystonia, an algorithm for their diagnosis and management, information on common medications and surgical treatments, and resources for affected families and those interested in advancing research are presented. Copyright © 2013 Elsevier Inc. All rights reserved.

Headache Attributed to Craniocervical Dystonia - A Little Known Headache.

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Bezerra, Marcos Eugenio Ramalho; Rocha-Filho, Pedro Augusto Sampaio

2017-02-01

Craniocervical dystonia is a focal or segmental dystonia in its distribution, classically known as spasmodic torticollis when in its pure cervical presentation. Although craniocervical dystonia has been recognized as a possible cause of headache since the publication of the second version of International Classification of Headache Disorders, there are few studies about this entity. This was a narrative review. Craniocervical dystonia was associated with muscle pain in 67-89% of the cases. Headaches of any kind affected approximately 60% of patients with craniocervical dystonia, and were located mainly in the occipital and cervical regions. Headache attributed to craniocervical dystonia specifically was rarely found, and it was described in only one patient out of 80 in one study. Treatment with botulinum neurotoxin is considered to be the first-line treatment for focal dystonias, including craniocervical dystonia, and besides reducing clinical severity, impairment, and pain scores among the patients with craniocervical dystonia, there were also descriptions of improvements in headaches attributed to craniocervical dystonia and other headaches associated with this dystonia. Headache attributed to craniocervical dystonia has been poorly studied. There is a need for more studies to evaluate its characteristics and treatment. © 2016 American Headache Society.

The Functional Neuroanatomy of Dystonia

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Neychev, Vladimir K.; Gross, Robert; Lehéricy, Stephane; Hess, Ellen J.; Jinnah, H. A.

2011-01-01

Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. There are many different clinical manifestations, and many different causes. The neuroanatomical substrates for dystonia are only partly understood. Although the traditional view localizes dystonia to basal ganglia circuits, there is increasing recognition that this view is inadequate for accommodating a substantial portion of available clinical and experimental evidence. A model in which several brain regions play a role in a network better accommodates the evidence. This network model accommodates neuropathological and neuroimaging evidence that dystonia may be associated with abnormalities in multiple different brain regions. It also accommodates animal studies showing that dystonic movements arise with manipulations of different brain regions. It is consistent with neurophysiological evidence suggesting defects in neural inhibitory processes, sensorimotor integration, and maladaptive plasticity. Finally, it may explain neurosurgical experience showing that targeting the basal ganglia is effective only for certain subpopulations of dystonia. Most importantly, the network model provides many new and testable hypotheses with direct relevance for new treatment strategies that go beyond the basal ganglia. PMID:21303695

Dystonia: Emotional and Mental Health

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... Support Frequently Asked Questions Faces of Dystonia Emotional & Mental Health Although dystonia is a movement disorder that impacts ... emotion as well as muscle movement. For years, mental health professionals have recognized that coping with a chronic ...

Acute Cervical Dystonia Induced by Clebopride

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Choi, Jin Kyo; Hong, Jin Yong

2017-01-01

Antidopaminergic drugs are known to induce extrapyramidal symptoms. Clebopride, a dopamine antagonist, also can produce parkinsonism, tardive dyskinesia, tardive dystonia, hemifacial dystonia, or oculogyric crisis; however, acute dystonic reaction caused by clebopride has not been reported in adults. We report two young men who experienced acute cervical dystonia within a few days of taking clebopride. The patients recovered after discontinuation of the drug. Physicians prescribing clebopride...

Dystonia

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... eRA) Grants Policy OER News About OER Research Contracts Loan Repayment News News Releases News Feed RSS ... of dystonia – based in some cases on the manipulation of the genes linked to the disorder in ...

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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Alberto Albanese

2016-04-01

Full Text Available Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results: The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion: Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia.

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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Albanese, Alberto; Sorbo, Francesca Del

2016-01-01

Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

Dissecting the links between cerebellum and dystonia.

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Malone, Ailish; Manto, Mario; Hass, Chris

2014-12-01

Dystonia is a common movement disorder characterized by sustained muscle contractions. These contractions generate twisting and repetitive movements or typical abnormal postures, often exacerbated by voluntary movement. Dystonia can affect almost all the voluntary muscles. For several decades, the discussion on the pathogenesis has been focused on basal ganglia circuits, especially striatal networks. So far, although dystonia has been observed in some forms of ataxia such as dominant ataxias, the link between the cerebellum and dystonia has remained unclear. Recent human studies and experimental data mainly in rodents show that the cerebellum circuitry could also be a key player in the pathogenesis of some forms of dystonia. In particular, studies based on behavioral adaptation paradigm shed light on the links between dystonia and cerebellum. The spectrum of movement disorders in which the cerebellum is implicated is continuously expanding, and manipulation of cerebellar circuits might even emerge as a candidate therapy in the coming years.

[Bilateral Pallidotomy for Tardive Dystonia:A Case Report].

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Kohara, Kotaro; Taira, Takaomi; Horisawa, Shiro; Hanada, Tomoko; Kawamata, Takakazu

2017-11-01

Tardive dystonia is a movement disorder related to the use of dopamine-receptor-blocking drugs. Several reports have shown that deep brain stimulation of the globus pallidus internus(GPi-DBS)is effective in treating tardive dystonia. However, a few reports demonstrated the efficacy of ablation of the GPi(pallidotomy). We herein report a case of tardive dystonia successfully treated with bilateral pallidotomy. A 32-year-old man developed severe tardive dystonia 10 years after the chronic use of antipsychotic drugs. Withdrawal of the drugs and botulinum toxin injections were ineffective. The patient underwent bilateral pallidotomy for tardive dystonia because of rejection of the implanted DBS devices. Significant improvement was observed, with a 95% decrease in the Burke-Fahn-Marsden Dystonia Rating Scale(BFMDRS)movement score, and no severe adverse events occurred. Symptomatic relief persisted for nine months. Pallidotomy is a feasible and efficacious procedure for tardive dystonia treatment without the use of hardware implantations.

Research Priorities in Limb and Task-Specific Dystonias

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Pirio Richardson, Sarah; Altenmüller, Eckart; Alter, Katharine; Alterman, Ron L.; Chen, Robert; Frucht, Steven; Furuya, Shinichi; Jankovic, Joseph; Jinnah, H. A.; Kimberley, Teresa J.; Lungu, Codrin; Perlmutter, Joel S.; Prudente, Cecília N.; Hallett, Mark

2017-01-01

Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer’s cramp, runner’s dystonia, or musician’s dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including: the development of

Research Priorities in Limb and Task-Specific Dystonias

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Sarah Pirio Richardson

2017-05-01

Full Text Available Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer’s cramp, runner’s dystonia, or musician’s dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including

Exploratory structural assessment in craniocervical dystonia: Global and differential analyses.

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Larissa Vilany

Full Text Available Our goal was to investigate the cortical thickness and subcortical volume in subjects with craniocervical dystonia and its subgroups.We studied 49 subjects, 17 with cervical dystonia, 18 with blepharospasm or oromandibular dystonia, and 79 healthy controls. We performed a whole group analysis, followed by a subgroup analysis. We used Freesurfer software to measure cortical thickness, subcortical volume and to perform a primary exploratory analysis in the craniocervical dystonia group, complemented by a region of interest analysis. We also performed a secondary analysis, with data generated from Freesurfer for subgroups, corrected by false discovery rate. We then performed an exploratory generalized linear model with significant areas for the previous steps using clinical features as independent variables.The primary exploratory analysis demonstrated atrophy in visual processing regions in craniocervical dystonia. The secondary analysis demonstrated atrophy in motor, sensory, and visual regions in blepharospasm or oromandibular dystonia, as well as in limbic regions in cervical dystonia. Cervical dystonia patients also had greater cortical thickness than blepharospasm or oromandibular dystonia patients in frontal pole and medial orbitofrontal regions. Finally, we observed an association between precuneus, age of onset of dystonia and age at the MRI exam, in craniocervical dystonia; between motor and limbic regions and age at the exam, clinical score and time on botulinum toxin in cervical dystonia and sensory regions and age of onset and time on botulinum toxin in blepharospasm or oromandibular dystonia.We detected involvement of visual processing regions in craniocervical dystonia, and a pattern of involvement in cervical dystonia and blepharospasm or oromandibular dystonia, including motor, sensory and limbic areas. We also showed an association of cortical thickness atrophy and younger onset age, older age at the MRI exam, higher clinical

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

OpenAIRE

Albanese, Alberto; Sorbo, Francesca Del

2016-01-01

Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known form...

Acute Cervical Dystonia Induced by Clebopride.

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Choi, Jin Kyo; Hong, Jin Yong

2017-01-01

Antidopaminergic drugs are known to induce extrapyramidal symptoms. Clebopride, a dopamine antagonist, also can produce parkinsonism, tardive dyskinesia, tardive dystonia, hemifacial dystonia, or oculogyric crisis; however, acute dystonic reaction caused by clebopride has not been reported in adults. We report two young men who experienced acute cervical dystonia within a few days of taking clebopride. The patients recovered after discontinuation of the drug. Physicians prescribing clebopride should be aware of the adverse effects of this drug.

Acute Cervical Dystonia Induced by Clebopride

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Jin Kyo Choi

2017-01-01

Full Text Available Antidopaminergic drugs are known to induce extrapyramidal symptoms. Clebopride, a dopamine antagonist, also can produce parkinsonism, tardive dyskinesia, tardive dystonia, hemifacial dystonia, or oculogyric crisis; however, acute dystonic reaction caused by clebopride has not been reported in adults. We report two young men who experienced acute cervical dystonia within a few days of taking clebopride. The patients recovered after discontinuation of the drug. Physicians prescribing clebopride should be aware of the adverse effects of this drug.

Coordination of Reach-to-Grasp Kinematics in Individuals With Childhood-Onset Dystonia Due to Hemiplegic Cerebral Palsy.

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Kukke, Sahana N; Curatalo, Lindsey A; de Campos, Ana Carolina; Hallett, Mark; Alter, Katharine E; Damiano, Diane L

2016-05-01

Functional reaching is impaired in dystonia. Here, we analyze upper extremity kinematics to quantify timing and coordination abnormalities during unimanual reach-to-grasp movements in individuals with childhood-onset unilateral wrist dystonia. Kinematics were measured during movements of both upper limbs in a patient group ( n = 11, age = 17.5 ±5 years), and a typically developing control group ( n = 9, age = 16.6 ±5 years). Hand aperture was computed to study the coordination of reach and grasp. Time-varying joint synergies within one upper limb were calculated using a novel technique based on principal component analysis to study intra-limb coordination. In the non-dominant arm, results indicate reduced coordination between reach and grasp in patients who could not lift the grasped object compared to those who could lift it. Lifters exhibit incoordination in distal upper extremity joints later in the movement and non-lifters lacked coordination throughout the movement and in the whole upper limb. The amount of atypical coordination correlates with dystonia severity in patients. Reduced coordination during movement may reflect deficits in the execution of simultaneous movements, motor planning, or muscle activation. Rehabilitation efforts can focus on particular time points when kinematic patterns deviate abnormally to improve functional reaching in individuals with childhood-onset dystonia.

Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients

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Linda Slaim

2018-05-01

Full Text Available Objective To report demographic data from a large cohort of patients with oromandibular dystonia (OMD. Methods This is a retrospective review of patients with OMD referred to our institution between 1989 and 2015. Demographic (age of onset, gender, and familial history of dystonia and clinical (type of OMD, associated dystonia, and etiology of dystonia data were collected from a cohort of 240 individuals. Results The mean age of onset of OMD was 51.6 years old, with a female predominance (2:1. A family history of dystonia was found in 6 patients (2.5%. One hundred and forty-nine patients (62.1% had the jaw-opening type of OMD, 48 patients (20.0% had the jaw-closing type, and 43 patients (17.9% had a mixed form of OMD. Lingual dystonia was also present in 64 (26.7% of these patients. Eighty-two patients (34.2% had a focal dystonia, 131 patients (54.6% had a segmental dystonia, and 27 patients (11.3% had a generalized dystonia. One hundred and seventy-one patients (71.3% had idiopathic OMD. Conclusion OMD is a chronic and disabling focal dystonia. Our study found a prevalence of female patients, an onset in middle age and a predominantly idiopathic etiology. Unlike other studies, jaw-opening was found to be the most frequent clinical type of OMD.

Phenomenology and classification of dystonia: a consensus update.

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Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B; Delong, Mahlon R; Fahn, Stanley; Fung, Victor S C; Hallett, Mark; Jankovic, Joseph; Jinnah, Hyder A; Klein, Christine; Lang, Anthony E; Mink, Jonathan W; Teller, Jan K

2013-06-15

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. © 2013 Movement Disorder Society. © 2013 Movement Disorder Society.

High-throughput mutational analysis of TOR1A in primary dystonia

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Truong Daniel D

2009-03-01

Full Text Available Abstract Background Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A has been associated with early-onset generalized dystonia and some ΔGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia. Methods High resolution melting (HRM was used to examine the entire TOR1A Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia and 250 controls (150 neurologically normal and 100 with other movement disorders. Diagnostic sensitivity and specificity were evaluated in an additional 8 subjects with known ΔGAG DYT1 dystonia and 88 subjects with ΔGAG-negative dystonia. Results HRM of TOR1A Exon 5 showed high (100% diagnostic sensitivity and specificity. HRM was rapid and economical. HRM reliably differentiated the TOR1A ΔGAG and c.863G>A mutations. Melting curves were normal in 250/250 controls and 1012/1014 subjects with primary dystonia. The two subjects with shifted melting curves were found to harbor the classic ΔGAG deletion: 1 a non-Jewish Caucasian female with childhood-onset multifocal dystonia and 2 an Ashkenazi Jewish female with adolescent-onset spasmodic dysphonia. Conclusion First, HRM is an inexpensive, diagnostically sensitive and specific, high-throughput method for mutation discovery. Second, Exon 5 mutations in TOR1A are rarely associated with non-generalized primary dystonia.

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias

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Waugh, Jeff L.; Kuster, John K.; Levenstein, Jacob M.; Makris, Nikos; Multhaupt-Buell, Trisha J.; Sudarsky, Lewis R.; Breiter, Hans C.; Sharma, Nutan; Blood, Anne J.

2016-01-01

Background: Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable insights into the pathophysiology of dystonia, but few directly assessed the gross volume of motor ...

Efficacy of zolpidem for dystonia: a study among different subtypes

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Yoshimichi eMiyazaki

2012-04-01

Full Text Available Although there are some newly-developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity on benzodiazepine subtype receptor BZ1(ω1 , was found to improve clinical symptoms of dystonia in a limited number of case reports. To investigate what subtype of dystonia is responsive to the therapy, we conducted an open label study to assess the efficacy of zolpidem (5-20mg in 34 patients suffering from miscellaneous types of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS. Patients were entered into the study if they had been refractory to other medications as evaluated by BFMDRS (no change in the previous 2 successive visits. After zolpidem therapy, the scores in the patients as a whole were decreased from 7.2±7.9 to 5.5±5.0 (P=0.042. Patients with generalized dystonia, Meige syndrome/blepharospasm, and hand dystonia improved in the scale by 27.8%, 17.8% and 31.0%, respectively, whereas no improvement was found in cervical dystonia patients. Overall response rate among patients were comparable to that of trihexyphenidyl. Zolpidem may be a therapeutic option for generalized dystonia, Meige syndrome and hand dystonia including musician’s. Drowsiness was the dose-limiting factor.

Focal dystonia in musicians: From phenomenology to therapy

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Hans-Christian Jabusch

2006-01-01

Full Text Available Background: Musician's dystonia is a task-specific movement disorder which manifests itself as a loss of voluntary motor control in extensively trained movements. In many cases, the disorder terminates the careers of affected musicians. Approximately 1% of all professional musicians are affected.Etiology and Pathophysiology: The pathophysiology of the disorder is still unclear. Findings include (a reduced inhibition in different levels of the central nervous system, (b maladaptive plasticity, e.g. in the somatosensory cortex and in the basal ganglia, and (c alterations in sensorimotor processing. Epidemiological data demon-strated a higher risk for those musicians who play instruments requiring maximal fine-motorskills. For instruments where workload differs across hands, focal dystonia appears more often in the more intensely used hand. In psychological studies, musicians with dystonia had more perfectionist tendencies than healthy musicians. These findings streng then the assumption that behavioral factors may be involved in the etiology of musician's dystonia. Hereditary factors may play a greater role than previously assumed. Preliminary findings suggest a genetic contributiont o focal task-specific dystonia with phenotypic variations including musician's dystonia.Treatment: Treatment options for musician's dystonia include pharmacological interventions such as administration of Trihexyphenidyl or Botulinum Toxin-A as well as retraining programs and ergonomic changes in the instrument. A long-term follow-up study was performed in 144 patients with musician's dystonia. The outcome was revealed on average 8.4 years after onset of symptoms. Outcome was assessed by patients' subjective rating of cumulative treatmentresponse and response to individual therapies. Seventy-seven patients (54% reported an alleviation of symptoms: 33% of the patients with Trihexyphenidyl, 49% with Botulinum Toxin, 50% with pedagogical retraining, 56% with unmonitored

Task-specific singing dystonia: vocal instability that technique cannot fix.

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Halstead, Lucinda A; McBroom, Deanna M; Bonilha, Heather Shaw

2015-01-01

Singer's dystonia is a rare variation of focal laryngeal dystonia presenting only during specific tasks in the singing voice. It is underdiagnosed since it is commonly attributed to technique problems including increased muscle tension, register transition, or wobble. Singer's dystonia differs from technique-related issues in that it is task- and/or pitch-specific, reproducible and occurs independently from the previously mentioned technical issues.This case series compares and contrasts profiles of four patients with singer's dystonia to increase our knowledge of this disorder. This retrospective case series includes a detailed case history, results of singing evaluations from individual voice teachers, review of singing voice samples by a singing voice specialist, evaluation by a laryngologist with endoscopy and laryngeal electromyography (LEMG), and spectral analysis of the voice samples by a speech-language pathologist. Results demonstrate the similarities and unique differences of individuals with singer's dystonia. Response to treatment and singing status varied from nearly complete relief of symptoms with botulinum toxin injections to minor relief of symptoms and discontinuation of singing. The following are the conclusions from this case series: (1) singer's dystonia exists as a separate entity from technique issues, (2) singer's dystonia is consistent with other focal task-specific dystonias found in musicians, (3) correctly diagnosing singer's dystonia allows singer's access to medical treatment of dystonia and an opportunity to modify their singing repertoire to continue singing with the voice they have, and (4) diagnosis of singer's dystonia requires careful sequential multidisciplinary evaluation to isolate the instability and confirm dystonia by LEMG and spectral voice analysis. Copyright © 2015 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.

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Waugh, Jeff L; Kuster, John K; Levenstein, Jacob M; Makris, Nikos; Multhaupt-Buell, Trisha J; Sudarsky, Lewis R; Breiter, Hans C; Sharma, Nutan; Blood, Anne J

2016-01-01

Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable insights into the pathophysiology of dystonia, but few directly assessed the gross volume of motor control regions, and to our knowledge, none identified abnormalities common to multiple types of idiopathic focal dystonia. We used two gross volumetric segmentation techniques and one voxelwise volumetric technique (voxel based morphometry, VBM) to compare regional volume between matched healthy controls and patients with idiopathic primary focal dystonia (cervical, n = 17, laryngeal, n = 7). We used (1) automated gross volume measures of eight motor control regions using the FreeSurfer analysis package; (2) blinded, anatomist-supervised manual segmentation of the whole thalamus (also gross volume); and (3) voxel based morphometry, which measures local T1-weighted signal intensity and estimates gray matter density or volume at the level of single voxels, for both whole-brain and thalamus. Using both automated and manual gross volumetry, we found a significant volume decrease only in the thalamus in two focal dystonias. Decreases in whole-thalamic volume were independent of head and brain size, laterality of symptoms, and duration. VBM measures did not differ between dystonia and control groups in any motor control region. Reduced thalamic gross volume, detected in two independent analyses, suggests a common anatomical abnormality in cervical dystonia and spasmodic dysphonia. Defining the structural underpinnings of dystonia may require such complementary approaches.

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.

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Jeff L Waugh

Full Text Available Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable insights into the pathophysiology of dystonia, but few directly assessed the gross volume of motor control regions, and to our knowledge, none identified abnormalities common to multiple types of idiopathic focal dystonia.We used two gross volumetric segmentation techniques and one voxelwise volumetric technique (voxel based morphometry, VBM to compare regional volume between matched healthy controls and patients with idiopathic primary focal dystonia (cervical, n = 17, laryngeal, n = 7. We used (1 automated gross volume measures of eight motor control regions using the FreeSurfer analysis package; (2 blinded, anatomist-supervised manual segmentation of the whole thalamus (also gross volume; and (3 voxel based morphometry, which measures local T1-weighted signal intensity and estimates gray matter density or volume at the level of single voxels, for both whole-brain and thalamus.Using both automated and manual gross volumetry, we found a significant volume decrease only in the thalamus in two focal dystonias. Decreases in whole-thalamic volume were independent of head and brain size, laterality of symptoms, and duration. VBM measures did not differ between dystonia and control groups in any motor control region.Reduced thalamic gross volume, detected in two independent analyses, suggests a common anatomical abnormality in cervical dystonia and spasmodic dysphonia. Defining the structural underpinnings of dystonia may require such complementary approaches.

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias

Science.gov (United States)

Waugh, Jeff L.; Kuster, John K.; Levenstein, Jacob M.; Makris, Nikos; Multhaupt-Buell, Trisha J.; Sudarsky, Lewis R.; Breiter, Hans C.; Sharma, Nutan; Blood, Anne J.

2016-01-01

Background Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable insights into the pathophysiology of dystonia, but few directly assessed the gross volume of motor control regions, and to our knowledge, none identified abnormalities common to multiple types of idiopathic focal dystonia. Methods We used two gross volumetric segmentation techniques and one voxelwise volumetric technique (voxel based morphometry, VBM) to compare regional volume between matched healthy controls and patients with idiopathic primary focal dystonia (cervical, n = 17, laryngeal, n = 7). We used (1) automated gross volume measures of eight motor control regions using the FreeSurfer analysis package; (2) blinded, anatomist-supervised manual segmentation of the whole thalamus (also gross volume); and (3) voxel based morphometry, which measures local T1-weighted signal intensity and estimates gray matter density or volume at the level of single voxels, for both whole-brain and thalamus. Results Using both automated and manual gross volumetry, we found a significant volume decrease only in the thalamus in two focal dystonias. Decreases in whole-thalamic volume were independent of head and brain size, laterality of symptoms, and duration. VBM measures did not differ between dystonia and control groups in any motor control region. Conclusions Reduced thalamic gross volume, detected in two independent analyses, suggests a common anatomical abnormality in cervical dystonia and spasmodic dysphonia. Defining the structural underpinnings of dystonia may require such complementary approaches. PMID:27171035

Efficacy of Zolpidem for Dystonia: A Study Among Different Subtypes

Science.gov (United States)

Miyazaki, Yoshimichi; Sako, Wataru; Asanuma, Kotaro; Izumi, Yuishin; Miki, Tetsuro; Kaji, Ryuji

2012-01-01

Although there are some newly developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity on benzodiazepine subtype receptor BZ1 (ω1), was found to improve clinical symptoms of dystonia in a limited number of case reports. To investigate what subtype of dystonia is responsive to the therapy, we conducted an open label study to assess the efficacy of zolpidem (5–20 mg) in 34 patients suffering from miscellaneous types of dystonia using the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS). Patients were entered into the study if they had been refractory to other medications as evaluated by BFMDRS (no change in the previous two successive visits). After zolpidem therapy, the scores in the patients as a whole were decreased from 7.2 ± 7.9 to 5.5 ± 5.0 (P = 0.042). Patients with generalized dystonia, Meige syndrome/blepharospasm, and hand dystonia improved in the scale by 27.8, 17.8, and 31.0%, respectively, whereas no improvement was found in cervical dystonia patients. Overall response rate among patients were comparable to that of trihexyphenidyl. Zolpidem may be a therapeutic option for generalized dystonia, Meige syndrome, and hand dystonia including musician’s. Drowsiness was the dose-limiting factor. PMID:22529836

Tardive Dystonia: Clinical Spectrum and Novel Manifestations

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R. Jeffrey Davis

1988-01-01

Full Text Available Tardive dystonia was identified in 25 patients: involvement of the face and neck was most common; truncal and limb dystonia were also observed. There were 3 cases of laryngospasm and 2 of spasmodic dysphonia. The latter has not been previously reported as a manifestation of tardive dystonia. In all cases, movements typical of classic tardive dyskinesia could be demonstrated. This group illustrates the variety of dystonic disorders that may occur in conjunction with tardive dyskinesia.

Feedforward somatosensory inhibition is normal in cervical dystonia.

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Ferrè, Elisa R; Ganos, Christos; Bhatia, Kailash P; Haggard, Patrick

2015-03-01

Insufficient cortical inhibition is a key pathophysiological finding in dystonia. Subliminal sensory stimuli were reported to transiently inhibit somatosensory processing. Here we investigated whether such subliminal feedforward inhibition is reduced in patients with cervical dystonia. Sixteen cervical dystonia patients and 16 matched healthy controls performed a somatosensory detection task. We measured the drop in sensitivity to detect a threshold-level digital nerve shock when it was preceded by a subliminal conditioning shock, compared to when it was not. Subliminal conditioning shocks reduced sensitivity to threshold stimuli to a similar extent in both patients and controls, suggesting that somatosensory subliminal feedforward inhibition is normal in cervical dystonia. Somatosensory feedforward inhibition was normal in this group of cervical dystonia patients. Our results qualify previous concepts of a general dystonic deficit in sensorimotor inhibitory processing. Copyright © 2015 Elsevier Ltd. All rights reserved.

Botulinum toxin for treatment of the focal dystonia.

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Nakamura, Yusaku

2017-07-29

Dystonia is defined as a movement disorder characterized by sustained or intermittent muscles contraction causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. The precis diagnosis of dystonia is difficult for physicians because neurological brain imaging does not provide enough practical information. The diagnosis is depend on clinical experience of physicians. Botulinum toxin treatment is the accepted standard of care for patients with focal dystonia. Botulinum toxin treatment results in significant improvement of decreasing the symptom of dystonia. The success of treatment is dependent on muscle selection for treating involved muscles. Usually performance of botulinum toxin treatment is injected according to clinical experience of surface anatomy or clinical location method. However, the benefit of guidance of botulinum toxin treatment is improve outcome in dystonia. Injection techniques with ultra sound echogram or EMG guidance to identify dystonic muscles can be more benefit for patients.

Diffuse Decreased Gray Matter in Patients with Idiopathic Craniocervical Dystonia: a Voxel-Based Morphometry Study

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Camila Callegari Piccinin

2015-01-01

Full Text Available Background: Recent studies have addressed the role of structures other than the basal ganglia in the pathophysiology of craniocervical dystonia. Neuroimaging studies have attempted to identify structural abnormalities in craniocervical dystonia but a clear pattern of alteration has not been established. We performed whole brain evaluation using voxel-based morphometry to identify patterns of gray matter changes in craniocervical dystonia.Methods: We compared 27 patients with craniocervical dystonia matched in age and gender to 54 healthy controls. Voxel-based morphometry was used to compare gray matter volumes. We created a two-sample t-test corrected for subjects’ age and we tested with a level of significance of p<0.001 and false discovery rate correction (p<0.05. Results: Voxel-based morphometry demonstrated significant reductions of gray matter using p<0.001 in the cerebellar vermis IV/V, bilaterally in the superior frontal gyrus, precuneus, anterior cingulate and paracingulate, insular cortex, lingual gyrus and calcarine fissure; in the left hemisphere in the supplemementary motor area (SMA, inferior frontal gyrus, inferior parietal gyrus, temporal pole, supramarginal gyrus, rolandic operculum , hippocampus, middle occipital gyrus, cerebellar lobules IV/V, superior and middle temporal gyri; in the right hemisphere, the middle cingulate and precentral gyrus. Our study did not report any significant result using the false discovery rate correction. We also detected correlations between gray matter volume and age, disease duration, duration of botulinum toxin treatment and the Marsden-Fahn dystonia scale scores.Conclusions: We detected large clusters of gray matter changes chiefly in structures primarily involved in sensorimotor integration, motor planning, visuospatial function and emotional processing.

Mental rotation and working memory in musicians' dystonia.

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Erro, Roberto; Hirschbichler, Stephanie T; Ricciardi, Lucia; Ryterska, Agata; Antelmi, Elena; Ganos, Christos; Cordivari, Carla; Tinazzi, Michele; Edwards, Mark J; Bhatia, Kailash P

2016-11-01

Mental rotation of body parts engages cortical-subcortical areas that are actually involved in the execution of a movement. Musicians' dystonia is a type of focal hand dystonia that is grouped together with writer's cramp under the rubric of "occupational dystonia", but it is unclear to which extent these two disorders share common pathophysiological mechanisms. Previous research has demonstrated patients with writer's cramp to have deficits in mental rotation of body parts. It is unknown whether patients with musicians' dystonia would display similar deficits, reinforcing the concept of shared pathophysiology. Eight patients with musicians' dystonia and eight healthy musicians matched for age, gender and musical education, performed a number of tasks assessing mental rotation of body parts and objects as well as verbal and spatial working memories abilities. There were no differences between patients and healthy musicians as to accuracy and reaction times in any of the tasks. Patients with musicians' dystonia have intact abilities in mentally rotating body parts, suggesting that this disorder relies on a highly selective disruption of movement planning and execution that manifests only upon playing a specific instrument. We further demonstrated that mental rotation of body parts and objects engages, at least partially, different cognitive networks. Copyright © 2016 Elsevier Inc. All rights reserved.

Distonia psicogênica: relato de dois casos Psychogenic dystonia: report of two cases

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ANTONIO PEDRO VARGAS

2000-06-01

; psychological examination showed severe depression, hypochondria and obsessive disorder. Patient 2: a female that presented with irregular limb tremors that disappeared with distraction and left foot dystonia nine years ago; she gradually lost her walk capacity; she complained pain in lumbar area and in her left limb, psychological examination showed infantile behaviour, low frustration tolerance, impulsivity and self-aggression. Their complementary exams showed no alterations and they had no reponse to specific pharmacological treatment. Dystonia is rarely psychogenic, but this etiology is suggested when clinical characteristics are inconsistent and incongrous with a classical disorder. It shoud be part of differential diagnosis when appears in association with other somatization or psychiatric disorders.

Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.

LENUS (Irish Health Repository)

Bradley, D

2012-01-01

Adult-onset primary torsion dystonia (AOPTD) is an autosomal dominant disorder with markedly reduced penetrance. Sensory abnormalities are present in AOPTD and also in unaffected relatives, possibly indicating non-manifesting gene carriage (acting as an endophenotype). The temporal discrimination threshold (TDT) is the shortest time interval at which two stimuli are detected to be asynchronous. We aimed to compare the sensitivity and specificity of three different TDT tasks (visual, tactile and mixed\\/visual-tactile). We also aimed to examine the sensitivity of TDTs in different AOPTD phenotypes. To examine tasks, we tested TDT in 41 patients and 51 controls using visual (2 lights), tactile (non-painful electrical stimulation) and mixed (1 light, 1 electrical) stimuli. To investigate phenotypes, we examined 71 AOPTD patients (37 cervical dystonia, 14 writer\\'s cramp, 9 blepharospasm, 11 spasmodic dysphonia) and 8 musician\\'s dystonia patients. The upper limit of normal was defined as control mean +2.5 SD. In dystonia patients, the visual task detected abnormalities in 35\\/41 (85%), the tactile task in 35\\/41 (85%) and the mixed task in 26\\/41 (63%); the mixed task was less sensitive than the other two (p = 0.04). Specificity was 100% for the visual and tactile tasks. Abnormal TDTs were found in 36 of 37 (97.3%) cervical dystonia, 12 of 14 (85.7%) writer\\'s cramp, 8 of 9 (88.8%) blepharospasm, 10 of 11 (90.1%) spasmodic dysphonia patients and 5 of 8 (62.5%) musicians. The visual and tactile tasks were found to be more sensitive than the mixed task. Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians.

Integration of sensory force feedback is disturbed in CRPS-related dystonia.

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Mugge, Winfred; van der Helm, Frans C T; Schouten, Alfred C

2013-01-01

Complex regional pain syndrome (CRPS) is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed force feedback. Assessment of sensorimotor integration may provide insight into the pathophysiology of fixed dystonia. Sensory weighting is the process of integrating and weighting sensory feedback channels in the central nervous system to improve the state estimate. It was hypothesized that patients with CRPS-related dystonia bias sensory weighting of force and position toward position due to the unreliability of force feedback. The current study provides experimental evidence for dysfunctional sensory integration in fixed dystonia, showing that CRPS-patients with fixed dystonia weight force and position feedback differently than controls do. The study shows reduced force feedback weights in CRPS-patients with fixed dystonia, making it the first to demonstrate disturbed integration of force feedback in fixed dystonia, an important step towards understanding the pathophysiology of fixed dystonia.

Integration of sensory force feedback is disturbed in CRPS-related dystonia.

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Winfred Mugge

Full Text Available Complex regional pain syndrome (CRPS is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed force feedback. Assessment of sensorimotor integration may provide insight into the pathophysiology of fixed dystonia. Sensory weighting is the process of integrating and weighting sensory feedback channels in the central nervous system to improve the state estimate. It was hypothesized that patients with CRPS-related dystonia bias sensory weighting of force and position toward position due to the unreliability of force feedback. The current study provides experimental evidence for dysfunctional sensory integration in fixed dystonia, showing that CRPS-patients with fixed dystonia weight force and position feedback differently than controls do. The study shows reduced force feedback weights in CRPS-patients with fixed dystonia, making it the first to demonstrate disturbed integration of force feedback in fixed dystonia, an important step towards understanding the pathophysiology of fixed dystonia.

Cognition in Childhood Dystonia : A systematic review

NARCIS (Netherlands)

Coenen, Maraike A; Eggink, Hendriekje; Tijssen, M.A.; Spikman, Jacoba

Background and aim: Cognitive impairments have been established as part of the non-motor phenomenology of adult dystonia. In childhood dystonia, the extent of cognitive impairments is less clear. This systematic review aims at presenting an overview over the existing literature to elucidate the

Pharyngeal Dystonia Mimicking Spasmodic Dysphonia.

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Shi, Lucy L; Simpson, C Blake; Hapner, Edie R; Jinnah, Hyder A; Johns, Michael M

2018-03-01

The aim of this study was to describe the presentation of pharyngeal dystonia (PD), which can occur as a focal or segmental dystonia with a primarily pharyngeal involvement for the discussion of treatment methods for controlling consequent symptoms. PD is specific to speech-related tasks. A retrospective medical record review of four patients with PD was performed. All patients were initially misdiagnosed with adductor spasmodic dysphonia and failed standard treatment with botulinum toxin type A (BTX). On laryngoscopy, the patients were discovered to have segmental or focal dystonia primarily affecting the pharyngeal musculature contributing to their vocal manifestations. A novel treatment regimen was designed, which involved directing BTX injections into the muscles involved in spasmodic valving at the oropharyngeal level. After titrating to an optimal dose, all patients showed improvement in their voice and speech with only mild dysphagia. These patients have maintained favorable results with repeat injections at 6- to 12-week intervals. PD, or dystonia with predominant pharyngeal involvement, is a rare entity with vocal manifestations that are not well described. It can be easily mistaken for spasmodic dysphonia. PD is specific to speech-related tasks. A novel method of BTX injections into the involved muscles results in a significant improvement in voice without significant dysphagia. Copyright © 2018 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Temporal Discrimination: Mechanisms and Relevance to Adult-Onset Dystonia

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Antonella Conte

2017-11-01

Full Text Available Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT is the minimum interval at which paired sequential stimuli are perceived as being asynchronous; this can be assessed, with high test–retest and inter-rater reliability, using a simple psychophysical test. Temporal discrimination is disordered in a number of basal ganglia diseases including adult-onset dystonia, of which the two most common phenotypes are cervical dystonia and blepharospasm. The causes of adult-onset focal dystonia are unknown; genetic, epigenetic, and environmental factors are relevant. Abnormal TDTs in adult-onset dystonia are associated with structural and neurophysiological changes considered to reflect defective inhibitory interneuronal processing within a network which includes the superior colliculus, basal ganglia, and primary somatosensory cortex. It is hypothesized that abnormal temporal discrimination is a mediational endophenotype and, when present in unaffected relatives of patients with adult-onset dystonia, indicates non-manifesting gene carriage. Using the mediational endophenotype concept, etiological factors in adult-onset dystonia may be examined including (i the role of environmental exposures in disease penetrance and expression; (ii sexual dimorphism in sex ratios at age of onset; (iii the pathogenesis of non-motor symptoms of adult-onset dystonia; and (iv subcortical mechanisms in disease pathogenesis.

Inherited dystonias: clinical features and molecular pathways.

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Weisheit, Corinne E; Pappas, Samuel S; Dauer, William T

2018-01-01

Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia - a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations. Studies of genetic forms of dystonia are also illuminating the developmental dependence of disease symptoms that is typical of many forms of the disease. As understanding of monogenic forms of dystonia grows, a clearer picture will develop of the abnormal motor circuitry behind this relatively common phenomenology. This chapter focuses on the current data covering the etiology and epidemiology, clinical presentation, and pathogenesis of four monogenic forms of isolated dystonia: DYT-TOR1A, DYT-THAP1, DYT-GCH1, and DYT-GNAL. Copyright © 2018 Elsevier B.V. All rights reserved.

The broadening application of chemodenervation in X-linked dystonia-parkinsonism (Part II): an open-label experience with botulinum toxin-A (Dysport®) injections for oromandibular, lingual, and truncal-axial dystonias.

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Rosales, Raymond L; Ng, Arlene R; Santos, Mary Mildred Delgado-Delos; Fernandez, Hubert H

2011-01-01

While the majority of chemodenervation clinics worldwide typically use botulinum toxins for the treatment of common conditions such as blepharopsams, cervical dystonia, limb dystonia, and spasticity, the unusually high concentration of X-linked dystonia-parkinsonism (XDP) has allowed us to collect and describe our experience in the use of botulinum toxin type A (BoNT-A) on rarer dystonic patterns. BoNT-A (Dysport®) was injected in a total 109 dystonias of XDP. Our cohort included: 50 cases in the oromandibular area (jaw opening: 32 cases, jaw closing: 12 cases, and jaw deviation: 6 cases); 35 cases in the lingual area (tongue protrusion: 27 cases and tongue curling: 8 cases); and, 24 cases in the truncal-axial area (flexor: 12 cases, extensor: 7 cases, and lateral-extensor: 5 cases). Interestingly, pain, often a nonprominent symptom of dystonias, was frequently reported in 40/50 XDP cases with oromandibular dystonia and 18/24 XDP cases with truncal-axial dystonia. All BoNT-A procedures were performed under electromyography guidance. A "high potency, low dilution" BoNT-A protocol was applied for oromandibular, lingual, cranial, cervical, and distal limb dystonias; whereas for dystonias of the abdominal, paraspinal, and proximal limb muscles, a "low potency, high dilution" BoNT-A injection protocol was applied. Outcomes measures included: the global dystonia rating scale (DRS) and pain visual analog scale (VAS) reduction at week 4; duration of BoNT-A effects; and, side effect profile. The median DRS score after 4 weeks was 3 ("substantial improvement") for oromandibular and lingual dystonias and 2 ("moderate improvement") for truncal-axial dystonias. Pain reduction was significantly reduced (75%-80% in oromandibular; 30%-80% in truncal-axial dystonias). The median duration of BoNT-A effect was 16 weeks for oromandibular, 12 weeks for lingual, and 11 weeks for truncal-axial dystonias. Compared to a generally safe and well-tolerated BoNT-A injections for truncal

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

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Balint, B; Bhatia, K P

2015-04-01

Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia. Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations. Thus, new genes are being recognized for isolated dystonia, and the phenotype of known genes is broadening and now involves different combined dystonia syndromes. © 2015 EAN.

Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists.

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Raoofi, Saeed; Khorshidi, Hooman; Najafi, Maryam

2017-06-01

Oromandibular dystonia (OMD) is a rare focal neurological disorder that affects mouth, face, and jaws. This comprehensive literature review aimed to summarize the current evidence for etiology, diagnosis, and management of OMD and assess the possibility of dental origin of the disease and dental treatment plans for these patients. Different online databases namely PubMed, Google scholar, and Scopus were searched. The keywords "oromandibular dystonia", "orofaciomandibular dystonia", "orofacial-buccal dystonia", "lingual dystonia", "jaw dystonia", "cranial dystonia", and "adult-onset facial dystonia" were searched in the title and abstract of publications from 1970 to 2016. The inclusion criterion was the dental etiology and/or dental treatment. Out of 1260 articles, only 37 articles met the inclusion criteria. OMD can be caused or exacerbated through different dental treatments within which anyone is likely to be involved due to various reasons. Some novel methods employed to relieve this syndrome have led to certain cure or improvement of symptoms in several cases. OMD patients may refer to dentists with involuntary jaw movements and intraoral presentations. Thus, the dentists should be aware of the symptoms and signs and refer the suspicious cases. Dentists should also be familiar with special considerations when managing OMD patients.

Vitamin E treatment in tardive dystonia.

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Dannon, P N; Grunhaus, L; Iancu, I; Braf, A; Lepkifker, E

1997-10-01

Tardive dystonia is a disorder characterized by abnormally sustained posturing associated with the use of dopamine-receptor blocking agents such as antipsychotic drugs. However, the structural pathologic and pathophysiologic features of this disorder are unknown, and no consistently effective pharmacologic treatment is available. Patients with tardive dystonia mostly are young men. We present the case of one substantially improved with treatment by 1200 mg/d (IU) of vitamin E.

Proprioceptive dysfunction in focal dystonia: from experimental evidence to rehabilitation strategies.

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Laura eAvanzino

2014-12-01

Full Text Available Dystonia has historically been considered a disorder of the basal ganglia, mainly affecting planning and execution of voluntary movements. This notion comes from the observation that most lesions responsible for secondary dystonia involve the basal ganglia. However, what emerges from recent research is that dystonia is linked to the dysfunction of a complex neural network that comprises basal ganglia-thalamic-frontal cortex, but also the inferior parietal cortex and the cerebellum. While dystonia is clearly a motor problem, it turned out that sensory aspects are also fundamental, especially those related to proprioception.We outline experimental evidence for proprioceptive dysfunction in focal dystonia from intrinsic sensory abnormalities to impaired sensorimotor integration, that is the process by which sensory information is used to plan and execute volitional movements. Particularly, we will focus on proprioceptive aspects of dystonia, including: i processing of vibratory input, ii temporal discrimination of two passive movements, iii multimodal integration of visual-tactile and proprioceptive inputs and, iv motor control in the absence of visual feedback. We suggest that these investigations contribute not only to a better understanding of dystonia pathophysiology, but also to develop rehabilitation strategies aimed at facilitating the processing of proprioceptive input.

Bruxism in craniocervical dystonia: a prospective study.

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Borie, Laetitia; Langbour, Nicolas; Guehl, Dominique; Burbaud, Pierre; Ella, Bruno

2016-09-01

Bruxism pathophysiology remains unclear, and its occurrence has been poorly investigated in movement disorders. The aim of this study was to compare the frequency of bruxism in patients with craniocervical dystonia vs. normal controls and to determine its associated clinical features. This is a prospective-control study. A total of 114 dystonic subjects (45 facial dystonia, 69 cervical dystonia) and 182 controls were included. Bruxism was diagnosed using a hetero-questionnaire and a clinical examination performed by trained dentists. Occurrence of bruxism was compared between the different study populations. A binomial logistic regression analysis was used to determine which clinical features influenced bruxism occurrence in each population. The frequency of bruxism was significantly higher in the dystonic group than in normal controls but there was no difference between facial and cervical dystonia. It was also higher in women than in men. Bruxism features were similar between normal controls and dystonic patients except for a higher score of temporomandibular jaw pain in the dystonic group. The higher frequency of bruxism in dystonic patients suggests that bruxism is increased in patients with basal ganglia dysfunction but that its nature does not differ from that seen in bruxers from the normal population.

Cervical dystonia: about familial and sporadic cases in 88 patients

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Carlos Henrique F. Camargo

2014-02-01

Full Text Available Cervical dystonia (CD affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic. Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001. The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01. Generalized cases were more severe in patients with a family history (p<0.01. Sporadic patients had higher levels of pain than familial cases (p<0.05. We expect soon to present the results of genetic analyzes of these patients.

Proprioceptive Interaction between the Two Arms in a Single-Arm Pointing Task.

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Kazuyoshi Kigawa

Full Text Available Proprioceptive signals coming from both arms are used to determine the perceived position of one arm in a two-arm matching task. Here, we examined whether the perceived position of one arm is affected by proprioceptive signals from the other arm in a one-arm pointing task in which participants specified the perceived position of an unseen reference arm with an indicator paddle. Both arms were hidden from the participant's view throughout the study. In Experiment 1, with both arms placed in front of the body, the participants received 70-80 Hz vibration to the elbow flexors of the reference arm (= right arm to induce the illusion of elbow extension. This extension illusion was compared with that when the left arm elbow flexors were vibrated or not. The degree of the vibration-induced extension illusion of the right arm was reduced in the presence of left arm vibration. In Experiment 2, we found that this kinesthetic interaction between the two arms did not occur when the left arm was vibrated in an abducted position. In Experiment 3, the vibration-induced extension illusion of one arm was fully developed when this arm was placed at an abducted position, indicating that the brain receives increased proprioceptive input from a vibrated arm even if the arm was abducted. Our results suggest that proprioceptive interaction between the two arms occurs in a one-arm pointing task when the two arms are aligned with one another. The position sense of one arm measured using a pointer appears to include the influences of incoming information from the other arm when both arms were placed in front of the body and parallel to one another.

Basic timing abilities stay intact in patients with musician's dystonia.

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M C van der Steen

Full Text Available Task-specific focal dystonia is a movement disorder that is characterized by the loss of voluntary motor control in extensively trained movements. Musician's dystonia is a type of task-specific dystonia that is elicited in professional musicians during instrumental playing. The disorder has been associated with deficits in timing. In order to test the hypothesis that basic timing abilities are affected by musician's dystonia, we investigated a group of patients (N = 15 and a matched control group (N = 15 on a battery of sensory and sensorimotor synchronization tasks. Results did not show any deficits in auditory-motor processing for patients relative to controls. Both groups benefited from a pacing sequence that adapted to their timing (in a sensorimotor synchronization task at a stable tempo. In a purely perceptual task, both groups were able to detect a misaligned metronome when it was late rather than early relative to a musical beat. Overall, the results suggest that basic timing abilities stay intact in patients with musician's dystonia. This supports the idea that musician's dystonia is a highly task-specific movement disorder in which patients are mostly impaired in tasks closely related to the demands of actually playing their instrument.

Basic Timing Abilities Stay Intact in Patients with Musician's Dystonia

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van der Steen, M. C.; van Vugt, Floris T.; Keller, Peter E.; Altenmüller, Eckart

2014-01-01

Task-specific focal dystonia is a movement disorder that is characterized by the loss of voluntary motor control in extensively trained movements. Musician's dystonia is a type of task-specific dystonia that is elicited in professional musicians during instrumental playing. The disorder has been associated with deficits in timing. In order to test the hypothesis that basic timing abilities are affected by musician's dystonia, we investigated a group of patients (N = 15) and a matched control group (N = 15) on a battery of sensory and sensorimotor synchronization tasks. Results did not show any deficits in auditory-motor processing for patients relative to controls. Both groups benefited from a pacing sequence that adapted to their timing (in a sensorimotor synchronization task at a stable tempo). In a purely perceptual task, both groups were able to detect a misaligned metronome when it was late rather than early relative to a musical beat. Overall, the results suggest that basic timing abilities stay intact in patients with musician's dystonia. This supports the idea that musician's dystonia is a highly task-specific movement disorder in which patients are mostly impaired in tasks closely related to the demands of actually playing their instrument. PMID:24667273

Sensory Alterations in Patients with Isolated Idiopathic Dystonia: An Exploratory Quantitative Sensory Testing Analysis.

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Paracka, Lejla; Wegner, Florian; Blahak, Christian; Abdallat, Mahmoud; Saryyeva, Assel; Dressler, Dirk; Karst, Matthias; Krauss, Joachim K

2017-01-01

Abnormalities in the somatosensory system are increasingly being recognized in patients with dystonia. The aim of this study was to investigate whether sensory abnormalities are confined to the dystonic body segments or whether there is a wider involvement in patients with idiopathic dystonia. For this purpose, we recruited 20 patients, 8 had generalized, 5 had segmental dystonia with upper extremity involvement, and 7 had cervical dystonia. In total, there were 13 patients with upper extremity involvement. We used Quantitative Sensory Testing (QST) at the back of the hand in all patients and at the shoulder in patients with cervical dystonia. The main finding on the hand QST was impaired cold detection threshold (CDT), dynamic mechanical allodynia (DMA), and thermal sensory limen (TSL). The alterations were present on both hands, but more pronounced on the side more affected with dystonia. Patients with cervical dystonia showed a reduced CDT and hot detection threshold (HDT), enhanced TSL and DMA at the back of the hand, whereas the shoulder QST only revealed increased cold pain threshold and DMA. In summary, QST clearly shows distinct sensory abnormalities in patients with idiopathic dystonia, which may also manifest in body regions without evident dystonia. Further studies with larger groups of dystonia patients are needed to prove the consistency of these findings.

Diagnosis and treatment of pediatric onset isolated dystonia.

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Zorzi, Giovanna; Carecchio, Miryam; Zibordi, Federica; Garavaglia, Barbara; Nardocci, Nardo

2018-03-01

Isolated dystonia refers to a genetic heterogeneous group of progressive conditions with onset of symptoms during childhood or adolescence, progressive course with frequent generalization and marked functional impairment. There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. Genetic findings of the past years have widened the etiological spectrum and the phenotype. The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerging as another causes of pediatric onset dystonia, sometimes with a more complex phenotype, but their incidence is unknown and still a considerable number of cases remains genetically undetermined. Due to the severe disability of pediatric onset dystonia treatment remains unsatisfactory and still mainly based upon oral pharmacological agents. However, deep brain stimulation is now extensively applied with good to excellent results especially when patients are treated early during the course of the disease. Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

The role of dopamine and serotonin in cervical dystonia

NARCIS (Netherlands)

Zoons, E.

2018-01-01

Cervical dystonia (CD) is a movement disorder accompanied by non-motor symptoms like depressive symptoms and anxiety. Neuroimaging has been used to investigate brain regions involved in the pathophysiology of focal dystonia, including CD. We describe the used neuroimaging techniques and why focal

Recognising the common origins of dystonia and the development of human movement: A manifesto of unmet needs in isolated childhood dystonias

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Jean-Pierre Lin

2016-12-01

Full Text Available Dystonia in childhood may be severely disabling and often un-remitting and un-recognised. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy, autism, neurometabolic, neuroinflammatory and neurogenetic disorders. Collectively, there is a need to recognise the role of early postures and movements which characterise phases of normal fetal, infant and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of co-contraction is explored throughout infancy, childhood, young adulthood and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within cerebral palsy is reviewed. Original descriptions of cerebral palsy by William Gowers are reviewed and contemporary physiological demonstrations are used to illustrate support for an interpretation of the tonic labyrinthine response as a manifestation of dystonia. Early recognition and molecular diagnosis of childhood dystonia where possible is desirable for appropriate clinical stratification and future precision medicine and functional neurosurgery where appropriate.

Limb amputations in fixed dystonia: a form of body integrity identity disorder?

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Edwards, Mark J; Alonso-Canovas, Araceli; Schrag, Arnette; Bloem, Bastiaan R; Thompson, Philip D; Bhatia, Kailash

2011-07-01

Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with healthy limbs and patients with chronic regional pain syndrome who have sought amputation. Our cases, combined with recent data regarding disorders of mental rotation in patients with fixed dystonia, as well as previous data regarding body integrity identity disorder and amputations sought by patients with chronic regional pain syndrome, raise the possibility that patients with fixed dystonia might have a deficit in body schema that predisposes them to developing fixed dystonia and drives some to seek amputation. The outcome of amputation in fixed dystonia is invariably unfavorable. Copyright © 2011 Movement Disorder Society.

Temporal discrimination, a cervical dystonia endophenotype: penetrance and functional correlates.

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Kimmich, Okka; Molloy, Anna; Whelan, Robert; Williams, Laura; Bradley, David; Balsters, Joshua; Molloy, Fiona; Lynch, Tim; Healy, Daniel G; Walsh, Cathal; O'Riordan, Seán; Reilly, Richard B; Hutchinson, Michael

2014-05-01

The pathogenesis of adult-onset primary dystonia remains poorly understood. There is variable age-related and gender-related expression of the phenotype, the commonest of which is cervical dystonia. Endophenotypes may provide insight into underlying genetic and pathophysiological mechanisms of dystonia. The temporal discrimination threshold (TDT)-the shortest time interval at which two separate stimuli can be detected as being asynchronous-is abnormal both in patients with cervical dystonia and in their unaffected first-degree relatives. Functional magnetic resonance imaging (fMRI) studies have shown that putaminal activation positively correlates with the ease of temporal discrimination between two stimuli in healthy individuals. We hypothesized that abnormal temporal discrimination would exhibit similar age-related and gender-related penetrance as cervical dystonia and that unaffected relatives with an abnormal TDT would have reduced putaminal activation during a temporal discrimination task. TDTs were examined in a group of 192 healthy controls and in 158 unaffected first-degree relatives of 84 patients with cervical dystonia. In 24 unaffected first-degree relatives, fMRI scanning was performed during a temporal discrimination task. The prevalence of abnormal TDTs in unaffected female relatives reached 50% after age 48 years; whereas, in male relatives, penetrance of the endophenotype was reduced. By fMRI, relatives who had abnormal TDTs, compared with relatives who had normal TDTs, had significantly less activation in the putamina and in the middle frontal and precentral gyri. Only the degree of reduction of putaminal activity correlated significantly with worsening of temporal discrimination. These findings further support abnormal temporal discrimination as an endophenotype of cervical dystonia involving disordered basal ganglia circuits. © 2014 International Parkinson and Movement Disorder Society.

Deep brain stimulation for dystonia: patient selection and outcomes

NARCIS (Netherlands)

Speelman, J. D.; Contarino, M. F.; Schuurman, P. R.; Tijssen, M. A. J.; de Bie, R. M. A.

2010-01-01

In a literature survey, 341 patients with primary and 109 with secondary dystonias treated with deep brain stimulation (DBS) of the internal segment of the globus pallidus (GPi) were identified. In general, the outcomes for primary dystonias were more favourable compared to the secondary forms. For

Deep brain stimulation for dystonia : Patient selection and outcomes

NARCIS (Netherlands)

Speelman, J. D.; Contarino, M. F.; Schuurman, P. R.; Tijssen, M. A. J.; de Bie, R. M. A.

In a literature survey, 341 patients with primary and 109 with secondary dystonias treated with deep brain stimulation (DBS) of the internal segment of the globus pallidus (GPi) were identified. In general, the outcomes for primary dystonias were more favourable compared to the secondary forms. For

Botulinum toxin therapy for limb dystonias.

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Yoshimura, D M; Aminoff, M J; Olney, R K

1992-03-01

We investigated the effectiveness of botulinum toxin in 17 patients with limb dystonias (10 with occupational cramps, three with idiopathic dystonia unrelated to activity, and two each with post-stroke and parkinsonian dystonia) in a placebo-controlled, blinded study. We identified affected muscles clinically and by recording the EMG from implanted wire electrodes at rest and during performance of tasks that precipitated abnormal postures. There were three injections given with graded doses of toxin (average doses, 5 to 10, 10 to 20, and 20 to 40 units per muscle) and one with placebo, in random order. Subjective improvement occurred after 53% of injections of botulinum toxin, and this was substantial in 24%. Only one patient (7%) improved after placebo injection. Subjective improvement occurred in 82% of patients with at least one dose of toxin, lasting for 1 to 4 months. Response rates were similar between clinical groups. Objective evaluation failed to demonstrate significant improvement following treatment with toxin compared with placebo. The major side effect was transient focal weakness after 53% of injections of toxin.

The Anatomical Basis for Dystonia: The Motor Network Model

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H.A. Jinnah

2017-10-01

Full Text Available Background: The dystonias include a clinically and etiologically very diverse group of disorders. There are both degenerative and non-degenerative subtypes resulting from genetic or acquired causes. Traditionally, all dystonias have been viewed as disorders of the basal ganglia. However, there has been increasing appreciation for involvement of other brain regions including the cerebellum, thalamus, midbrain, and cortex. Much of the early evidence for these other brain regions has come from studies of animals, but multiple recent studies have been done with humans, in an effort to confirm or refute involvement of these other regions. The purpose of this article is to review the new evidence from animals and humans regarding the motor network model, and to address the issues important to translational neuroscience.Methods: The English literature was reviewed for articles relating to the neuroanatomical basis for various types of dystonia in both animals and humans.Results: There is evidence from both animals and humans that multiple brain regions play an important role in various types of dystonia. The most direct evidence for specific brain regions comes from animal studies using pharmacological, lesion, or genetic methods. In these studies, experimental manipulations of specific brain regions provide direct evidence for involvement of the basal ganglia, cerebellum, thalamus and other regions. Additional evidence also comes from human studies using neuropathological, neuroimaging, non-invasive brain stimulation, and surgical interventions. In these studies, the evidence is less conclusive, because discriminating the regions that cause dystonia from those that reflect secondary responses to abnormal movements is more challenging.Discussion: Overall, the evidence from both animals and humans suggests that different regions may play important roles in different subtypes of dystonia. The evidence so far provides strong support for the motor

Inhibitory rTMS applied on somatosensory cortex in Wilson's disease patients with hand dystonia.

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Lozeron, Pierre; Poujois, Aurélia; Meppiel, Elodie; Masmoudi, Sana; Magnan, Thierry Peron; Vicaut, Eric; Houdart, Emmanuel; Guichard, Jean-Pierre; Trocello, Jean-Marc; Woimant, France; Kubis, Nathalie

2017-10-01

Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study. A 20-min 1-Hz rTMS session, stereotaxically guided, was applied over the left somatosensory cortex in 13 WD patients with right dystonic writer's cramp. After 3 days, each patient was crossed-over to the alternative treatment. Patients were clinically evaluated before and immediately after each rTMS session with the Unified Wilson's Disease rating scale (UWDRS), the Writers' Cramp Rating Scale (WCRS), a specifically designed scale for handwriting difficulties in Wilson's disease patients (FAR, flow, accuracy, and rhythmicity evaluation), and a visual analog scale (VAS) for handwriting discomfort. No significant change in UWDRS, WCRS, VAS, or FAR scores was observed in patients treated with somatosensory inhibitory rTMS compared to the sham protocol. The FAR negatively correlated with UWDRS (r = -0.6; P = 0.02), but not with the WCRS score, disease duration, MRI diffusion lesions, or with atrophy scores. In our experimental conditions, a single inhibitory rTMS session applied over somatosensory cortex did not improve dystonic writer cramp in WD patients.

Muscle selection for treatment of cervical dystonia with botulinum toxin : A systematic review

NARCIS (Netherlands)

Nijmeijer, S. W. R.; Koelman, J. H. T. M.; Kamphuis, D. J.; Tijssen, M. A. J.

Rationale: Cervical dystonia, also called spasmodic torticollis, is the most common form of (primary) dystonia. Intramuscular injections with botulinum toxin are the first line of treatment for cervical dystonia. To optimise the treatment response to botulinum toxin correct muscles should be

Muscle selection for treatment of cervical dystonia with botulinum toxin - A systematic review

NARCIS (Netherlands)

Nijmeijer, S. W. R.; Koelman, J. H. T. M.; Kamphuis, D. J.; Tijssen, M. A. J.

2012-01-01

Rationale: Cervical dystonia, also called spasmodic torticollis, is the most common form of (primary) dystonia. Intramuscular injections with botulinum toxin are the first line of treatment for cervical dystonia. To optimise the treatment response to botulinum toxin correct muscles should be

Mind the gap: temporal discrimination and dystonia.

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Sadnicka, A; Daum, C; Cordivari, C; Bhatia, K P; Rothwell, J C; Manohar, S; Edwards, M J

2017-06-01

One of the most widely studied perceptual measures of sensory dysfunction in dystonia is the temporal discrimination threshold (TDT) (the shortest interval at which subjects can perceive that there are two stimuli rather than one). However the elevated thresholds described may be due to a number of potential mechanisms as current paradigms test not only temporal discrimination but also extraneous sensory and decision-making parameters. In this study two paradigms designed to better quantify temporal processing are presented and a decision-making model is used to assess the influence of decision strategy. 22 patients with cervical dystonia and 22 age-matched controls completed two tasks (i) temporal resolution (a randomized, automated version of existing TDT paradigms) and (ii) interval discrimination (rating the length of two consecutive intervals). In the temporal resolution task patients had delayed (P = 0.021) and more variable (P = 0.013) response times but equivalent discrimination thresholds. Modelling these effects suggested this was due to an increased perceptual decision boundary in dystonia with patients requiring greater evidence before committing to decisions (P = 0.020). Patient performance on the interval discrimination task was normal. Our work suggests that previously observed abnormalities in TDT may not be due to a selective sensory deficit of temporal processing as decision-making itself is abnormal in cervical dystonia. © 2017 EAN.

[Questionnaire survey of musician's dystonia among students of a music college].

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Konaka, Kuni; Mochizuki, Hideki

2015-01-01

Musician's dystonia is known as a task specific dystonia. Though it is thought to occur during a long course of repetitive performance, the actual circumstances that precipitate this condition are not clear. According to factual reports this disease is not commonly known, probably because many of these patients may not have been visiting a hospital. We prepared a questionnaire and did a survey among the students of a music college. This is the first questionnaire survey aimed at finding out the prevalence of musician's dystonia among the students of music. Among the 480 participants of this survey, 29% of the students had knowledge of this disorder and 1.25% of the students had dystonia while performing music.

EEG?EMG polygraphic study of dystonia and myoclonus in a case of Creutzfeldt?Jakob disease ?

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Hashimoto, Takao; Iwahashi, Teruaki; Ishii, Wataru; Yamamoto, Kanji; Ikeda, Shu-ichi

2015-01-01

We report on a patient with sporadic Creutzfeldt–Jakob disease (CJD) who showed dystonia, periodic myoclonus, and periodic sharp wave complexes (PSWCs) on EEG. The EEG–EMG polygraphic study revealed that dystonia appeared without relation to periodic myoclonus and PSWCs and that dystonia EMGs were strongly suppressed after periodic myoclonus EMGs. These findings suggest that dystonia has a pathogenesis different from that of periodic myoclonus and PSWCs, but dystonia and periodic myoclonus ma...

Basal ganglia modulation of thalamocortical relay in Parkinson's disease and dystonia.

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Guo, Yixin; Park, Choongseok; Worth, Robert M; Rubchinsky, Leonid L

2013-01-01

Basal ganglia dysfunction has being implied in both Parkinson's disease and dystonia. While these disorders probably involve different cellular and circuit pathologies within and beyond basal ganglia, there may be some shared neurophysiological pathways. For example, pallidotomy and pallidal Deep Brain Stimulation (DBS) are used in symptomatic treatment of both disorders. Both conditions are marked by alterations of rhythmicity of neural activity throughout basal ganglia-thalamocortical circuits. Increased synchronized oscillatory activity in beta band is characteristic of Parkinson's disease, while different frequency bands, theta and alpha, are involved in dystonia. We compare the effect of the activity of GPi, the output nuclei of the basal ganglia, on information processing in the downstream neural circuits of thalamus in Parkinson's disease and dystonia. We use a data-driven computational approach, a computational model of the thalamocortical (TC) cell modulated by experimentally recorded data, to study the differences and similarities of thalamic dynamics in dystonia and Parkinson's disease. Our analysis shows no substantial differences in TC relay between the two conditions. Our results suggest that, similar to Parkinson's disease, a disruption of thalamic processing could also be involved in dystonia. Moreover, the degree to which TC relay fidelity is impaired is approximately the same in both conditions. While Parkinson's disease and dystonia may have different pathologies and differ in the oscillatory content of neural discharge, our results suggest that the effect of patterning of pallidal discharge is similar in both conditions. Furthermore, these results suggest that the mechanisms of GPi DBS in dystonia may involve improvement of TC relay fidelity.

Genetic evaluation for TOR1-A (DYT1 in Brazilian patients with dystonia

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Carlos Henrique F. Camargo

2014-10-01

Full Text Available Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1 gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia.

Improvement of both dystonia and tics with 60 Hz pallidal deep brain stimulation.

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Hwynn, Nelson; Tagliati, Michele; Alterman, Ron L; Limotai, Natlada; Zeilman, Pamela; Malaty, Irene A; Foote, Kelly D; Morishita, Takashi; Okun, Michael S

2012-09-01

Deep brain stimulation has been utilized in both dystonia and in medication refractory Tourette syndrome. We present an interesting case of a patient with a mixture of disabling dystonia and Tourette syndrome whose coexistent dystonia and tics were successfully treated with 60 Hz-stimulation of the globus pallidus region.

[Sotos syndrome associated with focal dystonia].

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Bravo, M; Chacón, J; Bautista, E; Pérez-Camacho, I; Trujillo, A; Grande, M A

Sotos syndrome is a form of infantile gigantism characterized by excessive body size from the time of birth, particular facies, acromegalic changes and signs of non-progressive cerebral involvement. The etiology is unknown. Diagnosis is based on somatometric data and the particular phenotype traits. Biochemical and endocrine studies are normal. Torticollis is a focal dystonia and therefore more common in adults. A 20 year old woman with macrosomic features since birth presented with: weight 104 kg, height 182 cm; prognathism, hypertelorism, a broad over hanging forehead with a high hair line; large ears, hands and feet; torticollis towards the right with elevation and anteroversion of the right shoulder which caused symptomatic scoliosis. She was bradypsychic and rather slow in speech. The complementary tests done (cerebral and cervical CT and MR, bone gammography, evoked potentials, EMG-ENG, sural nerve biopsy, biopsy of skin and muscle, EEG and hormone and biochemistry studies) were normal. The torticollis was treated with botulinus toxin and improved considerably, as did the scoliosis. To date, dystonia has not been described in association with Sotos syndrome. This may be a causal association, or even perhaps hereditary, since the patient's mother had dystonia (in the form of blepharospasm).

Feedforward compensation for novel dynamics depends on force field orientation but is similar for the left and right arms.

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Reuter, Eva-Maria; Cunnington, Ross; Mattingley, Jason B; Riek, Stephan; Carroll, Timothy J

2016-11-01

There are well-documented differences in the way that people typically perform identical motor tasks with their dominant and the nondominant arms. According to Yadav and Sainburg's (Neuroscience 196: 153-167, 2011) hybrid-control model, this is because the two arms rely to different degrees on impedance control versus predictive control processes. Here, we assessed whether differences in limb control mechanisms influence the rate of feedforward compensation to a novel dynamic environment. Seventy-five healthy, right-handed participants, divided into four subsamples depending on the arm (left, right) and direction of the force field (ipsilateral, contralateral), reached to central targets in velocity-dependent curl force fields. We assessed the rate at which participants developed predictive compensation for the force field using intermittent error-clamp trials and assessed both kinematic errors and initial aiming angles in the field trials. Participants who were exposed to fields that pushed the limb toward ipsilateral space reduced kinematic errors more slowly, built up less predictive field compensation, and relied more on strategic reaiming than those exposed to contralateral fields. However, there were no significant differences in predictive field compensation or kinematic errors between limbs, suggesting that participants using either the left or the right arm could adapt equally well to novel dynamics. It therefore appears that the distinct preferences in control mechanisms typically observed for the dominant and nondominant arms reflect a default mode that is based on habitual functional requirements rather than an absolute limit in capacity to access the controller specialized for the opposite limb. Copyright © 2016 the American Physiological Society.

[Focal dystonia in musicians: Phenomenology and musical triggering factors].

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Aránguiz, R; Chana-Cuevas, P; Alburquerque, D; Curinao, X

2015-06-01

Dystonias are defined as a joint sustained and involuntary contraction of agonist and antagonist muscles, which can cause torsion, repetitive abnormal involuntary movements, and/or abnormal postures. One special group of dystonias are those known as occupational, which include dystonia disorders triggered by a repetitive motor activity associated with a specific professional activity or task. Musicians are a population particularly vulnerable to these types of dystonia, which are presented as a loss of coordination and voluntary motor control movements highly trained in musical interpretation. Our aim is to describe a clinical series of focal dystonias in musicians evaluated and treated in our centre. Data is presented on a clinical series of 12 musicians with occupational dystonia. Their history and phenomenology are described, as well as well as their outcome after therapy. Demographic details: Mean age 34.8 ± 11.8 years, 10 males (83.3%) and 2 females (16.7%). History of trauma in dystonic segment, 6 patients (50%); family history of neurological diseases in first-degree relatives, 6 patients (50%); occupational history according to music category, 8 patients (66.6%) were classical musicians and 4 patients (33.3%) were popular musicians. The dystonia syndrome was characterised by having a mean age of onset of 28.2 ± 11.3 years (range 18-57 years). The segment affected was the hand (91.7%) in 11 patients. Of all the musicians seen in the clinic, 9 of them (75%) received therapy. The majority of patients appeared to have triggering factors specific to musical execution and linked to the requirement of fine motor control. It should be mentioned that 50% of the musicians treated maintained their professional activity or position in the orchestra to which they belonged. The majority of our phenomenological findings are consistent with those reported in the current literature. However, it is worth mentioning the presence of triggering factors attributed to the

EEG–EMG polygraphic study of dystonia and myoclonus in a case of Creutzfeldt–Jakob disease

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Takao Hashimoto

2015-01-01

Full Text Available We report on a patient with sporadic Creutzfeldt–Jakob disease (CJD who showed dystonia, periodic myoclonus, and periodic sharp wave complexes (PSWCs on EEG. The EEG–EMG polygraphic study revealed that dystonia appeared without relation to periodic myoclonus and PSWCs and that dystonia EMGs were strongly suppressed after periodic myoclonus EMGs. These findings suggest that dystonia has a pathogenesis different from that of periodic myoclonus and PSWCs, but dystonia and periodic myoclonus may be generated through the sensorimotor cortex in CJD.

The occurrence of dystonia in upper-limb multiple sclerosis tremor.

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Van der Walt, A; Buzzard, K; Sung, S; Spelman, T; Kolbe, S C; Marriott, M; Butzkueven, H; Evans, A

2015-12-01

The pathophysiology of multiple sclerosis (MS) tremor is uncertain with limited phenotypical studies available. To investigate whether dystonia contributes to MS tremor and its severity. MS patients (n = 54) with and without disabling uni- or bilateral upper limb tremor were recruited (39 limbs per group). We rated tremor severity, writing and Archimedes spiral drawing; cerebellar dysfunction (SARA score); the Global Dystonia Scale (GDS) for proximal and distal upper limbs, dystonic posturing, mirror movements, geste antagoniste, and writer's cramp. Geste antagoniste, mirror dystonia, and dystonic posturing were more frequent and severe (p tremor severity in tremor compared to non-tremor patients. A 1-unit increase in distal dystonia predicted a 0.52-Bain unit (95% confidence interval (CI) 0.08-0.97), p = 0.022) increase in tremor severity and a 1-unit (95% CI 0.48-1.6, p = 0.001) increase in drawing scores. A 1-unit increase in proximal dystonia predicted 0.93-Bain unit increase (95% CI 0.45-1.41, p tremor severity and 1.5-units (95% CI 0.62-2.41, p = 0.002) increase in the drawing score. Cerebellar function in the tremor limb and tremor severity was correlated (p tremor suggesting that MS tremor pathophysiology involves cerebello-pallido-thalamo-cortical network dysfunction. © The Author(s), 2015.

Dystonia: Related and Differential Disorders

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... undertakes a specific action. The tremor is generally rhythmic and can vary from being only subtle to ... brain and neck imaging and blood and urine analysis. Cervical dystonia that affects adults usually occurs after ...

Acute hemifacial dystonia possibly induced by clebopride.

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Bosco, Domenico; Plastino, Massimiliano; Marcello, Maria Giovanna; Mungari, Pasquale; Fava, Antonietta

2009-01-01

Dystonic reactions produce twisting and repetitive movements or abnormal posturing. Severe dystonic reactions have been shown to occur in concert with numerous medications. This report details the case of a patient who developed hemifacial dystonia as acute side reaction from administration of clebopride for dyspeptic prophylaxis. When the drug was immediately stopped, the dystonic posture disappeared completely within 2 weeks. The use of clebopride may be associated with not only a reversible or persistent parkinsonism syndrome but also hemifacial dystonia; therefore, attention must be drawn to this possible side effect.

Bilateral dystonia in type 1 diabetes: a case report

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Yasuhara Akihiro

2008-11-01

Full Text Available Abstract Introduction Diabetic hemichorea-hemiballismus is a rare complication of type 2 diabetes. Here, we report a case with type 1 diabetes, with hemichorea and bilateral dystonia manifested as hyperglycemia-induced involuntary movement. Case presentation A 62-year-old Japanese women with body weight loss of 30 kg during the past year developed symptoms of thirst, polydipsia and polyuria. She also presented with hemichorea and bilateral dystonia for 5 days and extremely high plasma glucose (774 mg/dl, hemoglobin A1c (21.2% and glycated albumin (100% with ketosis. Based on the presence of glutamic acid decarboxylase antibodies (18,000 U/ml; normal Conclusion Hyperglycemia-induced involuntary movement is one of the manifestations of dystonia and hemichorea-hemiballism.

Early Illustrations of Geste Antagoniste in Cervical and Generalized Dystonia

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Broussolle, Emmanuel; Laurencin, Chloé; Bernard, Emilien; Thobois, Stéphane; Danaila, Teodor; Krack, Paul

2015-01-01

Background Geste antagoniste, or sensory trick, is a voluntary maneuver that temporarily reduces the severity of dystonic postures or movements. We present a historical review of early reports and illustrations of geste antagoniste. Results In 1894, Brissaud described this phenomenon in Paris in patients with torticollis. He noted that a violent muscular contraction could be reversed by a minor voluntary action. He considered the improvement obtained by what he called “simple mannerisms, childish behaviour or fake pathological movements” was proof of the psychogenic origin of what he named mental torticollis. This concept was supported by photographical illustrations of the patients. The term geste antagoniste was used by Brissaud’s pupils, Meige and Feindel, in their 1902 monograph on movement disorders. Other reports and illustrations of this sign were published in Europe between 1894 and 1906. Although not mentioned explicitly, geste antagoniste was also illustrated in a case report of generalized dystonia in Oppenheim’s 1911 seminal description of dystonia musculorum deformans in Berlin. Discussion Brissaud-Meige’s misinterpretation of the geste antagoniste unfortunately anchored the psychogenic origin of dystonia for decades. In New York, Herz brought dystonia back into the realm of organic neurology in 1944. Thereafter, it was given prominence by other authors, notably Fahn and Marsden in the 1970–1980s. Nowadays, neurologists routinely investigate for geste antagoniste when a dystonic syndrome is suspected, because it provides a further argument in favor of dystonia. The term alleviating maneuver was proposed in 2014 to replace sensory trick or geste antagoniste. This major sign is now part of the motor phenomenology of the 2013 Movement Disorder Society’s classification of dystonia. PMID:26417535

A new knock-in mouse model of l-DOPA-responsive dystonia.

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Rose, Samuel J; Yu, Xin Y; Heinzer, Ann K; Harrast, Porter; Fan, Xueliang; Raike, Robert S; Thompson, Valerie B; Pare, Jean-Francois; Weinshenker, David; Smith, Yoland; Jinnah, Hyder A; Hess, Ellen J

2015-10-01

Abnormal dopamine neurotransmission is associated with many different genetic and acquired dystonic disorders. For instance, mutations in genes critical for the synthesis of dopamine, including GCH1 and TH cause l-DOPA-responsive dystonia. Despite evidence that implicates abnormal dopamine neurotransmission in dystonia, the precise nature of the pre- and postsynaptic defects that result in dystonia are not known. To better understand these defects, we generated a knock-in mouse model of l-DOPA-responsive dystonia (DRD) mice that recapitulates the human p.381Q>K TH mutation (c.1141C>A). Mice homozygous for this mutation displayed the core features of the human disorder, including reduced TH activity, dystonia that worsened throughout the course of the active phase, and improvement in the dystonia in response to both l-DOPA and trihexyphenidyl. Although the gross anatomy of the nigrostriatal dopaminergic neurons was normal in DRD mice, the microstructure of striatal synapses was affected whereby the ratio of axo-spinous to axo-dendritic corticostriatal synaptic contacts was reduced. Microinjection of l-DOPA directly into the striatum ameliorated the dystonic movements but cerebellar microinjections of l-DOPA had no effect. Surprisingly, the striatal dopamine concentration was reduced to ∼1% of normal, a concentration more typically associated with akinesia, suggesting that (mal)adaptive postsynaptic responses may also play a role in the development of dystonia. Administration of D1- or D2-like dopamine receptor agonists to enhance dopamine signalling reduced the dystonic movements, whereas administration of D1- or D2-like dopamine receptor antagonists to further reduce dopamine signalling worsened the dystonia, suggesting that both receptors mediate the abnormal movements. Further, D1-dopamine receptors were supersensitive; adenylate cyclase activity, locomotor activity and stereotypy were exaggerated in DRD mice in response to the D1-dopamine receptor agonist SKF

An elusive persistent left superior vena cava draining into left atrium

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A. Soward; F.J. ten Cate (Folkert); P.M. Fioretti (Paolo); P.W.J.C. Serruys (Patrick); J.R.T.C. Roelandt (Jos)

1986-01-01

textabstractA case report of a persistent left superior vena cava draining into left atrium with a fibromuscular left ventricular outflow tract obstruction and a small atrial septal defect. The anomalous vessel escaped detection during two right and left heart catheterizations from the right arm and

Dystonia Associated with Idiopathic Slow Orthostatic Tremor

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Christopher Kobylecki

2016-02-01

Full Text Available Background: We aimed to characterize the clinical and electrophysiological features of patients with slow orthostatic tremor.Case Report: The clinical and neurophysiological data of patients referred for lower limb tremor on standing were reviewed. Patients with symptomatic or primary orthostatic tremor were excluded. Eight patients were identified with idiopathic slow 4–8 Hz orthostatic tremor, which was associated with tremor and dystonia in cervical and upper limb musculature. Coherence analysis in two patients showed findings different to those seen in primary orthostatic tremor.Discussion: Slow orthostatic tremor may be associated with dystonia and dystonic tremor.

Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia.

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Hye Ran Park

Full Text Available GPi (Internal globus pallidus DBS (deep brain stimulation is recognized as a safe, reliable, reversible and adjustable treatment in patients with medically refractory dystonia.This report describes the long-term clinical outcome of 36 patients implanted with GPi DBS at the Neurosurgery Department of Seoul National University Hospital.Nine patients with a known genetic cause, 12 patients with acquired dystonia, and 15 patients with isolated dystonia without a known genetic cause were included. When categorized by phenomenology, 29 patients had generalized, 5 patients had segmental, and 2 patients had multifocal dystonia. Patients were assessed preoperatively and at defined follow-up examinations postoperatively, using the Burke-Fahn-Marsden dystonia rating scale (BFMDRS for movement and functional disability assessment. The mean follow-up duration was 47 months (range, 12-84.The mean movement scores significantly decreased from 44.88 points preoperatively to 26.45 points at 60-month follow up (N = 19, P = 0.006. The mean disability score was also decreased over time, from 11.54 points preoperatively to 8.26 points at 60-month follow up, despite no statistical significance (N = 19, P = 0.073. When analyzed the movement and disability improvement rates at 12-month follow up point, no significant difference was noted according to etiology, disease duration, age at surgery, age of onset, and phenomenology. However, the patients with DYT-1 dystonia and isolated dystonia without a known genetic cause showed marked improvement.GPi DBS is a safe and efficient therapeutic method for treatment of dystonia patients to improve both movement and disability. However, this study has some limitations caused by the retrospective design with small sample size in a single-center.

A role for cerebellum in the hereditary dystonia DYT1

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Fremont, Rachel; Tewari, Ambika; Angueyra, Chantal; Khodakhah, Kamran

2017-01-01

DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients, possibly due to differential developmental compensation between rodents and humans. To address this issue, torsinA was acutely knocked down in select brain regions of adult mice using shRNAs. TorsinA knockdown in the cerebellum, but not in the basal ganglia, was sufficient to induce dystonia. In agreement with a potential developmental compensation for loss of torsinA in rodents, torsinA knockdown in the immature cerebellum failed to produce dystonia. Abnormal motor symptoms in knockdown animals were associated with irregular cerebellar output caused by changes in the intrinsic activity of both Purkinje cells and neurons of the deep cerebellar nuclei. These data identify the cerebellum as the main site of dysfunction in DYT1, and offer new therapeutic targets. DOI: http://dx.doi.org/10.7554/eLife.22775.001 PMID:28198698

Clinical and Phenomenological Characteristics of Patients with Task-Specific Lingual Dystonia: Possible Association with Occupation

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Kazuya Yoshida

2017-12-01

Full Text Available BackgroundLingual dystonia is a subtype of oromandibular dystonia, which is a movement disorder characterized by involuntary sustained or intermittent contraction of the masticatory and/or tongue muscles. Lingual dystonia interferes with important daily activities, such as speaking, chewing, and swallowing, resulting in vocational and social disability.ObjectiveThe aim of this study was to investigate a possible relationship between occupation and the development of lingual dystonia.MethodsPhenomenological and clinical characteristics of 95 patients [53 females (55.8% and 42 males (44.2%, mean age 48.0 years] with task-specific, speech-induced lingual dystonia were analyzed. Structured interviews were carried out to obtain information regarding primary occupation, including overtime work and stress during work. The factors that might have influenced the development of lingual dystonia were estimated using multivariate logistic regression analysis of the 95 patients with lingual dystonia and 95 controls [68 females (71.6% and 27 males (28.4%, mean age 47.2 years] with temporomandibular disorders.ResultsOverall, 84.2% of the patients had regular occupations; 73.8% of the patients with regular occupations reported working overtime more than twice a week, and 63.8% of them experienced stress at the workplace. Furthermore, 82.1% of the patients had engaged in occupations that required them to talk to customers or other people under stressful situations over prolonged periods of time for many years (mean: 15.6 years. The most common occupation was sales representative (17.9%, followed by telephone operator (13.7%, customer service representative (10.5%, health care worker (9.5%, waiter or waitress (5.3%, receptionist (5.3%, and cashier (5.3%. Twenty-nine patients (30.5% had tardive lingual dystonia. Logistic regression analyses revealed that frequent requirements for professional speaking (p = 0.011, odds ratio: 5.66, high stress during work

Primary Dystonia: Conceptualizing the Disorder through a Structural Brain Imaging Lens

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Kristina Simonyan

2013-06-01

Full Text Available Background: Dystonia is a hyperkinetic movement disorder of involuntary, twisting repetitive movements. The anatomical structures and pathways implicated in its pathogenesis as well as their relationship to the neurophysiological paradigm of abnormal surround inhibition, maladaptive plasticity and impaired sensorimotor integration remain not well delineated. Objective: We review the use of high-resolution structural brain imaging using voxel-based morphometry (VBM and diffusion tensor imaging (DTI techniques for evaluation of brain changes in primary torsion dystonia and their relationships to the pathophysiology of this disorder. Methods: A search in PubMed was conducted to identify the relevant literature. Discussion: Structural imaging has enhanced our understanding of the pathophysiological mechanisms of dystonia. In particular, VBM and DTI data have revealed microstructural disturbances in the basal ganglia, sensorimotor cortices and cerebellum along with aberrations in the cortico-striato-pallido-thalamic and cerebello-thalamo-cortical pathways.  When combined with functional brain imaging and neurophysiological modalities, a structure-function relationship can be established in the dystonia brain network at the sensorimotor, plasticity, cortical disinhibition and cerebellar outflow connectivity levels. Structural imaging highlighted new anatomical substrates and, with a combined structural-functional approach, has offered new opportunities for investigation of the neurodevelopmental, environmental and/or genetic interplay in the brain networks of dystonia patients. 

Clinical Characteristics of Voice, Speech, and Swallowing Disorders in Oromandibular Dystonia

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Kreisler, Alexandre; Vepraet, Anne Caroline; Veit, Solène; Pennel-Ployart, Odile; Béhal, Hélène; Duhamel, Alain; Destée, Alain

2016-01-01

Purpose: To better define the clinical characteristics of idiopathic oromandibular dystonia, we studied voice, speech, and swallowing disorders and their impact on activities of daily living. Method: Fourteen consecutive patients with idiopathic oromandibular dystonia and 14 matched, healthy control subjects were included in the study. Results:…

Reorganization of the Human Somatosensory Cortex in Hand Dystonia

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Maria Jose Catalan

2012-05-01

Full Text Available Background and Purpose: Abnormalities of finger representations in the somatosensory cortex have been identified in patients with focal hand dystonia. Measuring blood flow with positron emission tomography (PET can be use to demonstrate functional localization of receptive fields. Methods: A vibratory stimulus was applied to the right thumb and little finger of six healthy volunteers and six patients with focal hand dystonia to map their receptive fields using H215O PET. Results: The cortical finger representations in the primary somatosensory cortex were closer to each other in patients than in normal subjects. No abnormalities were found in secondary somatosensory cortex, but the somatotopy there is less well distinguished. Conclusions: These data confirm prior electrophysiological and functional neuroimaging observations showing abnormalities of finger representations in somatosensory cortex of patients with focal hand dystonia.

Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature

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Mohammad Javad Saeedi Borujeni

2017-01-01

Full Text Available Introduction:Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia. Case Report:In this paper a 7.5-year-old boy suffering from laryngeal dystonia with bilateral lesions in Globus Pallidus is presented. The patient also suffered from swallowing problems, monotone voice, vocal tremor, hypersensitivity of gag reflex, and stuttering. Drug treatment failed to cure him; therefore, he was referred to rehabilitation therapy.  Conclusion:In conclusion, special attention should be brought upon laryngeal dystonia, especially in patients showing Extra-pyramidal symptoms and/or abnormalities of the basal ganglia. In children, laryngeal dystonia may be potentially fatal. Lack of consideration for this condition during rehabilitation therapy can lead to serious consequences for a child.

The effectiveness of physiotherapy for cervical dystonia: a systematic literature review

NARCIS (Netherlands)

Pauw, J. De; Velden, K. van der; Meirte, J.; Daele, U. Van; Truijen, S.; Cras, P.; Mercelis, R.; Hertogh, W. de

2014-01-01

Cervical dystonia is a form of adult-onset, focal dystonia characterized by involuntary contractions of the neck muscles, leading to a disabling, abnormal head posture. CD has a great impact on the activities of daily living (ADL) and quality of life. Currently, the most widely used and recommended

Therapeutic effects of flunitrazepan in dystonias and torticollis preliminary communication

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Raul Marino Jr.

1993-06-01

Full Text Available A new form of clinical treatment is proposed for dystonias and torticollis using flunitrazepan (FN, a powerful agonist of all benzodiazepine receptors of GABA neurons. FN has a specific effect in dystonic patients, specially those in which the hypnotic effect of this drug is absent or diminished, thus suggesting the existence of two different neurochemical categories of dystonias.

Altered sensorimotor activation patterns in idiopathic dystonia-an activation likelihood estimation meta-analysis of functional brain imaging studies

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Løkkegaard, Annemette; Herz, Damian M; Haagensen, Brian Numelin

2016-01-01

Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements or postures. Functional neuroimaging studies have yielded abnormal task-related sensorimotor activation in dystonia, but the results appear to be rather variable across studies....... Further, study size was usually small including different types of dystonia. Here we performed an activation likelihood estimation (ALE) meta-analysis of functional neuroimaging studies in patients with primary dystonia to test for convergence of dystonia-related alterations in task-related activity...... postcentral gyrus, right superior temporal gyrus and dorsal midbrain. Apart from the midbrain cluster, all between-group differences in task-related activity were retrieved in a sub-analysis including only the 14 studies on patients with focal dystonia. For focal dystonia, an additional cluster of increased...

Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.

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Shakkottai, Vikram G; Batla, Amit; Bhatia, Kailash; Dauer, William T; Dresel, Christian; Niethammer, Martin; Eidelberg, David; Raike, Robert S; Smith, Yoland; Jinnah, H A; Hess, Ellen J; Meunier, Sabine; Hallett, Mark; Fremont, Rachel; Khodakhah, Kamran; LeDoux, Mark S; Popa, Traian; Gallea, Cécile; Lehericy, Stéphane; Bostan, Andreea C; Strick, Peter L

2017-04-01

A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia. Data about brain structure, cerebellar metabolism, cerebellar connections, and noninvasive cerebellar stimulation that support (or not) a role for the cerebellum in human dystonia. Connections between the cerebellum and motor cortical and sub-cortical structures that could support a role for the cerebellum in dystonia. Overall points of consensus include: Neuronal dysfunction originating in the cerebellum can drive dystonic movements in rodent model systems. Imaging and neurophysiological studies in humans suggest that the cerebellum plays a role in the pathophysiology of dystonia, but do not provide conclusive evidence that the cerebellum is the primary or sole neuroanatomical site of origin.

Changes in the bilateral pulse transit time difference with a moving arm.

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Jiang, Xinge; Wei, Shoushui; Zheng, Dingchang; Huang, Peng; Liu, Chengyu

2018-04-20

Changes of pulse transit time (PTT) induced by arm position were studied for unilateral arm. However, consistency of the PTT changes was not validated for both arm sides. We aimed to quantify the PTT changes between horizontal and non-horizontal positions from right arm and left arm in order to explore the consistency of both arms. Twenty-four normal subjects aged between 21 and 50 (14 male and 10 female) years were enrolled. Left and right radial artery pulses were synchronously recorded from 24 healthy subjects with one arm (left or right) at five angles (90∘, 45∘, 0∘, -45∘ and -90∘) and the other arm at the horizontal level (0∘) for reference. The overall mean PTT changes at the five angles (from 90∘ to -90∘) in the left arm (right as reference) were 16.1, 12.3, -0.5, -2.5 and -2.6 ms, respectively, and in the right arm (left as reference) were 18.0, 12.6, 1.6, -1.6 and -2.0 ms, respectively. Obvious differences were not found in the PTT changes between the two arms (left arm moving or right arm moving) under each of the five different positions (all P> 0.05).

X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics

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Raymond L. Rosales

2010-10-01

Full Text Available The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

Limb amputations in fixed dystonia: A form of body integrity identity disorder?

NARCIS (Netherlands)

Edwards, M.J.; Alonso-Canovas, A.; Schrag, A.; Bloem, B.R.; Thompson, P.D.; Bhatia, K.

2011-01-01

Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought

Complex regional pain syndrome with associated chest wall dystonia: a case report

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Schwartzman Robert J

2011-09-01

Full Text Available Abstract Patients with complex regional pain syndrome (CRPS often suffer from an array of associated movement disorders, including dystonia of an affected limb. We present a case of a patient with long standing CRPS after a brachial plexus injury, who after displaying several features of the movement disorder previously, developed painful dystonia of chest wall musculature. Detailed neurologic examination found palpable sustained contractions of the pectoral and intercostal muscles in addition to surface allodynia. Needle electromyography of the intercostal and paraspinal muscles supported the diagnosis of dystonia. In addition, pulmonary function testing showed both restrictive and obstructive features in the absence of a clear cardiopulmonary etiology. Treatment was initiated with intrathecal baclofen and the patient had symptomatic relief and improvement of dystonia. This case illustrates a novel form of the movement disorder associated with CRPS with response to intrathecal baclofen treatment.

Multifocal dystonia, Clinical feature of Hallervorden-Spatz

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Ghelichkhani H

1998-09-01

Full Text Available Hallervorden-spatz disease is an inherited metabolic disorder with autosomal recessive trait. Onset is in late childhood or early adolescence. Clinical manifestation is variable but pyramidal and extrapyramidal signs are often prominent. Many of patients show progressive dementia and extrapyramidal symptoms. Ataxia or myoclonus is reported in the course of the disease in individual cases. Focal dystonias including tongue, eyelids (blepharospasm and optic atrophy, retinitis pigmentosa, rarely familial parkinsonism are also reported. Pathologically pigmentary degeneration of globus pallidus, substantia nigra (pars reticular and red nucleus is characteristic. In our case the main clinical feature was multifocal dystonia without obvious pyramidal or other extrapyramidal symptoms, and diagnosis was based on clinical and MRI findings.

Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

LENUS (Irish Health Repository)

Kimmich, Okka

2012-02-01

Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

Science.gov (United States)

Kimmich, Okka; Bradley, David; Whelan, Robert; Mulrooney, Nicola; Reilly, Richard B; Hutchinson, Siobhan; O'Riordan, Sean; Hutchinson, Michael

2011-09-01

Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects 50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige's syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1/61 (2%) control subjects, 27/32 (84%) patients with adult-onset primary torsion dystonia and 32/73 (44%) unaffected relatives [siblings (20/36; 56%), offspring (11/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

DEFF Research Database (Denmark)

Engl, Gertraud; Florian, Stefan; Tranebjærg, Lisbeth

2012-01-01

Deafness-Dystonia-Optic Neuropathy (DDON) Syndrome is a rare X-linked progressive neurodegenerative disorder resulting from mutations in the TIMM8A gene encoding for the deafness dystonia protein 1 (DDP1). Despite important progress in identifying and characterizing novel mutations in this gene...

A De Novo Mutation in Causes Generalized Dystonia in 2 Unrelated Children

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Yasemin Gulcan Kurt MD

2016-03-01

Full Text Available Dystonia is often associated with the symmetrical basal ganglia lesions of Leigh syndrome. However, it has also been associated with mitochondrial ND mutations, with or without Leber hereditary optic neuropathy. The m.14459G>A mutation in ND6 causes dystonia with or without familial Leber hereditary optic neuropathy. We report heteroplasmic 14459G>A mutations in 2 unrelated children with nonmaternally inherited generalized dystonia and showing bilateral magnetic resonance imaging lesions in nucleus pallidus and putamen. Both children have reached their teenage years, and they are intellectually active, despite their motor problems.

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

DEFF Research Database (Denmark)

Ha, Ainhi D; Parratt, Kaitlyn L; Rendtorff, Nanna D

2012-01-01

of their dystonia regardless of age of onset. Within our 3 kindreds, we observed relative intrafamilial homogeneity but interfamilial variation. The median time to the development of moderate-severely disabling dystonia in these subjects was 11 years. Associated features included progressive cognitive decline......, pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand...

Bilateral pallidotomy for generalized dystonia Palidotomia bilateral para distonias generalizadas

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Hélio A. G. Teive

2001-06-01

Full Text Available OBJECTIVE: To evaluate the efficacy and safety of bilateral pallidotomies in five patients with generalized dystonia. BACKGROUND: Generalized dystonias are frequently a therapeutic challenge, with poor responses to pharmacological treatment. GPi (globus pallidus internus pallidotomies for Parkinson's disease ameliorate all kinds of dyskinesias/dystonia, and recent studies reported a marked improvement of refractory dystonias with this procedure. METHODS: Five patients with generalized dystonias refractory to medical treatment were selected; one posttraumatic and four idiopathic. The decision to perform bilateral procedures was based on the predominant axial involvement in these patients. Dystonia severity was assessed with the Burke-Fahn-Marsden Dystonia Scale (BFM. Simultaneous procedures were performed in all but one patient, who had a staged procedure. They were reevaluated with the same scale (BFM by an unblinded rater at 1, 2, 3, 30, 60, 90, 120 and 180 days post-operatively. RESULTS: The four patients with idiopathic dystonia showed a progressive improvement up to three months; the patient with posttraumatic dystonia relapsed at three months. One patient had a marked improvement, being able to discontinue all the medications. A mean decrease in the BFM scores of 52,58% was noted. One patient had a trans-operative motor seizure followed by a transient hemiparesis secondary to rack hemorrhage; other was lethargic up to three days after the procedure. CONCLUSIONS: Our results show that bilateral GPi pallidotomies may be a safe and effective approach to medically refractory generalized dystonias; it can also be speculated that the posttraumatic subgroup may not benefit with this procedure.As distonias generalizadas são freqüentemente um desafio terapêutico, com pobres respostas aos tratamentos farmacológicos. As cirurgias estereotáxicas, como a palidotomia, têm sido utilizadas com êxito no tratamento da doença de Parkinson e estudos

Reflex mechanisms in CRPS-related dystonia

NARCIS (Netherlands)

Mugge, W.

2011-01-01

Complex Regional Pain Syndrome (CRPS) is a disabling syndrome associated with sensory (e.g., burning pain, allodynia, hyperalgesia), autonomic (e.g., edema, skin color and temperature changes), and motor impairments (e.g., tremor, myoclonus, dystonia). Approximately 25% of the patients with CRPS

Determinants of disability in cervical dystonia

NARCIS (Netherlands)

van den Dool, J.; Tijssen, M. A. J.; Koelman, J. H. T. M.; Engelbert, R. H. H.; Visser, B.

Background: Cervical dystonia (CD) is characterized by involuntary muscle contractions causing abnormal postures and/or twisting movements of the head and neck. These motor symptoms can have a major impact on disability. Treatment with botulinum toxin injections aims to reduce motor symptoms, and

Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

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Eva Hebert

2017-10-01

Full Text Available Mutations in RAB (member of the Ras superfamily genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD and writer’s dystonia (WD are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing revealed a rare missense variant (c.586A>G; p.Ile196Val in RAB12 in two of three MD/WD families. Next, we tested 916 additional dystonia patients; 512 Parkinson’s disease patients; and 461 healthy controls for RAB12 variants and identified 10 additional carriers of rare missense changes among dystonia patients (1.1% but only one carrier in non-dystonic individuals (0.1%; p = 0.005. The detected variants among index patients comprised p.Ile196Val (n = 6; p.Ala174Thr (n = 3; p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. Two relatives of MD patients with WD also carried p.Ile196Val. The two variants identified in MD patients (p.Ile196Val; p.Gly13Asp were characterized on endogenous levels in patient-derived fibroblasts and in two RAB12-overexpressing cell models. The ability to hydrolyze guanosine triphosphate (GTP, so called GTPase activity, was increased in mutants compared to wildtype. Furthermore, subcellular distribution of RAB12 in mutants was altered in fibroblasts. Soluble Transferrin receptor 1 levels were reduced in the blood of all three tested p.Ile196Val carriers. In conclusion, we demonstrate an enrichment of missense changes among dystonia patients. Functional characterization revealed altered enzyme activity and lysosomal distribution in mutants suggesting a contribution of RAB12 variants to MD and other dystonias.

Motor cortex stimulation does not improve dystonia secondary to a focal basal ganglia lesion.

Science.gov (United States)

Rieu, Isabelle; Aya Kombo, Magaly; Thobois, Stéphane; Derost, Philippe; Pollak, Pierre; Xie, Jing; Pereira, Bruno; Vidailhet, Marie; Burbaud, Pierre; Lefaucheur, Jean Pascal; Lemaire, Jean Jacques; Mertens, Patrick; Chabardes, Stephan; Broussolle, Emmanuel; Durif, Franck

2014-01-14

To assess the efficacy of epidural motor cortex stimulation (MCS) on dystonia, spasticity, pain, and quality of life in patients with dystonia secondary to a focal basal ganglia (BG) lesion. In this double-blind, crossover, multicenter study, 5 patients with dystonia secondary to a focal BG lesion were included. Two quadripolar leads were implanted epidurally over the primary motor (M1) and premotor cortices, contralateral to the most dystonic side. The leads were placed parallel to the central sulcus. Only the posterior lead over M1 was activated in this study. The most lateral or medial contact of the lead (depending on whether the dystonia predominated in the upper or lower limb) was selected as the anode, and the other 3 as cathodes. One month postoperatively, patients were randomly assigned to on- or off-stimulation for 3 months each, with a 1-month washout between the 2 conditions. Voltage, frequency, and pulse width were fixed at 3.8 V, 40 Hz, and 60 μs, respectively. Evaluations of dystonia (Burke-Fahn-Marsden Scale), spasticity (Ashworth score), pain intensity (visual analog scale), and quality of life (36-Item Short Form Health Survey) were performed before surgery and after each period of stimulation. Burke-Fahn-Marsden Scale, Ashworth score, pain intensity, and quality of life were not statistically significantly modified by MCS. Bipolar epidural MCS failed to improve any clinical feature in dystonia secondary to a focal BG lesion. This study provides Class I evidence that bipolar epidural MCS with the anode placed over the motor representation of the most affected limb failed to improve any clinical feature in dystonia secondary to a focal BG lesion.

Amitriptyline induced cervical dystonia

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Shivanand B Hiremath

2016-01-01

Full Text Available Tricyclic antidepressants (TCAs, such as amitriptyline, have many side effects. But extrapyramidal tract symptom is an uncommon side effect of these drugs. Here, we report a case of a 28-year-old male who is suffering from amitriptyline induced cervical dystonia. Though rare, this side effect is an uncomfortable condition and may influence drug compliance. So clinicians should be aware of this side effect while treating a patient with amitriptyline.

Effects of age, sex and arm on the precision of arm position sense—left-arm superiority in healthy right-handers

OpenAIRE

Schmidt, Lena; Depper, Lena; Kerkhoff, Georg

2013-01-01

Position sense is an important proprioceptive ability. Disorders of arm position sense (APS) often occur after unilateral stroke, and are associated with a negative functional outcome. In the present study we assessed horizontal APS by measuring angular deviations from a visually defined target separately for each arm in a large group of healthy subjects. We analyzed the accuracy and instability of horizontal APS as a function of age, sex and arm. Subjects were required to specify verbally th...

Rating scales for dystonia in cerebral palsy: reliability and validity

OpenAIRE

Monbaliu, Elegast; Ortibus, Els; Roelens, F; Desloovere, Kaat; Declerck, Jan; Prinzie, Peter; De Cock, Paul; Feys, Hilde

2010-01-01

AIM: This study investigated the reliability and validity of the Barry-Albright Dystonia Scale (BADS), the Burke-Fahn-Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). METHOD: Three raters independently scored videotapes of 10 patients (five males, five females; mean age 13 y 3 mo, SD 5 y 2 mo, range 5-22 y). One patient each was classified at levels I-IV in the Gross Motor Function Classification System a...

Central Motor Conduction Studies and Diagnostic Magnetic Resonance Imaging in Children with Severe Primary and Secondary Dystonia

Science.gov (United States)

McClelland, Verity; Mills, Kerry; Siddiqui, Ata; Selway, Richard; Lin, Jean-Pierre

2011-01-01

Aim: Dystonia in childhood has many causes. Imaging may suggest corticospinal tract dysfunction with or without coexistent basal ganglia damage. There are very few published neurophysiological studies on children with dystonia; one previous study has focused on primary dystonia. We investigated central motor conduction in 62 children (34 males, 28…

Genetics Home Reference: task-specific focal dystonia

Science.gov (United States)

... of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a ... cramps and spasms that occur while playing a musical instrument. This condition can affect amateur or professional musicians, ...

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

DEFF Research Database (Denmark)

Djarmati, Ana; Schneider, Susanne A; Lohmann, Katja

2009-01-01

-onset generalised dystonia with spasmodic dysphonia. This combination of symptoms might be a characteristic feature of DYT6 dystonia and could be useful in the differential diagnosis of DYT1, DYT4, DYT12, and DYT17 dystonia. In addition to the identified mutations, a rare non-coding substitution in THAP1 might...

Programming Deep Brain Stimulation for Tremor and Dystonia: The Toronto Western Hospital Algorithms.

Science.gov (United States)

Picillo, Marina; Lozano, Andres M; Kou, Nancy; Munhoz, Renato Puppi; Fasano, Alfonso

2016-01-01

Deep brain stimulation (DBS) is an effective treatment for essential tremor (ET) and dystonia. After surgery, a number of extensive programming sessions are performed, mainly relying on neurologist's personal experience as no programming guidelines have been provided so far, with the exception of recommendations provided by groups of experts. Finally, fewer information is available for the management of DBS in ET and dystonia compared with Parkinson's disease. Our aim is to review the literature on initial and follow-up DBS programming procedures for ET and dystonia and integrate the results with our current practice at Toronto Western Hospital (TWH) to develop standardized DBS programming protocols. We conducted a literature search of PubMed from inception to July 2014 with the keywords "balance", "bradykinesia", "deep brain stimulation", "dysarthria", "dystonia", "gait disturbances", "initial programming", "loss of benefit", "micrographia", "speech", "speech difficulties" and "tremor". Seventy-six papers were considered for this review. Based on the literature review and our experience at TWH, we refined three algorithms for management of ET, including: (1) initial programming, (2) management of balance and speech issues and (3) loss of stimulation benefit. We also depicted algorithms for the management of dystonia, including: (1) initial programming and (2) management of stimulation-induced hypokinesia (shuffling gait, micrographia and speech impairment). We propose five algorithms tailored to an individualized approach to managing ET and dystonia patients with DBS. We encourage the application of these algorithms to supplement current standards of care in established as well as new DBS centers to test the clinical usefulness of these algorithms in supplementing the current standards of care. Copyright © 2016 Elsevier Inc. All rights reserved.

Functional activity of the sensorimotor cortex and cerebellum relates to cervical dystonia symptoms.

Science.gov (United States)

Burciu, Roxana G; Hess, Christopher W; Coombes, Stephen A; Ofori, Edward; Shukla, Priyank; Chung, Jae Woo; McFarland, Nikolaus R; Wagle Shukla, Aparna; Okun, Michael S; Vaillancourt, David E

2017-09-01

Cervical dystonia (CD) is the most common type of focal dystonia, causing abnormal movements of the neck and head. In this study, we used noninvasive imaging to investigate the motor system of patients with CD and uncover the neural correlates of dystonic symptoms. Furthermore, we examined whether a commonly prescribed anticholinergic medication in CD has an effect on the dystonia-related brain abnormalities. Participants included 16 patients with CD and 16 healthy age-matched controls. We collected functional MRI scans during a force task previously shown to extensively engage the motor system, and diffusion and T1-weighted MRI scans from which we calculated free-water and brain tissue densities. The dystonia group was also scanned ca. 2 h after a 2-mg dose of trihexyphenidyl. Severity of dystonia was assessed pre- and post-drug using the Burke-Fahn-Marsden Dystonia Rating Scale. Motor-related activity in CD was altered relative to controls in the primary somatosensory cortex, cerebellum, dorsal premotor and posterior parietal cortices, and occipital cortex. Most importantly, a regression model showed that increased severity of symptoms was associated with decreased functional activity of the somatosensory cortex and increased activity of the cerebellum. Structural imaging measures did not differ between CD and controls. The single dose of trihexyphenidyl altered the fMRI signal in the somatosensory cortex but not in the cerebellum. Symptom severity was not significantly reduced post-treatment. Findings show widespread changes in functional brain activity in CD and most importantly that dystonic symptoms relate to disrupted activity in the somatosensory cortex and cerebellum. Hum Brain Mapp 38:4563-4573, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

PET activation in basal ganglia disorders: Parkinson's disease and dystonia

International Nuclear Information System (INIS)

Ceballos-Baumann, A.O.; Boecker, H.; Conrad, B.

1997-01-01

This article reviews PET activation studies with performance of different motor paradigms (joy-stick movements, imagination of movement, writing) in patients with movement disorders. The focus will be on Parkinson's disease (PD) and dystonia. PET findings will be related to clinical and electrophysiological observations. PET activation studies before and after therapeutic interventions such as pallidotomy in Parkinson's disease and botulinum toxin in writer's cramp are described. The contribution of PET activation studies to the understanding of the pathophysiology of dystonia and PD is discussed. (orig.) [de

Does dystonic muscle activity affect sense of effort in cervical dystonia?

OpenAIRE

Carment, Lo?c; Maier, Marc A.; Sangla, Sophie; Guiraud, Vincent; Mesure, Serge; Vidailhet, Marie; Lindberg, P?vel G; Bleton, Jean-Pierre

2017-01-01

International audience; BackgroundFocal 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.MethodsNeck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects. Subjects performed force-match...

Modulation of Muscle Tone and Sympathovagal Balance in Cervical Dystonia Using Percutaneous Stimulation of the Auricular Vagus Nerve.

Science.gov (United States)

Kampusch, Stefan; Kaniusas, Eugenijus; Széles, Jozsef C

2015-10-01

Primary cervical dystonia is characterized by abnormal, involuntary, and sustained contractions of cervical muscles. Current ways of treatment focus on alleviating symptomatic muscle activity. Besides pharmacological treatment, in severe cases patients may receive neuromodulative intervention such as deep brain stimulation. However, these (highly invasive) methods have some major drawbacks. For the first time, percutaneous auricular vagus nerve stimulation (pVNS) was applied in a single case of primary cervical dystonia. Auricular vagus nerve stimulation was already shown to modulate the (autonomous) sympathovagal balance of the body and proved to be an effective treatment in acute and chronic pain, epilepsy, as well as major depression. pVNS effects on cervical dystonia may be hypothesized to rely upon: (i) the alteration of sensory input to the brain, which affects structures involved in the genesis of motoric and nonmotoric dystonic symptoms; and (ii) the alteration of the sympathovagal balance with a sustained impact on involuntary movement control, pain, quality of sleep, and general well-being. The presented data provide experimental evidence that pVNS may be a new alternative and minimally invasive treatment in primary cervical dystonia. One female patient (age 50 years) suffering from therapy refractory cervical dystonia was treated with pVNS over 20 months. Significant improvement in muscle pain, dystonic symptoms, and autonomic regulation as well as a subjective improvement in motility, sleep, and mood were achieved. A subjective improvement in pain recorded by visual analog scale ratings (0-10) was observed from 5.42 to 3.92 (medians). Muscle tone of the mainly affected left and right trapezius muscle in supine position was favorably reduced by about 96%. Significant reduction of muscle tone was also achieved in sitting and standing positions of the patient. Habituation to stimulation leading to reduced stimulation efficiency was observed and

The clinical syndrome of primary tic disorder associated with dystonia: a large clinical series and a review of the literature.

Science.gov (United States)

Damásio, Joana; Edwards, Mark J; Alonso-Canovas, Araceli; Schwingenschuh, Petra; Kägi, Georg; Bhatia, Kailash P

2011-03-01

The co-occurrence of tics and dystonia as an idiopathic condition has only rarely been reported. We report a series of patients with tics and persistent dystonia, with the aim of determining the prevalence and clinical characteristics of this syndrome. Analysis of clinical database of patients with tic disorders. From our database of 224 patients with tics, 20 had co-occurrence of tics and dystonia as a primary disorder. Six patients had Tourette's syndrome, and 2 had idiopathic chronic motor/phonic tics. Twelve of the 20 had adult onset of tics (9 with motor/phonic tics and 3 with motor tics). Dystonia was focal in 12 patients (cervical most common) and segmental in 8. A sensory geste was present in 8. Mean age of tic onset and dystonia was 28.3 ± 19.7 and 40.5 ± 15.3 years, respectively. Tics preceded dystonia in 12, dystonia preceded tics in 4, and 1 patient had simultaneous onset of tics and dystonia. In 3 patients, symptoms' sequence could not be determined. Only 8 patients required treatment for their tics. Botulinum toxin was the mainstay of dystonia treatment (16 patients), whereas 6 received trihexyphenidyl. Six patients each had depression and obsessive compulsive symptoms, and 5 had attention-deficit and hyperactivity disorder. We have further characterized the syndrome of a primary condition of tics associated with persistent focal/segmental dystonia. Apart from the presence of dystonia, our data suggest that these patients are differentiated from pure tic disorders by a later age of onset, lesser severity of tics, and lower frequency of associated features. Copyright © 2010 Movement Disorder Society.

Tiagabine treatment in kainic acid induced cerebellar lesion of dystonia rat model

Science.gov (United States)

Wang, Tsui-chin; Ngampramuan, Sukonthar; Kotchabhakdi, Naiphinich

2016-01-01

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 in the rats on post-surgery treatment. Involuntary dystonic spasm was observed with repetitive rigidity, and twisting movements in the rats were also confirmed by a high score on the dystonic scoring and a high amplitude on the EMG data. The rats with tiagabine treatment were scored based on motor amelioration assessed via beam walking. The result of this study suggests and confirms that low dose of kainic acid microinjection is sufficient to induce dystonia from the cerebellar vermis. In addition, from the results of the EMG recording and the behavioral assessment through beam walking, tiagabine is demonstrated as being effective in reducing dystonic spasm and may be a possible alternative therapeutic drug in the treatment of dystonia. PMID:28337103

Cerebral activation during motor imagery in complex regional pain syndrome type 1 with dystonia

NARCIS (Netherlands)

Gieteling, Esther W.; van Rijn, Monique A.; de Jong, Bauke M.; Hoogduin, Johannes M.; Renken, Remco; van Hilten, Jacobus J.; Leenders, Klaus L.

The pathogenesis of dystonia in Complex Regional Pain Syndrome type 1 (CRPS-1) is unclear. In primary dystonia, functional magnetic resonance imaging (fMRI) has revealed changes in cerebral networks during execution of movement. The aim of this study was to determine cerebral network function in

Immune state of patients of vegeto-vascular dystonia, clean-up workers of the Chernobyl accident

International Nuclear Information System (INIS)

Sakhno, T.A.; Davydova, T.I.; Bazika, D.A.; Chumak, A.A.

1995-01-01

Immune state of 272 clean-up workers, participants of the Chernobyl Power Plant accident, suffering from vegeto-vascular dystonia is studied. Comparison groups were formed by 20 healthy clean-up workers, 25 vegeto-vascular dystonia patients non-participating in the clean-up works, and 60 healthy donors. Immune state disturbances in the vegeto-vascular dystonia patients have unidirectional changing but among the clear-up workers their expression was much significant coinciding with the more severe clinical courses of disease comparing to the patients non-participating in the clean-up works

Modulation of the Muscle Activity During Sleep in Cervical Dystonia.

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Antelmi, Elena; Ferri, Raffaele; Provini, Federica; Scaglione, Cesa M L; Mignani, Francesco; Rundo, Francesco; Vandi, Stefano; Fabbri, Margherita; Pizza, Fabio; Plazzi, Giuseppe; Martinelli, Paolo; Liguori, Rocco

2017-07-01

Impaired sleep has been reported as an important nonmotor feature in dystonia, but so far, self-reported complaints have never been compared with nocturnal video-polysomnographic (PSG) recording, which is the gold standard to assess sleep-related disorders. Twenty patients with idiopathic isolated cervical dystonia and 22 healthy controls (HC) underwent extensive clinical investigations, neurological examination, and questionnaire screening for excessive daytime sleepiness and sleep-related disorders. A full-night video PSG was performed in both patients and HC. An ad hoc montage, adding electromyographic leads over the muscle affected with dystonia, was used. When compared to controls, patients showed significantly increased pathological values on the scale assessing self-reported complaints of impaired nocturnal sleep. Higher scores of impaired nocturnal sleep did not correlate with any clinical descriptors but for a weak correlation with higher scores on the scale for depression. On video-PSG, patients had significantly affected sleep architecture (with decreased sleep efficiency and increased sleep latency). Activity over cervical muscles disappears during all the sleep stages, reaching significantly decreased values when compared to controls both in nonrapid eye movements and rapid eye movements sleep. Patients with cervical dystonia reported poor sleep quality and showed impaired sleep architecture. These features however cannot be related to the persistence of muscle activity over the cervical muscles, which disappears in all the sleep stages, reaching significantly decreased values when compared to HC. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

Atypical presentation of dopa-responsive dystonia in Taiwan.

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Weng, Yi Ching; Wang, Chun Chieh; Wu, Yih Ru

2018-02-01

The typical clinical presentation of dopa-responsive dystonia, which is also called Segawa disease, is a young age of onset, with predominance in females, diurnal fluctuation of lower limb dystonia, and fair response to low-dose levodopa. This disease has both autosomal dominant and autosomal recessive inheritance. Autosomal dominant Segawa disease is caused by GCH1 mutation on chromosome 14q22.1-q22.2. Here, we report the case of a male patient with genetically confirmed Segawa disease and atypical presentations including no diurnal symptom fluctuation and insufficient response to levodopa. The patient's father who had the same mutation presented parkinsonism in old age. We also review the literature to address the broad clinical heterogeneity of Segawa disease and the influence of onset age on clinical presentation.

[Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia].

Science.gov (United States)

Garcia-Ruiz, P J; Sanz-Cartagena, P; Martinez-Castrillo, J C; Ares-Pensado, B; Aviles-Olmos, I; Blazquez-Estrada, M; Fanjul-Arbos, S; Garcia-Caldentey, J; Gazulla, J; Gutierrez-Garcia, J; Huete-Anton, B; Lucas-Rodenas, C; Luquin, M R; Martinez-Torres, I; Medialdea-Natera, P; Mendoza-Rodriguez, A; Mir-Rivera, P; Posada, I J; Ruiz-Martinez, J; Sanchez-Alonso, P; Trejo-Gabriel Y Galan, J M; Vela, L; Pena-Segura, J L

2018-03-01

Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. To analyze and summarize different questions about the use of BTA in our clinical practice. A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia. A literature search at PubMed, mainly for English language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of neuropharmacology, such as mechanism of action, bioequivalence of the different preparations, immunogenicity, etc. were included. Regarding dystonia, the document included questions about methods of evaluation, cervical dystonia, blepharospasm, etc. This review does not pretend to be a guide, but rather a tool for continuous training of residents and specialists in neurology, about different specific areas of the management of BTA.

Cannabis in the Treatment of Dystonia, Dyskinesias, and Tics.

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Koppel, Barbara S

2015-10-01

Cannabis has been used for many medicinal purposes, including management of spasms, dystonia, and dyskinesias, with variable success. Its use for tetanus was described in the second century BCE, but the literature continues to include more case reports and surveys of its beneficial effects in managing symptoms of hyperkinetic movement disorders than randomized controlled trials, making evidence-based recommendations difficult. This paper reviews clinical research using various formulations of cannabis (botanical products, oral preparations containing ∆(9)-tetrahydrocannabinol and/or cannabidiol) and currently available preparations in the USA (nabilone and dronabinol). This has been expanded from a recent systematic review of cannabis use in several neurologic conditions to include case reports and case series and results of anonymous surveys of patients using cannabis outside of medical settings, with the original evidence classifications marked for those papers that followed research protocols. Despite overlap in some patients, dyskinesias will be treated separately from dystonia and chorea; benefit was not established beyond individual patients for these conditions. Tics, usually due to Tourettes, did respond to cannabis preparations. Side effects reported in the trials will be reviewed but those due to recreational use, including the dystonia that can be secondary to synthetic marijuana preparations, are outside the scope of this paper.

Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation

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Ritesh Ramdhani

2016-03-01

Full Text Available Background: Myoclonus–dystonia is a condition that manifests predominantly as myoclonic jerks with focal dystonia. It is genetically heterogeneous with most mutations in the epsilon sarcoglycan gene (SGCE. In medically refractory cases, deep brain stimulation (DBS has been shown to provide marked sustainable clinical improvement, especially in SGCE-positive patients. We present two patients with myoclonus–dystonia (one SGCE positive and the other SGCE negative who have the isolated myoclonus phenotype and had DBS leads implanted in the bilateral globus pallidus internus (GPi. Methods: We review their longitudinal Unified Myoclonus Rating Scale scores along with their DBS programming parameters and compare them with published cases in the literature. Results: Both patients demonstrated complete amelioration of all aspects of myoclonus within 6–12 months after surgery. The patient with the SGCE-negative mutation responded just as well as the patient who was SGCE positive. High-frequency stimulation (130 Hz with amplitudes greater than 2.5 V provided therapeutic benefit. Discussion: This case series demonstrates that high frequency GPi-DBS is effective in treating isolated myoclonus in myoclonus–dystonia, regardless of the presence of SGCE mutation.

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

NARCIS (Netherlands)

Lohmann, Katja; Wilcox, Robert A.; Winkler, Susen; Ramirez, Alfredo; Rakovic, Aleksandar; Park, Jin-Sung; Arns, Björn; Lohnau, Thora; Groen, Justus; Kasten, Meike; Brüggemann, Norbert; Hagenah, Johann; Schmidt, Alexander; Kaiser, Frank J.; Kumar, Kishore R.; Zschiedrich, Katja; Alvarez-Fischer, Daniel; Altenmüller, Eckart; Ferbert, Andreas; Lang, Anthony E.; Münchau, Alexander; Kostic, Vladimir; Simonyan, Kristina; Agzarian, Marc; Ozelius, Laurie J.; Langeveld, Antonius P. M.; Sue, Carolyn M.; Tijssen, Marina A. J.; Klein, Christine

2013-01-01

OBJECTIVE: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. METHODS: Genome-wide linkage analysis was

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

NARCIS (Netherlands)

Lohmann, Katja; Wilcox, Robert A.; Winkler, Susen; Ramirez, Alfredo; Rakovic, Aleksandar; Park, Jin-Sung; Arns, Bjoern; Lohnau, Thora; Kasten, Meike; Brueggemann, Norbert; Hagenah, Johann; Schmidt, Alexander; Kaiser, Frank J.; Kumar, Kishore R.; Zschiedrich, Katja; Alvarez-Fischer, Daniel; Altenmueller, Eckart; Ferbert, Andreas; Lang, Anthony E.; Muenchau, Alexander; Kostic, Vladimir; Simonyan, Kristina; Agzarian, Marc; Ozelius, Laurie J.; Langeveld, Antonius P. M.; Sue, Carolyn M.; Tijssen, Marina A. J.; Klein, Christine; Groen, Justus

Objective A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. Methods Genome-wide linkage analysis was carried

Contribution of TMS and rTMS in the Understanding of the Pathophysiology and in the Treatment of Dystonia.

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Lozeron, Pierre; Poujois, Aurélia; Richard, Alexandra; Masmoudi, Sana; Meppiel, Elodie; Woimant, France; Kubis, Nathalie

2016-01-01

Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures, and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug's side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop. However, basal ganglia lesions do not consistently produce dystonia and lesions outside basal ganglia can lead to dystonia; mild sensory abnormalities have been reported in the dystonic limb and imaging studies have shown involvement of multiple other brain regions including the cerebellum and the cerebral motor, premotor and sensorimotor cortices. Transcranial magnetic stimulation (TMS) is a non-invasive technique of brain stimulation with a magnetic field applied over the cortex allowing investigation of cortical excitability. Hyperexcitability of contralateral motor cortex has been suggested to be the trigger of focal dystonia. High or low frequency repetitive TMS (rTMS) can induce excitatory or inhibitory lasting effects beyond the time of stimulation and protocols have been developed having either a positive or a negative effect on cortical excitability and associated with prevention of cell death, γ-aminobutyric acid (GABA) interneurons mediated inhibition and brain-derived neurotrophic factor modulation. rTMS studies as a therapeutic strategy of dystonia have been conducted to modulate the cerebral areas involved in the disease. Especially, when applied on the contralateral (pre)-motor cortex or supplementary motor area of brains of small cohorts of dystonic patients, rTMS has shown a beneficial transient clinical effect in association with restrained motor cortex excitability. TMS is currently a valuable tool to improve

Contribution of TMS and rTMS in the understanding of the pathophysiology and in the treatment of dystonia.

Directory of Open Access Journals (Sweden)

Pierre Lozeron

2016-11-01

Full Text Available Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug’s side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop. However, basal ganglia lesions do not consistently produce dystonia and lesions outside basal ganglia can lead to dystonia; mild sensory abnormalities have been reported in the dystonic limb and imaging studies have shown involvement of multiple other brain regions including the cerebellum and the cerebral motor, premotor and sensorimotor cortices. Transcranial magnetic stimulation (TMS is a non-invasive technique of brain stimulation with a magnetic field applied over the cortex allowing investigation of cortical excitability. Hyperexcitability of contralateral motor cortex has been suggested to be the trigger of focal dystonia. High or low frequency repetitive TMS (rTMS can induce excitatory or inhibitory lasting effects beyond the time of stimulation and protocols have been developed having either a positive or a negative effect on cortical excitability and associated with prevention of cell death, γ-aminobutyric acid (GABA interneurons mediated inhibition and brain-derived neurotrophic factor (BDNF modulation. rTMS studies as a therapeutic strategy of dystonia have been conducted to modulate the cerebral areas involved in the disease. Especially, when applied on the contralateral (pre-motor cortex or supplementary motor area of brains of small cohorts of dystonic patients, rTMS has shown a beneficial transient clinical effect in association with restrained motor cortex excitability. TMS is currently a

[Effects of an hydrotherapy program in the treatment of cervical dystonia. A pilot study].

Science.gov (United States)

Useros-Olmo, Ana Isabel; Collado-Vázquez, Susana

2010-12-01

Cervical dystonia may also cause limitation in articulation mobility and alteration of the balance, both accompanied with pain. AIM. To evaluate if hydrotherapy produces decrease of pain, increase in mobility and balance in patients diagnosed with cervical dystonia. A pre-post treatment pilot study was carried out without group control, with a sample of 16 patients (13 female and 3 male) diagnosed with cervical dystonia. The patients received an hydrotherapy treatment consisted of three individual sessions and three grupal sessions of aquatic exercises. In the pre-treatment phase the disability, severity and pain were evaluated by means of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS); the balance was evaluated by means of the Get up and Go and Tinetti tests. In addition, the range of active mobility of the neck was measured with tape. The test were measured pre and post-treatment. The Student t showed a significant difference (p hydrotherapy can be related a positive influence in cervical dystonia, producing neck mobility and balance improvements and pain decrease. Future studies are necessary.

Case report: Physical therapy management of axial dystonia.

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Voos, Mariana Callil; Oliveira, Tatiana de Paula; Piemonte, Maria Elisa Pimentel; Barbosa, Egberto Reis

2014-01-01

Few studies have described physical therapy approaches to provide functional independence and reduce pain in individuals with dystonia. This report describes the physical therapy treatment of a 46-year-old woman diagnosed with idiopathic segmental axial dystonia. For two years, the patient was treated with kinesiotherapy (active and resisted movements and stretching of neck and trunk muscles), abdominal taping (kinesiotaping techniques), functional training, and sensory tricks. She was assessed with parts I, II and III of Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-I, TWSTRS-II and TWSTRS-III), Berg Balance Scale (BBS), Six-Minute Walk Test (6-MWT), and the motor domain of Functional Independence Measure (FIM-motor) before and after the two-year treatment and after the one year follow-up. Postural control and symmetry improved (TWSTRS-I: from 30 to 18), functional independence increased (TWSTRS-II: from 27 to 15; BBS: from 36 to 46; 6-MWT: from 0 to 480 meters (m); FIM-motor: from 59 to 81), and the pain diminished (TWSTRS-III: from 12 to 5). The functional improvement was retained after one year (TWSTRS-I: 14/35; TWRTRS-II: 12/30; TWRTRS-III: 5/20; BBS: 48/56; 6-MWT: 450 m; FIM-motor: 81/91). This program showed efficacy on providing a better control of the dystonic muscles and thus the doses of botulinum toxin needed to treat them could be reduced. Outcomes support the therapeutic strategies used to deal with this type of dystonia.

Limb Amputations in Fixed Dystonia: A Form of Body Integrity Identity Disorder?

OpenAIRE

Edwards, Mark J; Alonso-Canovas, Araceli; Schrag, Arnette; Bloem, Bastiaan R; Thompson, Philip D; Bhatia, Kailash

2011-01-01

Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with healthy limbs and patients with chronic regional pain syndrome who have sought amputation. Our cases...

White matter abnormalities in gene-positive myoclonus-dystonia

NARCIS (Netherlands)

van der Meer, Johan N.; Beukers, Richard J.; van der Salm, S. M. A.; Caan, Matthan W. A.; Tijssen, Marina A. J.; Nederveen, Aart J.

2012-01-01

Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic movements of the upper body. Functional imaging and structural gray matter imaging studies in M-D suggest defective sensorimotor integration and an association between

Interventional studies in childhood dystonia do not address the concerns of children and their carers.

Science.gov (United States)

Lumsden, Daniel E; Gimeno, Hortensia; Tustin, Kylee; Kaminska, Margaret; Lin, Jean-Pierre

2015-05-01

This study aimed to determine the main concerns/priorities of the parents and carers of children with dystonia referred to our service and whether medical interventional studies addressed these concerns. Records of children assessed by our service from June 2005-December 2012 were reviewed and expressed parental/carer concerns at initial assessment categorized using the International Classification of Functioning (ICF) Framework. Medline, CINAHL and Embase databases were searched for outcome measures of medical and surgical interventional studies in childhood dystonia. Data was collected from 273 children and young people with dystonia. The most commonly expressed concerns were: pain (104/273, 38.1%); difficulties in delivering activities of daily-living (66/273, 24.2%), difficulties with hand-use (59/273, 21.6%) and seating (41/273, 15.0%). Literature review identified 70 interventional studies, 46 neurosurgical and 24 pharmacological. The majority of neurosurgical studies (34/46) used impairment scales to measure change, with pharmacological studies typically reporting more subjective changes in motor symptoms. Only a minority of studies used assessments or scales capable of objectively addressing the concerns reported by our cohort. Existing interventional studies in childhood dystonia poorly address the main concerns of children with dystonia and their carers, limiting the conclusions which may be drawn as to true impact of these interventions in childhood. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Altered striatal and pallidal connectivity in cervical dystonia

NARCIS (Netherlands)

Delnooz, C.C.S.; Pasman, J.W; Beckmann, C.F.; Warrenburg, B.P.C. van de

2015-01-01

Cervical dystonia is a neurological movement disorder characterized by involuntary, abnormal movements of the head and neck. Injecting the overactive muscles with botulinum toxin is the gold standard treatment, supported by good evidence (Delnooz and van de Warrenburg in Ther Adv Neurol Disord

Alcohol responsiveness in laryngeal dystonia: A survey study

Science.gov (United States)

Kirke, Diana N.; Frucht, Steven J.; Simonyan, Kristina

2015-01-01

Laryngeal dystonia (LD) is a task-specific focal dystonia of unknown pathophysiology affecting speech production. We examined the demographics of anecdotally reported alcohol use and its effects on LD symptoms using an online survey based on Research Electronic Data Capture (REDCap™) and National Spasmodic Dysphonia Association’s patient registry. From 641 participants, 531 were selected for data analysis, and 110 were excluded because of unconfirmed diagnosis. A total of 406 patients (76.5%) had LD and 125 (23.5%) had LD and voice tremor (LD/VT). The consumption of alcohol was reported by 374 LD (92.1%) and 109 LD/VT (87.2%) patients. Improvement of voice symptoms after alcohol ingestion was noted by 227 LD (55.9% of all patients) and 73 LD/VT (58.4%), which paralleled the improvement observed by patient’s family and/or friends in 214 LD (57.2%) and 69 LD/VT (63.3%) patients. The benefits lasted 1–3 hours in both groups with the maximum effect after 2 drinks in LD patients (p = 0.002), whereas LD/VT symptoms improved independent of the consumed amount (p = 0.48). Our data suggest that isolated dystonic symptoms, such as in LD, are responsive to alcohol intake and this responsiveness is not attributed to the presence of VT, which is known to have significant benefits from alcohol ingestion. Alcohol may modulate the pathophysiological mechanisms underlying abnormal neurotransmission of γ-aminobutyric acid (GABA) in dystonia and as such provide new avenues for novel therapeutic options in these patients. PMID:25929664

Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

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MARIE SUELY K.NAGAHASHI

1999-01-01

Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

Evaluation of the efficacy of deep brain stimulation in the surgical treatment of cervical dystonia.

Science.gov (United States)

Calheiros-Trigo, Francisca; Linhares, Paulo

2014-01-01

Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a promising therapeutic option for patients with medically refractory dystonia. We present the results after 1 year of DBS of the GPi in 4 patients with cervical dystonia. Four patients with medically refractory cervical dystonia who underwent stereotactic pallidal DBS surgery between June 2010 and November 2011 were included in this retrospective study. Preoperative and postoperative evaluations at 3, 6 and 12 months after surgery were performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). The 4 patients experienced a sustained improvement, with a mean TWSTRS reduction of 74.25%, at 12 months follow-up. Disability improved by 80.5% (mean) at 1 year follow-up. No stimulation-related side effects were reported. Pallidal DBS is a valid and effective second-line treatment for patients with cervical focal dystonia. Our results support its use in patients with an insufficient response to medical treatment. Copyright © 2013 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-dystonia

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Umeh, Chizoba C.; Kalakoti, Piyush; Greenberg, Michael K; Notari, Silvio; Cohen, Yvonne; Gambetti, Pierluigi; Oblak, Adrian L.; Ghetti, Bernardino; Mari, Zoltan

2015-01-01

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 changes, and PrP deposition in the striatum. PrP immunohistochemistry revealed widespread severe PrP deposition in the thalamus and cerebellar cortex. Based on the neuropathological and molecular-genetic analysis, the rapidly progressing parkinsonism-dystonia correlated with nigrostriatal, thalamic, and cerebellar pathology. PMID:27617269

Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.

LENUS (Irish Health Repository)

Bradley, D

2012-02-01

Familial adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance. Most adult-onset primary torsion dystonia patients are sporadic cases. Disordered sensory processing is found in adult-onset primary torsion dystonia patients; if also present in their unaffected relatives this abnormality may indicate non-manifesting gene carriage. Temporal discrimination thresholds (TDTs) are abnormal in adult-onset primary torsion dystonia, but their utility as a possible endophenotype has not been examined. We examined 35 adult-onset primary torsion dystonia patients (17 familial, 18 sporadic), 42 unaffected first-degree relatives of both familial and sporadic adult-onset primary torsion dystonia patients, 32 unaffected second-degree relatives of familial adult-onset primary torsion dystonia (AOPTD) patients and 43 control subjects. TDT was measured using visual and tactile stimuli. In 33 unaffected relatives, voxel-based morphometry was used to compare putaminal volumes between relatives with abnormal and normal TDTs. The mean TDT in 26 control subjects under 50 years of age was 22.85 ms (SD 8.00; 95% CI: 19.62-26.09 ms). The mean TDT in 17 control subjects over 50 years was 30.87 ms (SD 5.48; 95% CI: 28.05-33.69 ms). The upper limit of normal, defined as control mean + 2.5 SD, was 42.86 ms in the under 50 years group and 44.58 ms in the over 50 years group. Thirty out of thirty-five (86%) AOPTD patients had abnormal TDTs with similar frequencies of abnormalities in sporadic and familial patients. Twenty-two out of forty-two (52%) unaffected first-degree relatives had abnormal TDTs with similar frequencies in relatives of sporadic and familial AOPTD patients. Abnormal TDTs were found in 16\\/32 (50%) of second-degree relatives. Voxel-based morphometry analysis comparing 13 unaffected relatives with abnormal TDTs and 20 with normal TDTs demonstrated a bilateral increase in putaminal grey matter in unaffected relatives with abnormal

Persistent Left Superior Vena Cava, The View of a Rare Case

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H.Volkan Kara

2013-10-01

Full Text Available The glenohumeral joint is the most commonly dislocated joint in the human body. Anterior dislocatin is the most common type and posterior dislocations account for <1% of shoulder dislocations.  A 68-yearold woman was brought to the emergency department by ambulance  with shoulder pain following a fall from stairs. On local physical examination, there was severe pain on the left proximal humerus. The left arm was in internal rotation in the adducted position. Active and passive movements of the left shoulder were painful and limited. The neurovascular examination of the left upper extremity revealed no deficit. Radiographs of her left shoulder were performed and no significant pathology was identified in the left shoulder anteroposterior (AP X-ray (Figure 1. Axillary radiography could not be performed because of painful arm movements. Therefore, CT was performed to clarify any existing shoulder pathology (Figure 2. Closed reduction under conscious sedation was performed with longitudinal and lateral traction on the arm to protect the humeral head. Control CT was performed and this revealed that reduction had improved the shoulder (Figure 3. She was then treated with an arm sling and discharged with an outpatient orthopaedic control visit.

Phenotypic features of myoclonus-dystonia in three kindreds

NARCIS (Netherlands)

Doheny, D. O.; Brin, M. F.; Morrison, C. E.; Smith, C. J.; Walker, R. H.; Abbasi, S.; Müller, B.; Garrels, J.; Liu, L.; de Carvalho Aguiar, P.; Schilling, K.; Kramer, P.; de Leon, D.; Raymond, D.; Saunders-Pullman, R.; Klein, C.; Bressman, S. B.; Schmand, B.; Tijssen, M. A. J.; Ozelius, L. J.; Silverman, J. M.

2002-01-01

Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the E-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2) gene (one

Role of ARX Gene in Infantile Spasms and Dystonia

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J Gordon Millichap

2007-08-01

Full Text Available The role of ARX gene in a syndrome of infantile spasms with generalized dystonia was investigated in 6 boys from 4 families at the University of Florence, Italy, and other centers in Italy, Japan, and USA.

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study

NARCIS (Netherlands)

Zutt, Rodi; Dijk, Joke M.; Peall, Kathryn J.; Speelman, Hans; Dreissen, Yasmine E. M.; Contarino, Maria Fiorella; Tijssen, Marina A. J.

2016-01-01

Myoclonus-dystonia (M-D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic

Structural white matter abnormalities in patients with idiopathic dystonia

NARCIS (Netherlands)

Bonilha, Leonardo; de Vries, Paulien M.; Vincent, Diana J.; Rorden, Chris; Morgan, Paul S.; Hurd, Mark W.; Besenski, Nada; Bergmann, Kenneth J.; Hinson, Vanessa K.

2007-01-01

We investigated whether structural white matter abnormalities, in the form of disruption of axonal coherence and integrity as measured with diffusion tensor imaging (DTI), constitute an underlying pathological mechanism of idiopathic dystonia (ID), independent of genotype status. We studied seven

Functional MRI study of response inhibition in myoclonus dystonia

NARCIS (Netherlands)

van der Salm, S.M.A.; van der Meer, J.N.; Nederveen, A.J.; Veltman, D.J.; van Rootselaar, A.F.; Tijssen, M.A.J.

2013-01-01

Background: Myoclonus-dystonia (MD) is a movement disorder characterized by myoclonic jerks, dystonic postures and psychiatric co-morbidity. A mutation in the DYT11 gene underlies half of MD cases. We hypothesize that MD results from a dysfunctional basal ganglia network causing insufficient

Functional MRI study of response inhibition in myoclonus dystonia

NARCIS (Netherlands)

van der Salm, Sandra M. A.; van der Meer, Johan N.; Nederveen, Aart J.; Veltman, Dick J.; van Rootselaar, Anne-Fleur; Tijssen, Marina A. J.

Background: Myoclonus-dystonia (MD) is a movement disorder characterized by myoclonic jerks, dystonic postures and psychiatric co-morbidity. A mutation in the DYT11 gene underlies half of MD cases. We hypothesize that MD results from a dysfunctional basal ganglia network causing insufficient

Disrupted thalamic prefrontal pathways in patients with idiopathic dystonia

NARCIS (Netherlands)

Bonilha, Leonardo; de Vries, Paulien M.; Hurd, Mark W.; Rorden, Chris; Morgan, Paul S.; Besenski, Nada; Bergmann, Kenneth J.; Hinson, Vanessa K.

There are quantifiable abnormalities in water diffusion properties of the white matter in thalamic and prefrontal areas in patients with idiopathic dystonia (ID). However, it is unclear which pathways are disrupted in these patients. Using probabilistic tractography of high resolution DTI, we

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models

OpenAIRE

Yokoi, Fumiaki; Dang, Mai T.; Yang, Guang; Li, JinDong; Doroodchi, Atbin; Zhou, Tong; Li, Yuqing

2011-01-01

Myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonia. DYT11 M-D is caused by mutations in SGCE which codes for ε-sarcoglycan. SGCE is maternally imprinted and paternally expressed. Abnormal nuclear envelope has been reported in mouse models of DYT1 generalized torsion dystonia. However, it is not known whether similar alterations occur in DYT11 M-D. We developed a mouse model of DYT11 M-D using paternally-inherited Sgce heterozygous knockout (Sgce KO)...

Neurophysiological evidence for cerebellar dysfunction in primary focal dystonia.

NARCIS (Netherlands)

Teo, J.T.; Warrenburg, B.P.C. van de; Schneider, S.A.; Rothwell, J.C.; Bhatia, K.P.

2009-01-01

Recent studies have suggested that there may be functional and structural changes in the cerebellum of patients with adult onset primary focal dystonia. The aim of this study was to establish whether there is any neurophysiological indicator of abnormal cerebellar function, using the classic

Electromyography in cervical dystonia: changes after botulinum and trihexyphenidyl

NARCIS (Netherlands)

Brans, J. W.; Aramideh, M.; Koelman, J. H.; Lindeboom, R.; Speelman, J. D.; Ongerboer de Visser, B. W.

1998-01-01

BACKGROUND: The value of physical examination in detecting involved neck muscles in cervical dystonia (CD) is uncertain and little is known about changes in electromyographic (EMG) features after botulinum toxin type A (BTA) treatment. METHODS: In a double-blind, randomized study we recorded the EMG

Functional MRI study of response inhibition in myoclonus dystonia

NARCIS (Netherlands)

van der Salm, Sandra M. A.; van der Meer, Johan N.; Nederveen, Aart J.; Veltman, Dick J.; van Rootselaar, Anne-Fleur; Tijssen, Marina A. J.

2013-01-01

Myoclonus-dystonia (MD) is a movement disorder characterized by myoclonic jerks, dystonic postures and psychiatric co-morbidity. A mutation in the DYT11 gene underlies half of MD cases. We hypothesize that MD results from a dysfunctional basal ganglia network causing insufficient inhibitory motor

Evolution of robotic arms.

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Moran, Michael E

2007-01-01

The foundation of surgical robotics is in the development of the robotic arm. This is a thorough review of the literature on the nature and development of this device with emphasis on surgical applications. We have reviewed the published literature and classified robotic arms by their application: show, industrial application, medical application, etc. There is a definite trend in the manufacture of robotic arms toward more dextrous devices, more degrees-of-freedom, and capabilities beyond the human arm. da Vinci designed the first sophisticated robotic arm in 1495 with four degrees-of-freedom and an analog on-board controller supplying power and programmability. von Kemplen's chess-playing automaton left arm was quite sophisticated. Unimate introduced the first industrial robotic arm in 1961, it has subsequently evolved into the PUMA arm. In 1963 the Rancho arm was designed; Minsky's Tentacle arm appeared in 1968, Scheinman's Stanford arm in 1969, and MIT's Silver arm in 1974. Aird became the first cyborg human with a robotic arm in 1993. In 2000 Miguel Nicolalis redefined possible man-machine capacity in his work on cerebral implantation in owl-monkeys directly interfacing with robotic arms both locally and at a distance. The robotic arm is the end-effector of robotic systems and currently is the hallmark feature of the da Vinci Surgical System making its entrance into surgical application. But, despite the potential advantages of this computer-controlled master-slave system, robotic arms have definite limitations. Ongoing work in robotics has many potential solutions to the drawbacks of current robotic surgical systems.

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.

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Zuchra Zakirova

2018-01-01

Full Text Available Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein domain containing, apoptosis associated protein 1], a ubiquitously expressed transcription factor with DNA binding and protein-interaction domains, cause dystonia, DYT6. There is a unique, neuronal 50-kDa Thap1-like immunoreactive species, and Thap1 levels are auto-regulated on the mRNA level. However, THAP1 downstream targets in neurons, and the mechanism via which it causes dystonia are largely unknown. We used RNA-Seq to assay the in vivo effect of a heterozygote Thap1 C54Y or ΔExon2 allele on the gene transcription signatures in neonatal mouse striatum and cerebellum. Enriched pathways and gene ontology terms include eIF2α Signaling, Mitochondrial Dysfunction, Neuron Projection Development, Axonal Guidance Signaling, and Synaptic LongTerm Depression, which are dysregulated in a genotype and tissue-dependent manner. Electrophysiological and neurite outgrowth assays were consistent with those enrichments, and the plasticity defects were partially corrected by salubrinal. Notably, several of these pathways were recently implicated in other forms of inherited dystonia, including DYT1. We conclude that dysfunction of these pathways may represent a point of convergence in the pathophysiology of several forms of inherited dystonia.

Stuttering in Parkinson's disease after deep brain stimulation: A note on dystonia and low-frequency stimulation.

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Mendonça, Marcelo D; Barbosa, Raquel; Seromenho-Santos, Alexandra; Reizinho, Carla; Bugalho, Paulo

2018-04-01

Stuttering, a speech fluency disorder, is a rare complication of Deep Brain Stimulation (DBS) in Parkinson's Disease (PD). We report a 61 years-old patient with PD, afflicted by severe On and Off dystonia, treated with Subthalamic Nucleus DBS that developed post-DBS stuttering while on 130 Hz stimulation. Stuttering reduction was noted when frequency was changed to 80 Hz, but the previously observed dystonia improvement was lost. There are no reports in literature on patients developing stuttering with low-frequency stimulation. We question if low-frequency stimulation could have a role for managing PD's post-DBS stuttering, and notice that stuttering improvement was associated with dystonia worsening suggesting that they are distinct phenomena. Copyright © 2018 Elsevier Ltd. All rights reserved.

Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP).

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Lee, L V; Munoz, E L; Tan, K T; Reyes, M T

2001-12-01

Sex linked dystonia parkinsonism (XDP), also referred to as "lubag" in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the 3rd or 4th decade, spreading to generalisation within two to five years. The dystonia coexists or is replaced by parkinsonism usually beyond the 10th year of illness. No treatment has been found to be effective. Neuroimaging shows caudate and putamenal atrophy in patients reaching the parkinsonian stage. Neuropathology reveals pronounced atrophy of the caudate and putamen, mostly in the cases with long standing illness. The sex linked pattern of inheritance has been established. Genetic studies have located the affected gene (DYT3) to Xq13.1, with one group mapping the XDP gene to a < 350 kb locus in the DXS 7117-DXS 559 region.

[Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar São João Neurogenetics Group].

Science.gov (United States)

Monteiro, Ana; Massano, João; Leão, Miguel; Garrett, Carolina

2017-04-28

The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of genetic testing. It must follow observation by specialized clinicians highly differentiated in this area and be supported by a rational plan of investigation. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of the primary dystonias, based on international consensus documents and recent published scientific evidence. This manuscript adopts the new classification system for genetic movement disorders, allowing for its systematic and standardized use in clinical practice.

Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome

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Idil Hanci

2018-05-01

Full Text Available Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing “stimulation off” and “stimulation on” despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS. This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.

One arm exercise induces significant interarm diastolic blood pressure difference.

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Hong, Dezhi; Wang, Jiwei; Su, Hai; Xu, Jingsong; Liu, Yanna; Peng, Qiang; Wang, Lijuan

2011-06-01

This study is designed to investigate the inducing effect of one arm exercise on interarm difference (IAD) in the blood pressure (BP). Fifty healthy young participants were included in the study. Three-minute exercises of the right arm elbow flexion and extension were performed. The bilateral brachial BP was simultaneously measured with two automatic BP measurement devices before (basic) and immediately 0, 5, 10, 15, 20, and 30 min after exercise. The absolute difference in the systolic BP (SBP) and diastolic BP (DBP) between the left and right BP of at least 10 mmHg was recognized as sIAD and dIAD. The baseline data of the SBP and DBP in left and right arms revealed no significant difference (SBP: 110 ± 10 vs. 111 ± 11 mmHg; DBP: 66 ± 8 vs. 66 ± 9 mmHg, both not significant). The prevalence of dIAD was 2% at the baseline. However, this prevalence increased to 80% at 0 min, as right arm exercise induced the right DBP decrease and left DBP increase, and then the prevalence decreased gradually within a 30-min recovery period. The prevalence of sIAD was zero at the baseline and the maximal prevalence was 8% during the 20-min postexercise period. One arm exercise can lead to a significant IAD in DBP. Any arm exercise should be avoided before BP measurement.

Evaluation of AZD1446 as a Therapeutic in DYT1 Dystonia

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Chelsea N. Zimmerman

2017-06-01

Full Text Available DYT1 dystonia is an early-onset, hyperkinetic movement disorder caused by a deletion in the gene TOR1A, which encodes the protein torsinA. Several lines of evidence show that in animal models of DTY1 dystonia, there is impaired basal dopamine (DA release and enhanced acetylcholine tone. Clinically, anticholinergic drugs are the most effective pharmacological treatment for DYT1 dystonia, but the currently used agents are non-selective muscarinic antagonists and associated with side effects. We used a DYT1 ∆GAG knock-in mouse model (DYT1 KI to investigate whether nicotine and/or a non-desensitizing nicotinic agonist, AZD1446, would increase DA output in DYT1 dystonia. Using in vivo microdialysis, we found that DYT1 KI mice showed significantly increased DA output and greater sensitivity to nicotine compared to wild type (WT littermate controls. In contrast, neither systemic injection (0.25–0.75 mg/kg or intrastriatal infusion (30 μM–1 mM of AZD1446 had a significant effect on DA efflux in WT or DYT1 KI mice. In vitro, we found that AZD1446 had no effect on the membrane properties of striatal spiny projection neurons (SPNs and did not alter the spontaneous firing of ChI interneurons in either WT or DYT1 KI mice. We did observe that the firing frequency of dopaminergic neurons was significantly increased by AZD1446 (10 μM, an effect blocked by dihydro-beta-erythroidine (DHβE 3 μM, but the effect was similar in WT and DYT1 KI mice. Our results support the view that DYT1 models are associated with abnormal striatal cholinergic transmission, and that the DYT1 KI animals have enhanced sensitivity to nicotine. We found little effect of AZD1446 in this model, suggesting that other approaches to nicotinic modulation should be explored.

Dopamine Dysfunction in DYT1 Dystonia

Science.gov (United States)

2015-07-01

20mM Tris-Cl (pH 7.6), 137 mM NaCl, 0.1% Tween 20, the membranes were incubated overnight at 4°C with rabbit anti-tor- sinA antibody (1:500; Abcam...during the juvenile period to changes in tor- sinA expression or function. Another consideration is the potential compensatory effects of torsinB, which...Buckley AC, Burdette AJ, et al. (2010) Chemical enhancement of tor- sinA function in cell and animal models of torsion dystonia. Dis Model Mech 3: 386–396

Rating scales for dystonia in cerebral palsy: reliability and validity.

Science.gov (United States)

Monbaliu, E; Ortibus, E; Roelens, F; Desloovere, K; Deklerck, J; Prinzie, P; de Cock, P; Feys, H

2010-06-01

This study investigated the reliability and validity of the Barry-Albright Dystonia Scale (BADS), the Burke-Fahn-Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). Three raters independently scored videotapes of 10 patients (five males, five females; mean age 13 y 3 mo, SD 5 y 2 mo, range 5-22 y). One patient each was classified at levels I-IV in the Gross Motor Function Classification System and six patients were classified at level V. Reliability was measured by (1) intraclass correlation coefficient (ICC) for interrater reliability, (2) standard error of measurement (SEM) and smallest detectable difference (SDD), and (3) Cronbach's alpha for internal consistency. Validity was assessed by Pearson's correlations among the three scales used and by content analysis. Moderate to good interrater reliability was found for total scores of the three scales (ICC: BADS=0.87; BFMMS=0.86; UDRS=0.79). However, many subitems showed low reliability, in particular for the UDRS. SEM and SDD were respectively 6.36% and 17.72% for the BADS, 9.88% and 27.39% for the BFMMS, and 8.89% and 24.63% for the UDRS. High internal consistency was found. Pearson's correlations were high. Content validity showed insufficient accordance with the new CP definition and classification. Our results support the internal consistency and concurrent validity of the scales; however, taking into consideration the limitations in reliability, including the large SDD values and the content validity, further research on methods of assessment of dystonia is warranted.

Clinico-Radiologic Findings in Primary Cutaneous Extranodal Natural Killer/T-Cell Lymphoma, Nasal Type Mimicking Cellulitis of the Left Arm

International Nuclear Information System (INIS)

Kim, Soo Hyun; Seon, Hyun Ju; Choi, Yoo Duk; Yun, Sook Jung

2015-01-01

Extranodal natural killer (NK)/T-cell lymphoma is a very rare and aggressive disease characterized histopathologically by an Epstein-Barr virus (EBV)-positive atypical lymphoid cytotoxic infiltrate, extensive vascular destruction, and prominent tissue necrosis. It commonly shows cutaneous lesions that primarily or secondarily mimic cellulitis at the primary site. We report on a very rare case of extranodal NK/T-cell lymphoma, nasal type of skin/soft tissue, in a 64-year-old man, and describe the radiological findings. The condition was misdiagnosed as cellulitis of the left arm based on initial noninvasive clinical and radiologic work-up

Blood pressure measurement: one arm or both arm?

Science.gov (United States)

Kulkarni, Prasad K; Shekhar, Susheela; Reddy, B N; Nirmala, B C

2011-09-01

Guidelines for measuring blood pressure includes measurement of blood pressure on both arms but it is often ignored. Our case report aims at highlighting the need follow the guidelines. A 60 year old 59 kg weighing male asymptomatic patient without any comobidities was posted for bilateral inguinal hernia repair. The interarm blood pressure difference was discovered incidentally during his preanaesthetic evalution. On further evaluation patient was found to be having subclavian stenosis on left side which was asymptomatic. Intraoperative and post operative period was uneventful. Blood pressure measurement should be done in accordance with the stipulated guidelines. Inter arm blood pressure difference should be noted in all patients as not only for diagnosis and treatment of hypertension but also as a tool to diagnose asymptomatic peripheral vascular disesase.

Blood harmane (1-methyl-9H-pyrido[3,4-b]indole) concentration in dystonia cases vs. controls.

Science.gov (United States)

Louis, Elan D; Factor-Litvak, Pam; Michalec, Monika; Jiang, Wendy; Zheng, Wei

2014-09-01

Harmane (1-methyl-9H-pyrido[3,4-b]indole) (HA) is a potent neurotoxin that has been linked to two neurological diseases, essential tremor and Parkinson's disease. Blood harmane concentrations [HA] are elevated in patients with both diseases. An important question is whether HA is specifically linked with these diseases or alternatively, is a non-specific marker of neurological illness. We assessed whether blood [HA] was elevated in patients with a third neurological disease, dystonia, comparing them to controls. Blood [HA] was quantified by high performance liquid chromatography. Subjects comprised 104 dystonia cases and 107 controls. Mean log blood [HA] in dystonia cases was similar to that of controls (0.41±0.51g(-10)/ml vs. 0.38±0.61g(-10)/ml, t=0.42, p=0.68). In unadjusted and adjusted logistic regression analyses, log blood [HA] was not associated with the outcome (diagnosis of dystonia vs. control): odds ratio (OR)unadjusted=1.11, 95% confidence interval (CI)=0.69-1.79, p=0.68; ORadjusted=1.07, 95% CI=0.58-1.97, p=0.84. In contrast to the elevated blood [HA] that has been reported in patients with essential tremor and Parkinson's disease, our data demonstrate that blood [HA] was similar in patients with dystonia and controls. These findings provide the first support for the notion that an elevated blood [HA] is not a broad feature of neurological disease, and may be a specific feature of certain tremor disorders. Copyright © 2014 Elsevier Inc. All rights reserved.

Mutations in the Na+/K+-ATPase alpha 3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

NARCIS (Netherlands)

Aguiar, PD; Sweadner, KJ; Penniston, JT; Zaremba, J; Liu, L; Caton, M; Linazasoro, G; Borg, M; Tijssen, MAJ; Bressman, SB; Dobyns, WB; Brashear, A; Ozelius, LJ

2004-01-01

Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. The sudden onset of symptoms over hours to a few weeks,

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

NARCIS (Netherlands)

de Carvalho Aguiar, Patricia; Sweadner, Kathleen J.; Penniston, John T.; Zaremba, Jacek; Liu, Liu; Caton, Marsha; Linazasoro, Gurutz; Borg, Michel; Tijssen, Marina A. J.; Bressman, Susan B.; Dobyns, William B.; Brashear, Allison; Ozelius, Laurie J.

2004-01-01

Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. The sudden onset of symptoms over hours to a few weeks,

Influence of heart rhythm, breathing and arm position during computed tomography scanning on the registration accuracy of electro anatomical map (EAM) images, left atrium three-dimensional computed tomography angiography images, and fluoroscopy time during ablation to treat atrial fibrillation

International Nuclear Information System (INIS)

Chono, Taiki; Shimoshige, Shinya; Yoshikawa, Kenta; Mizonobe, Kazuhusa; Ogura, Keishi

2013-01-01

In CARTOMERGE for treatment of atrial fibrillation (AF) by ablation, by integrating electro anatomical map (EAM) and left atrium three-dimensional computed tomography angiography (3D-CTA) images, identification of the ablation points is simplified and the procedure can be made carried out more rapidly. However, the influence that heart rhythm, breathing and arm position during CT scanning have on registration accuracy and fluoroscopy time is not clear. To clarify the influence on registration accuracy and fluoroscopy time of heart rhythm, breathing and arm position during CT scanning. The patients were CT-scanned during both sinus rhythm (SR) and AF in each study subject. We evaluated the registration accuracy of images reconstructed between the cardiac cycle and assessed the registration accuracy and fluoroscopy time of images obtained during inspiratory breath-hold, expiratory breath-hold and up and down position of the arm. Although the registration accuracy of the EAM image and left atrium 3D-CTA image showed a significant difference during SR, no significant difference was seen during AF. Expiratory breath-hold and down position of the arm resulted in the highest registration accuracy and the shortest fluoroscopy time. However, arm position had no significant effect on registration accuracy. Heart rhythm and breathing during CT scanning have a significant effect on the registration accuracy of EAM images, left atrium 3D-CTA images, and fluoroscopy time. (author)

Infantile parkinsonism-dystonia: a dopamine “transportopathy”

OpenAIRE

Blackstone, Craig

2009-01-01

The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine. In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by lo...

A Headset Method for Measuring the Visual Temporal Discrimination Threshold in Cervical Dystonia

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Anna Molloy

2014-07-01

Full Text Available Background: The visual temporal discrimination threshold (TDT is the shortest time interval at which one can determine two stimuli to be asynchronous and meets criteria for a valid endophenotype in adult‐onset idiopathic focal dystonia, a poorly penetrant disorder. Temporal discrimination is assessed in the hospital laboratory; in unaffected relatives of multiplex adult‐onset dystonia patients distance from the hospital is a barrier to data acquisition. We devised a portable headset method for visual temporal discrimination determination and our aim was to validate this portable tool against the traditional laboratory‐based method in a group of patients and in a large cohort of healthy controls. Methods: Visual TDTs were examined in two groups 1 in 96 healthy control participants divided by age and gender, and 2 in 33 cervical dystonia patients, using two methods of data acquisition, the traditional table‐top laboratory‐based system, and the novel portable headset method. The order of assessment was randomized in the control group. The results obtained by each technique were compared. Results: Visual temporal discrimination in healthy control participants demonstrated similar age and gender effects by the headset method as found by the table‐top examination. There were no significant differences between visual TDTs obtained using the two methods, both for the control participants and for the cervical dystonia patients. Bland–Altman testing showed good concordance between the two methods in both patients and in controls.Discussion: The portable headset device is a reliable and accurate method for visual temporal discrimination testing for use outside the laboratory, and will facilitate increased TDT data collection outside of the hospital setting. This is of particular importance in multiplex families where data collection in all available members of the pedigree is important for exome sequencing studies.

Dystonia in complex regional pain syndrome : clinical, pathophysiological and therapeutic aspects

NARCIS (Netherlands)

Rijn, Monica Adriana van

2010-01-01

The clinical characteristics of Complex Regional Pain Syndrome (CRPS) are defined by pain and various combinations of sensory disturbances, autonomic features, and sudomotor and trophic changes. Furthermore, patients with CRPS may suffer from movement disorders, of which dystonia is the most

Integration of Sensory Force Feedback Is Disturbed in CRPS-Related Dystonia

NARCIS (Netherlands)

Mugge, W.; van der Helm, F.C.T.; Schouten, Alfred Christiaan

2013-01-01

Complex regional pain syndrome (CRPS) is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed

High-definition transcranial direct-current stimulation of the right M1 further facilitates left M1 excitability during crossed facilitation.

Science.gov (United States)

Cabibel, Vincent; Muthalib, Makii; Teo, Wei-Peng; Perrey, Stephane

2018-04-01

The crossed-facilitation (CF) effect refers to when motor-evoked potentials (MEPs) evoked in the relaxed muscles of one arm are facilitated by contraction of the opposite arm. The aim of this study was to determine whether high-definition transcranial direct-current stimulation (HD-tDCS) applied to the right primary motor cortex (M1) controlling the left contracting arm [50% maximum voluntary isometric contraction (MVIC)] would further facilitate CF toward the relaxed right arm. Seventeen healthy right-handed subjects participated in an anodal and cathodal or sham HD-tDCS session of the right M1 (2 mA for 20 min) separated by at least 48 h. Single-pulse transcranial magnetic stimulation (TMS) was used to elicit MEPs and cortical silent periods (CSPs) from the left M1 at baseline and 10 min into and after right M1 HD-tDCS. At baseline, compared with resting, CF (i.e., right arm resting, left arm 50% MVIC) increased left M1 MEP amplitudes (+97%) and decreased CSPs (-11%). The main novel finding was that right M1 HD-tDCS further increased left M1 excitability (+28.3%) and inhibition (+21%) from baseline levels during CF of the left M1, with no difference between anodal and cathodal HD-tDCS sessions. No modulation of CSP or MEP was observed during sham HD-tDCS sessions. Our findings suggest that CF of the left M1 combined with right M1 anodal or cathodal HD-tDCS further facilitated interhemispheric interactions during CF from the right M1 (contracting left arm) toward the left M1 (relaxed right arm), with effects on both excitatory and inhibitory processing. NEW & NOTEWORTHY This study shows modulation of the nonstimulated left M1 by right M1 HD-tDCS combined with crossed facilitation, which was probably achieved through modulation of interhemispheric interactions.

Clinical features of dystonia in atypical parkinsonism Características clínicas da distonia no parkinsonismo atípico

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Clecio Godeiro-Junior

2008-12-01

Full Text Available BACKGROUND: The association between Dystonia and Parkinson's disease (PD has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients. METHOD: A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn&Yahr scale >3 after three years of disease, and magnetic resonance imaging findings. RESULTS: The overall frequency of dystonia in our sample was 50% with 30.4% (n=7 in the MSA group, 62.5% (n=5 in the PSP group, and 100% (n=8 in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia. CONCLUSION: In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50% and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients.INTRODUÇÃO: A associação de distonia e doença de Parkinson (DP já foi bem estabelecida, principalmente para distonia focal em pé ou mão. Entretanto, há poucos dados quanto a distonia em pacientes com parkinsonismo atípico. OBJETIVO: Avaliar a freqüência e o padrão da distonia em um

Inter-arm blood pressure differences compared with ambulatory monitoring: a manifestation of the 'white-coat' effect?

Science.gov (United States)

Martin, Una; Holder, Roger; Hodgkinson, James; McManus, Richard

2013-02-01

Inter-arm difference in blood pressure of >10 mmHg is associated with peripheral vascular disease, but it is unclear how much of the difference in sequential right and left arm blood pressure measurements might be due to a 'white-coat' effect. To use ambulatory blood pressure monitoring (ABPM) to better understand the clinical significance of inter-arm differences in blood pressure. Retrospective study in a teaching hospital in Birmingham. Anonymised clinical data collected from 784 patients attending a single hospital-based hypertension clinic were retrospectively analysed. Each participant had blood pressure measured sequentially in both arms, followed by ABPM over the subsequent 24 hours. Data were available for 710 (91%) patients, of whom 39.3% (279) had a blood pressure difference of 10 mmHg or more between each arm. Compared to daytime systolic ABPM, the difference was 25.1 mmHg using the arm with the highest reading, but only 15.5 mmHg if the lower reading was taken (mean difference 9.6 mmHg (95% confidence interval [CI] = 9.0 mmHg to 10.3 mmHg)). However, differences between mean right (20.7 mmHg) or left (19.9 mmHg) arm blood pressure and daytime systolic ABPM were very similar. Compared with ABPM, use of the higher of the left and right arm readings measured sequentially appears to overestimate true mean blood pressure. As there is no significant difference in the extent of disparity with ABPM by left or right arm, this is unlikely to be due to arm dominance and may be due to the 'white-coat' effect reducing blood pressure on repeated measurement. Where a large inter-arm blood pressure difference is detected with sequential measurement, healthcare professionals should re-measure the blood pressure in the original arm.

Normalization of sensorimotor integration by repetitive transcranial magnetic stimulation in cervical dystonia

NARCIS (Netherlands)

Zittel, S.; Helmich, R.C.G.; Demiralay, C.; Munchau, A.; Baumer, T.

2015-01-01

Previous studies indicated that sensorimotor integration and plasticity of the sensorimotor system are impaired in dystonia patients. We investigated motor evoked potential amplitudes and short latency afferent inhibition to examine corticospinal excitability and cortical sensorimotor integration,

Left-right asymmetry of maturation rates in human embryonic neural development

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De Kovel, C.; Lisgo, S.; Karlebach, G.; Ju, J.; Cheng, G.; Fisher, S.; Francks, C.

2017-01-01

Background Left-right asymmetry is a fundamental organizing feature of the human brain, and neuro-psychiatric disorders such as schizophrenia sometimes involve alterations of brain asymmetry. As early as 8 weeks post conception, the majority of human fetuses move their right arms more than their left arms, but because nerve fibre tracts are still descending from the forebrain at this stage, spinal-muscular asymmetries are likely to play an important developmental role. Methods We used RNA seq...

Distonia primária e transtorno obsessivo-compulsivo Primary dystonia and obsessive-compulsive disorder

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Fernando Machado Vilhena Dias

2007-01-01

Full Text Available OBJETIVO: Uma maior freqüência de transtorno obsessivo-compulsivo (TOC em pacientes com distonia primária vem sendo relatada na literatura. O objetivo deste trabalho é revisar os estudos que investigaram a associação entre TOC e distonia primária. MÉTODOS: Artigos que correlacionaram ambas as condições, incluindo estudos caso-controle, descritivos, relatos e série de casos, foram selecionados. As bases de dados avaliadas foram Medline e Lilacs. RESULTADOS: Foram encontrados 12 artigos, sendo 8 estudos caso-controle e 4 séries ou relatos de casos. Metade dos estudos caso-controle observou mais sintomas obsessivo-compulsivos nos pacientes com distonia em relação a controles, enquanto a outra metade não. CONCLUSÃO: Os resultados são conflitantes, não sendo possível estabelecer uma conclusão definitiva acerca da associação entre distonia e TOC.OBJECTIVE: Patients with primary dystonia have been reported to have a major incidence of obsessive-compulsive disorder (OCD. The objective of the present work is to review the studies that investigated the association between OCD and primary dystonia. METHODS: Articles that correlated both conditions, including case-control and descriptive studies as well as case-reports and series, were selected. Articles were searched on Medline and Lilacs. RESULTS: Twelve articles were found, and eight were case-control studies. In half of case-control studies, obsessive-compulsive symptoms were more common in patients with dystonia than controls, while in the other half there was no such a difference. CONCLUSION: As the results are controversial, definite conclusion regarding the association between dystonia and OCD cannot be established.

Dystonia in neurodegeneration with brain iron accumulation : outcome of bilateral pallidal stimulation

NARCIS (Netherlands)

Timmermann, L.; Pauls, K. A. M.; Wieland, K.; Jech, R.; Kurlemann, G.; Sharma, N.; Gill, S. S.; Haenggeli, C. A.; Hayflick, S. J.; Hogarth, P.; Leenders, K. L.; Limousin, P.; Malanga, C. J.; Moro, E.; Ostrem, J. L.; Revilla, F. J.; Santens, P.; Schnitzler, A.; Tisch, S.; Valldeoriola, F.; Vesper, J.; Volkmann, J.; Woitalla, D.; Peker, S.

Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty

Cost-effectiveness analysis of abobotulinumtoxinA for the treatment of cervical dystonia in the United Kingdom

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Muthukumar M

2017-04-01

Full Text Available Madhusubramanian Muthukumar,1 Kamal Desai,1 Seye Abogunrin,2 Timothy Harrower,3 Sylvie Gabriel,4 Jerome Dinet5 1Modelling and Simulation, 2Meta Research, Evidera, London, 3Royal Devon and Exeter NHS Foundation Trust, Exeter, UK; 4Global Market Access and Pricing, 5Health Economics and Outcomes Research (Global, Ipsen Pharma, Boulogne-Billancourt, France Background: Cervical dystonia (CD involves painful involuntary contraction of the neck and shoulder muscles and abnormal posture in middle-aged adults. Botulinum neurotoxin type A (BoNT-A is effective in treating CD but little is known about its associated cost-effectiveness.Objective: To evaluate the cost-effectiveness of abobotulinumtoxinA for treating CD from the UK payer perspective.Methods: A Markov model was developed to evaluate the cost-effectiveness of abobotulinumtoxinA versus best supportive care (BSC in CD, with a lifetime horizon and health states for response, nonresponse, secondary nonresponse, and BSC in patients with CD (mean age: 53 years; 37% male. Clinical improvement measured using Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS was mapped to utility using data from a randomized trial of abobotulinumtoxinA. Health care resource use, costs, and other inputs were from the British National Formulary, Personal Social Services Research Unit, published literature, or expert opinion. Costs and outcomes were discounted at 3.5% per annum.Results: In the base case, the incremental lifetime quality-adjusted life-years (QALYs gained from abobotulinumtoxinA arm versus BSC was 0.253 per patient, whereas the incremental cost was £7,160, leading to an incremental cost-effectiveness ratio (ICER of £30,468 per QALY. One-way sensitivity analyses showed that these results were sensitive to the proportion of responders to abobotulinumtoxinA at first injection, duration between injections, the number of reinjections allowed among primary nonresponders, and any difference in

Clinical, Etiological and Therapeutic Features of Jaw-opening and Jaw-closing Oromandibular Dystonias: A Decade of Experience at a Single Treatment Center

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Pedro Gonzalez-Alegre

2014-04-01

Full Text Available Background: Dystonia is a heterogeneous hyperkinetic disorder. The anatomical location of the dystonia helps clinicians guide their evaluation and treatment plan. When dystonia involves masticatory, lingual, and pharyngeal muscles, it is referred to as oromandibular dystonia (OMD.Methods: We identified patients diagnosed with OMD in a Movement Disorders Clinic and Laryngeal Movement Disorders Clinic from a single institution. Demographic, etiological, clinical, and therapeutic information was retrospectively reviewed for patients with jaw‐opening (O‐OMD and jaw‐closing (C‐OMD OMD.Results: Twenty‐seven patients were included. Their average age of onset was in the sixth decade of life and there was a female predominance. Etiological factors linked in this study to OMD included a family history of dystonia or essential tremor, occupation, cerebellar disease, a dental disorder, and tardive syndrome. Clinically, patients with C‐OMD presented with more prominent feeding difficulties, but seemed to respond better to therapy than those with O‐OMD. In addition to the known benefits of botulinum toxin therapy, patients who described sensory tricks obtained benefit from the use of customized dental prosthesis.Discussion: This works provides useful information on potential etiological factors for OMD and its response to therapy, and highlights the potential benefit of dental prosthesis for the treatment of OMD.

Inter-arm blood pressure differences compared with ambulatory monitoring: a manifestation of the ‘white-coat’ effect?

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Martin, Una; Holder, Roger; Hodgkinson, James; McManus, Richard

2013-01-01

Background Inter-arm difference in blood pressure of >10 mmHg is associated with peripheral vascular disease, but it is unclear how much of the difference in sequential right and left arm blood pressure measurements might be due to a ‘white-coat’ effect. Aim To use ambulatory blood pressure monitoring (ABPM) to better understand the clinical significance of inter-arm differences in blood pressure. Design and setting Retrospective study in a teaching hospital in Birmingham. Method Anonymised clinical data collected from 784 patients attending a single hospital-based hypertension clinic were retrospectively analysed. Each participant had blood pressure measured sequentially in both arms, followed by ABPM over the subsequent 24 hours. Result Data were available for 710 (91%) patients, of whom 39.3% (279) had a blood pressure difference of 10 mmHg or more between each arm. Compared to daytime systolic ABPM, the difference was 25.1 mmHg using the arm with the highest reading, but only 15.5 mmHg if the lower reading was taken (mean difference 9.6 mmHg (95% confidence interval [CI] = 9.0 mmHg to 10.3 mmHg)). However, differences between mean right (20.7 mmHg) or left (19.9 mmHg) arm blood pressure and daytime systolic ABPM were very similar. Conclusion Compared with ABPM, use of the higher of the left and right arm readings measured sequentially appears to overestimate true mean blood pressure. As there is no significant difference in the extent of disparity with ABPM by left or right arm, this is unlikely to be due to arm dominance and may be due to the ‘white-coat’ effect reducing blood pressure on repeated measurement. Where a large inter-arm blood pressure difference is detected with sequential measurement, healthcare professionals should re-measure the blood pressure in the original arm. PMID:23561681

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia

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Silvia Rota

2014-12-01

Full Text Available Friedreich ataxia (FRDA is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN on chromosome 9q13-q21.1. Onset is usually in the first or second decade of life; however, late-onset cases of Freidreich ataxia (LOFA, after the age of 25 years, and very late-onset cases of Freidreich ataxia (VLOFA, after the age of 40 years, have been reported. VLOFA is quite rare and usually presents a milder progression of the disease. We report the case of a 64-year-old woman affected with VLOFA whose first symptoms (balance and gait disturbances occurred at the age of 44 years. At the age of 62 years, she started complaining of a slowly progressive dysphonia showing the clinical aspects of laryngeal dystonia. Molecular analysis showed a 210- and 230-trinucleotide GAA repeat expansion in the two alleles of the FXN gene. Laryngeal dystonia has been reported only in very few cases of ataxia syndrome and never before in FRDA patients. It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA.

Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

Science.gov (United States)

Domingo, Aloysius; Lee, Lillian V; Brüggemann, Norbert; Freimann, Karen; Kaiser, Frank J; Jamora, Roland D G; Rosales, Raymond L; Klein, Christine; Westenberger, Ana

2014-09-01

Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines. In a Filipino woman with suspected Parkinson disease, we confirmed the presence of all changes specific for X-linked dystonia-parkinsonism in genomic DNA. Subsequently, we analyzed complementary DNA and evaluated the methylation status of the androgen receptor gene. Owing to extremely skewed (98%:2%) X-chromosome inactivation, the patient expressed almost solely the mutated allele in a disease-specific change, rendering her molecularly comparable with a hemizygously affected man. Skewed X-chromosome inactivation is the likely cause of parkinsonism in this heterozygous mutation carrier. Because women carriers of the genetic changes specific for X-linked dystonia-parkinsonism are common in the Philippines, the epigenetic factor of nonrandom X-chromosome inactivation may contribute to the skewing of the sex prevalence of parkinsonism toward women in this country, warranting further investigation.

Multiday Transcranial Direct Current Stimulation Causes Clinically Insignificant Changes in Childhood Dystonia: A Pilot Study.

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Bhanpuri, Nasir H; Bertucco, Matteo; Young, Scott J; Lee, Annie A; Sanger, Terence D

2015-10-01

Abnormal motor cortex activity is common in dystonia. Cathodal transcranial direct current stimulation may alter cortical activity by decreasing excitability while anodal stimulation may increase motor learning. Previous results showed that a single session of cathodal transcranial direct current stimulation can improve symptoms in childhood dystonia. Here we performed a 5-day, sham-controlled, double-blind, crossover study, where we measured tracking and muscle overflow in a myocontrol-based task. We applied cathodal and anodal transcranial direct current stimulation (2 mA, 9 minutes per day). For cathodal transcranial direct current stimulation (7 participants), 3 subjects showed improvements whereas 2 showed worsening in overflow or tracking error. The effect size was small (about 1% of maximum voluntary contraction) and not clinically meaningful. For anodal transcranial direct current stimulation (6 participants), none showed improvement, whereas 5 showed worsening. Thus, multiday cathodal transcranial direct current stimulation reduced symptoms in some children but not to a clinically meaningful extent, whereas anodal transcranial direct current stimulation worsened symptoms. Our results do not support transcranial direct current stimulation as clinically viable for treating childhood dystonia. © The Author(s) 2015.

Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor

NARCIS (Netherlands)

Zoons, Evelien; Booij, Jan; Delnooz, Catherine C. S.; Dijk, Joke M.; Dreissen, Yasmine E. M.; Koelman, Johannes H. T. M.; van der Salm, Sandra M. A.; Skorvanek, Matej; Smit, Marenka; Aramideh, Majid; Bienfait, Henriette; Boon, Agnita J. W.; Brans, Jeroen W. M.; Hoogerwaard, Edo; Hovestadt, Ad; Kamphuis, Daan J.; Munts, Alexander G.; Speelman, Johannes D.; Tijssen, Marina A. J.

2018-01-01

Trials for additional or alternative treatments for cervical dystonia (CD) are scarce since the introduction of botulinum neurotoxin (BoNT). We performed the first trial to investigate whether dystonic jerks/tremor in patients with CD respond to the selective serotonin reuptake inhibitor (SSRI)

Genetic HLA Associations in Complex Regional Pain Syndrome With and Without Dystonia

NARCIS (Netherlands)

van Rooijen, D.E.; Roelen, D.L.; Verduijn, W.; Haasnoot, G.W.; Huygen, F.J.P.M.; Perez, R.S.G.M.; Claas, F.H.J.; Marinus, J.; van Hilten, J.J.; van den Maagdenberg, A.M.J.M.

2012-01-01

We previously showed evidence for a genetic association of the human leukocyte antigen (HLA) system and complex regional pain syndrome (CRPS) with dystonia. Involvement of the HLA system suggests that CRPS has a genetic component with perturbed regulation of inflammation and neuroplasticity as

kinesiotaping reduces pain and modulates sensory function in patients with focal dystonia: a randomized crossover pilot study.

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Pelosin, Elisa; Avanzino, Laura; Marchese, Roberta; Stramesi, Paola; Bilanci, Martina; Trompetto, Carlo; Abbruzzese, Giovanni

2013-10-01

Pain is one of the most common and disabling "nonmotor" symptoms in patients with dystonia. No recent study evaluated the pharmacological or physical therapy approaches to specifically treat dystonic pain symptoms. To evaluate the effectiveness of KinesioTaping in patients with cervical dystonia (CD) and focal hand dystonia (FHD) on self-reported pain (primary objective) and on sensory functions (secondary objective). Twenty-five dystonic patients (14 with CD and 11 FHD) entered a randomized crossover pilot study. The patients were randomized to 14-day treatment with KinesioTaping or ShamTaping over neck (in CD) or forearm muscles (in FHD), and after a 30-day washout period, they received the other treatment. The were 3 visual analog scales (VASs) for usual pain, worst pain, and pain relief. Disease severity changes were evaluated by means of the Toronto Western Spasmodic Torticollis Rating Scale (CD) and the Writer's Cramp Rating Scale (FHD). Furthermore, to investigate possible KinesioTaping-induced effects on sensory functions, we evaluated the somatosensory temporal discrimination threshold. Treatment with KinesioTape induced a decrease in the subjective sensation of pain and a modification in the ability of sensory discrimination, whereas ShamTaping had no effect. A significant, positive correlation was found in both groups of patients between the improvement in the subjective sensation of pain and the reduction of somatosensory temporal discrimination threshold values induced by KinesioTaping. These preliminary results suggest that KinesioTaping may be useful in treating pain in patients with dystonia.

Left subclavian artery revascularization as part of thoracic stent grafting

NARCIS (Netherlands)

Saouti, N.; Hindori, V.; Morshuis, W.J.; Heijmen, R.H.

2015-01-01

OBJECTIVES: Intentional covering of the left subclavian artery (LSA) as part of thoracic endovascular aortic repair (TEVAR) can cause (posterior) strokes or left arm malperfusion. LSA revascularization can be done as prophylaxis against, or as treatment of, these complications. We report our

Is two better than one? Limb Activation Treatment combined with Contralesional Arm Vibration to ameliorate signs of left neglect

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Marco ePitteri

2013-08-01

Full Text Available In the present study, we evaluated the effects of the Limb Activation Treatment (LAT alone and in combination with the Contralateral Arm Vibration (CAV on left neglect (LN rehabilitation. We conceived them as techniques that both prompt the activation of the lesioned right hemisphere because of the activation (with the LAT as an active technique and the stimulation (with the CAV as a passive technique of the left hemibody. To test the effect of the simultaneous use of these two techniques (i.e., LAT and CAV on visuo-spatial aspects of LN, we described the case of a LN patient (GR, who showed high intra-individual variability (IIV in performance. Given the high IIV of GR, we used an ABAB repeated-measures design to better define the effectiveness of the combined application of LAT and CAV, as a function of time. The results showed an improvement of GR’s performance on the Bells test following the combined application of LAT and CAV, with respect to the application of LAT alone. We did not find, however, significant effects of treatment on two other LN tests (i.e., Line bisection and Picture scanning. We propose that the combined application of LAT and CAV can be beneficial for some aspects of LN.

Dopamine receptor and Gα(olf expression in DYT1 dystonia mouse models during postnatal development.

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Lin Zhang

Full Text Available DYT1 dystonia is a heritable, early-onset generalized movement disorder caused by a GAG deletion (ΔGAG in the DYT1 gene. Neuroimaging studies and studies using mouse models suggest that DYT1 dystonia is associated with dopamine imbalance. However, whether dopamine imbalance is key to DYT1 or other forms of dystonia continues to be debated.We used Dyt1 knock out (Dyt1 KO, Dyt1 ΔGAG knock-in (Dyt1 KI, and transgenic mice carrying one copy of the human DYT1 wild type allele (DYT1 hWT or human ΔGAG mutant allele (DYT1 hMT. D1R, D2R, and Gα(olf protein expression was analyzed by western blot in the frontal cortex, caudate-putamen and ventral midbrain in young adult (postnatal day 60; P60 male mice from all four lines; and in the frontal cortex and caudate putamen in juvenile (postnatal day 14; P14 male mice from the Dyt1 KI and KO lines. Dopamine receptor and Gα(olf protein expression were significantly decreased in multiple brain regions of Dyt1 KI and Dyt1 KO mice and not significantly altered in the DYT1 hMT or DYT1 hWT mice at P60. The only significant change at P14 was a decrease in D1R expression in the caudate-putamen of the Dyt1 KO mice.We found significant decreases in key proteins in the dopaminergic system in multiple brain regions of Dyt1 KO and Dyt1 KI mouse lines at P60. Deletion of one copy of the Dyt1 gene (KO mice produced the most pronounced effects. These data offer evidence that impaired dopamine receptor signaling may be an early and significant contributor to DYT1 dystonia pathophysiology.

Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

NARCIS (Netherlands)

Gerrits, M. C. F.; Foncke, E. M. J.; Koelman, J. H. T. M.; Tijssen, M. A. J.

2009-01-01

Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due

Pediatric writer's cramp in myoclonus-dystonia : Maternal imprinting hides positive family history

NARCIS (Netherlands)

Gerrits, M. C. F.; Foncke, E. M. J.; Koelman, J. H. T. M.; Tijssen, M. A. J.

Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due

Refractory Dysphonia Due to Isolated Cricothyroid Muscle Dystonia.

Science.gov (United States)

Kraft, Shannon; Childes, Jana; Hillel, Allen; Schindler, Joshua

2016-07-01

To demonstrate the utility of electromyography (EMG) in the evaluation and management of treatment-resistant dysphonia. We report a case of refractory dysphonia in which EMG was used to identify and treat isolated cricothyroid (CT) dystonia. The patient, a healthy 43-year-old woman, presented with 9 months of progressive hoarseness. Her symptoms were present across vocal tasks but were particularly bothersome while dictating. On presentation, her voice was rated grade 3, roughness 3, breathiness 1, asthenia 0, and strain 3 (G3R3B1A0S3). Videostroboscopy was remarkable for hyperfunction. Voice therapy was not beneficial despite appropriate effort. Microdirect laryngoscopy revealed no evidence of structural pathology. The patient was referred for EMG because of her normal examination and failure to improve with therapy. The CT muscle demonstrated an increased latency of 750 ms in all vocal tasks. One month after CT injection with 3 units of botulinum toxin (BTX), her voice was improved. Perceptual voice evaluation was rated G1R1B0A0S1. Voice Handicap Index improved from 87 to 35. In the absence of structural pathology, EMG can be a useful adjunct in the diagnosis of dysphonia that persists despite adequate trials of voice therapy. To our knowledge, this is the only report of laryngeal dystonia due to isolated CT dysfunction successfully treated with BTX. Copyright © 2016 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

DEFF Research Database (Denmark)

Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob

2015-01-01

INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia. CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrom...

Dystonia in children and adolescents : a systematic review and a new diagnostic algorithm

NARCIS (Netherlands)

van Egmond, Martje E.; Kuiper, Anouk; Eggink, Hendriekje; Sinke, Richard J.; Brouwer, Oebele F.; Verschuuren - Bemelmans, Corien C.; Sival, Deborah A.; Tijssen, Marina A. J.; de Koning, Tom J.

Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm

Hemichorea and dystonia due to frontal lobe meningioma

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Abdul Qayyum Rana

2014-01-01

Full Text Available Tumors originating from the meninges, also known as meningiomas, have rarely been known to cause parkinsonian symptoms and other movement disorders. Although some cases of AV malformations causing movement disorders have been described in the literature, not much has been reported about meningiomas in this regard. The aim of this case report is to further highlight the importance of brain imaging in patients with movement disorders for even a benign tumor; and also emphasize the need for a careful movement disorder examination because more than one phenomenology of movement disorders may result from the mechanical pressure caused by a tumor. We present a case report of a patient with a heavily calcified right frontal lobe meningioma. Our patient had irregular, involuntary, brief, fleeting and unpredictable movements of her left upper and lower extremities, consistent with chorea. The patient also had abnormal dystonic posturing of her left arm while walking. This case report highlights the importance of brain imaging as well as careful neurological examinations of patients with benign meningiomas. Moreover, it illustrates the remarkable specificity yet clinical diversity of meningiomas in presentation through movement disorders.

Twiddler's syndrome in a patient with a deep brain stimulation device for generalized dystonia

DEFF Research Database (Denmark)

Astradsson, Arnar; Schweder, Patrick M; Joint, Carole

2011-01-01

Deep brain stimulation (DBS) is the technique of neurostimulation of deep brain structures for the treatment of conditions such as essential tremor, dystonia, Parkinson's disease and chronic pain syndromes. The procedure uses implanted deep brain stimulation electrodes connected to extension leads...... and an implantable pulse generator (IPG). Hardware failure related to the DBS procedure is not infrequent, and includes electrode migration and disconnection. We describe a patient who received bilateral globus pallidus internus DBS for dystonia with initially good clinical response, but the device eventually failed....... Radiographs showed multiple twisting of the extension leads with disconnection from the brain electrodes and a diagnosis of Twiddler's syndrome was made. Twiddler's syndrome was first described in patients with cardiac pacemakers. Patients with mental disability, elderly and obese patients are at increased...

Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia

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Hubert Fernandez

2013-05-01

Full Text Available Background: We report the interim results from XCiDaBLE: A large prospective, observational "naturalistic" study evaluating Xeomin® (incobotulinumtoxinA for cervical dystonia or blepharospasm in the United States.Methods: Subjects with CD are followed for 2 treatment cycles and monitored via Interactive Voice/Web Response. Subject-reported scales include the Subject Global Impression-Severity and Improvement; Cervical Dystonia Impact Profile (CDIP-58; and Work Productivity and Quality of Life (QoL are assessed by means of an employment questionnaire and work history and the SF-12v2.Results: This ongoing study includes 145 subjects with a diagnosis of CD. The majority were female (82.3% and White (91.0% and had previously been treated with botulinum toxins (77.2%. There were 106 employed at the time of onset of the disease, but 12.6 years later only 44% were still employed at the time of enrolment into the study and 20% were either receiving or seeking disability benefits. However, only 44% were still employed at the time of recruitment for study participation. The mean total dose/treatment of CD was 225.2 units for the 1st injection. The CDIP-58 total score was significantly improved at four weeks post the first injection compared to baseline (p=<0.0001. Most subjects noted improvement in their global impression assessment. No new or unexpected adverse events occurred. Discussion: The results from these interim analyses confirm previous controlled single-dose studies of incobotulinumtoxinA in terms of efficacy and safety.

Fluorine-18-fluorodeoxyglucose positron emission tomography (PET) brain imaging patterns in patients with suspected X-linked dystonia parkinsonism (study in progress)

International Nuclear Information System (INIS)

Santiago, J.F.Y.; Fugoso, L.; Evidente, V.G.H.

2004-01-01

Objective: X-linked dystonia-parkinsonism (XDP or Lubag) is an adult-onset dystonia syndrome that afflicts mostly Filipino men from the island of Panay, Philippines.It starts focally and becomes generalized or multifocal after the first five years. Parkinsonism is commonly encountered as the initial symptom before the onset of dystonia. Patients may manifest a wide spectrum of movement disorders, including myoclonus, chorea, akathisia, ballism and myorhythmia. Diagnosis is based on the clinical presentation, and the establishment of an x-linked recessive pattern of inheritance and maternal roots from the Panay Islands. Neuroimaging in advanced cases have demonstrated caudate and putaminal atrophy. Previous studies using PET have shown selective reduction in normalized striatal glucose metabolism. The purpose of this study is to describe the FDG distribution using PET imaging in Filipino patients with suspected or confirmed Lubag in various stages of their disease in order to determine if FDG-PET can be used in the initial diagnosis and staging of the disease. Methods and results: All patients presenting to the Movement Disorders Center of St. Lukes Medical Center with dystonia and Parkinsonism symptoms with X-linked recessive inheritance pattern and maternal roots traceable to the Panay Islands were sent for a Brain FDG PET Scan. Seven male patients with various movement disorders (dysarthria, face dystonia, Parkinsonism, hemibalismus, involuntary movements and rest tremors) with duration of symptoms from 1 to 5 years underwent a PET scan. All patients had non visualized bilateral putamen, four had hypometabolic caudate nuclei, one had intense (hypermetabolic) caudate nuclei. CT scan and MRI did not show any findings which may explain the movement disorder symptoms. More patients are being collected and gene typing is planned for some patients. Conclusions: This small series of patients demonstrate that patients with the phenotypic characteristics of X

Interdisciplinary recognizing and managing of drug-induced tardive oromandibular dystonia: two case reports

DEFF Research Database (Denmark)

Bakke, Merete; Henriksen, Tove; Biernat, Heidi Bryde

2018-01-01

Key Clinical Message Tardive dystonia is a risk factor in medical antipsychotic treatment. It often begins with repetitive involuntary jaw and tongue movements resulting in impaired chewing and detrimental effect on the dentition. The orofacial dysfunction may go unrecognized in a neurological se...

Focal Dystonia in Hemiplegic Upper Limb: Favorable Effect of Cervical Microsurgical DREZotomy Involving the Ventral Horn - A Report of 3 Patients.

Science.gov (United States)

Sindou, Marc; Georgoulis, George

2016-01-01

Focal dystonia in hemiplegic upper limbs is poorly responsive to medications or classical neurosurgical treatments. Only repeated botulinum toxin injections show efficacy, but in most severe cases effects are transient. Cervical DREZ lesioning, which has proven efficacious in hyperspasticity when done deeply (3-5 mm) in the dorsal horn, may have favorable effects on the dystonic component when performed down to, and including, the base of the ventral horn (5-6 mm in depth). Three patients underwent deep cervical microsurgical DREZotomy (MDT) for focal dystonia in the upper limb. Hypertonia was reduced, and sustained dystonic postures were suppressed. Residual motor function (hidden behind hypertonia) came to the surface. Cervical MDT may be a useful armamentarium for treating refractory focal dystonia in the upper limb. © 2016 S. Karger AG, Basel.

Movement - uncontrolled or slow

Science.gov (United States)

Dystonia; Involuntary slow and twisting movements; Choreoathetosis; Leg and arm movements - uncontrollable; Arm and leg movements - uncontrollable; Slow involuntary movements of large muscle groups; Athetoid movements

Primary Focal Dystonia: Evidence for Distinct Neuropsychiatric and Personality Profiles

OpenAIRE

2009-01-01

Abstract Background: Primary focal dystonia (PFD) is characterized by motor symptoms. Frequent co-occurrence of abnormal mental conditions has been mentioned for decades but is less well defined. We evaluated prevalence rates of psychiatric disorders, personality disorders and traits in a large cohort of PFD patients. Methods: Prevalence rates of clinical psychiatric diagnoses in 86 PFD patients were compared to a population-based sample (N=3943) using a multiple regress...

Relationships between Serotonin Transporter Binding in the Raphe Nuclei, Basal Ganglia, and Hippocampus with Clinical Symptoms in Cervical Dystonia : A [C]DASB Positron Emission Tomography Study

NARCIS (Netherlands)

Smit, Marenka; Vállez García, David; de Jong, Bauke M; Zoons, Evelien; Booij, Jan; Dierckx, Rudi A; Willemsen, Antoon T; de Vries, Erik F; Bartels, Anna L; Tijssen, Marina A

2018-01-01

Purpose: Alterations of the central serotonergic system have been implicated in the pathophysiology of dystonia. In this molecular imaging study, we assessed whether altered presynaptic serotonin transporter (SERT) binding contributes to the pathophysiology of cervical dystonia (CD), concerning both

Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.

Science.gov (United States)

Assmann, Birgit; Köhler, Martin; Hoffmann, Georg F; Heales, Simon; Surtees, Robert

2002-07-01

Childhood dystonia that does not respond to treatment with levodopa (dopa-nonresponsive dystonia, DND) has an unclear pathogenesis and is notoriously difficult to treat. To test the hypothesis that there may be abnormalities in serotonin turnover in DND we measured cerebrospinal fluid (CSF) concentrations of homovanillic (HVA) and 5-hydroxyindoleacetic (HIAA) acids, metabolites of dopamine and serotonin, respectively, in 18 children with dystonia not responsive to levodopa. These were combined with a reference population of 85 children with neurologic or metabolic disease known not to affect dopamine or serotonin metabolism. Because of the known natural age-related decrement in HVA and HIAA concentrations, the results were analyzed using multiple regression using age and DND as predictors of CSF HIAA and HVA concentrations. DND was a highly significant predictor of CSF HIAA concentration (p model, the geometric mean ratio of CSF HIAA in DND compared with the reference range was 0.53 whereas that for CSF HVA was 0.95. We also analyzed CSF HIAA/HVA ratios. After fitting a regression model, we found no dependence on age, and the mean of CSF HIAA/HVA in DND was 0.28 whereas that for the reference range was 0.49 (p < 0.001). We conclude that a significant number of children with DND have reduced CNS serotonin turnover. Treatment with drugs that increase serotonin concentration in the synaptic cleft should be considered in this group of patients.

A new treatment for focal dystonias: incobotulinumtoxinA (Xeomin®, a botulinum neurotoxin type A free from complexing proteins

Directory of Open Access Journals (Sweden)

Jimenez-Shahed J

2011-12-01

Full Text Available Joohi Jimenez-ShahedDepartment of Neurology, Baylor College of Medicine, Houston, TX, USAAbstract: Dystonia is a movement disorder of uncertain pathogenesis that is characterized by involuntary and inappropriate muscle contractions which cause sustained abnormal postures and movements of multiple or single (focal body regions. The most common focal dystonias are cervical dystonia (CD and blepharospasm (BSP. The first-line recommended treatment for CD and BSP is injection with botulinum toxin (BoNT, of which two serotypes are available: BoNT type A (BoNT/A and BoNT type B (BoNT/B. Conventional BoNT formulations include inactive complexing proteins, which may increase the risk for antigenicity, possibly leading to treatment failure. IncobotulinumtoxinA (Xeomin®; Merz Pharmaceuticals GmbH, Frankfurt, Germany is a BoNT/A agent that has been recently Food and Drug Administration-approved for the treatment of adults with CD and adults with BSP previously treated with onabotulinumtoxinA (Botox®; Allergen, Inc, Irvine, CA – a conventional BoNT/A. IncobotulinumtoxinA is the only BoNT product that is free of complexing proteins. The necessity of complexing proteins for the effectiveness of botulinum toxin treatment has been challenged by preclinical and clinical studies with incobotulinumtoxinA. These studies have also suggested that incobotulinumtoxinA is associated with a lower risk for stimulating antibody formation than onabotulinumtoxinA. In phase 3 noninferiority trials, incobotulinumtoxinA demonstrated significant improvements in CD and BSP symptoms in both primary and secondary measures, compared with baseline, and met criteria for noninferiority versus onabotulinumtoxinA. In placebo-controlled trials, incobotulinumtoxinA also significantly improved the symptoms of CD and BSP, with robust outcomes in both primary and secondary measures. The use of incobotulinumtoxinA has been well tolerated in all trials, with an adverse event profile similar

Sensory tricks and brain excitability in cervical dystonia: a transcranial magnetic stimulation study.

Science.gov (United States)

Amadio, Stefano; Houdayer, Elise; Bianchi, Francesca; Tesfaghebriel Tekle, Habtom; Urban, Ivan Pietro; Butera, Calogera; Guerriero, Roberta; Cursi, Marco; Leocani, Letizia; Comi, Giancarlo; Del Carro, Ubaldo

2014-08-01

Sensory tricks such as touching the face with fingertips often improve cervical dystonia [CD]. This study is to determine whether sensory tricks modulate motor cortex excitability, assessed by paired-pulse transcranial magnetic stimulation [p-pTMS]. Eight patients with rotational CD underwent p-pTMS, at rest and when the sensory trick was applied. To test intracortical inhibition [ICI] and facilitation [ICF], the amplitude ratio between conditioned and unconditioned cortical motor evoked potentials was measured at several interstimulus intervals (ISI 1, 3, 15, and 20 ms) and compared with controls mimicking patients' sensory tricks. At rest, a significant ICF enhancement was found at ISIs 15 through 20 in patients compared with controls, whereas no significant ICI changes were observed. Sensory tricks significantly reduced the abnormal ICF in patients and did not induce any change in controls. In our CD patients, sensory tricks seem to improve dystonia through an inhibitory effect on motor cortex excitability. © 2014 International Parkinson and Movement Disorder Society.

The Escherichia coli chromosome is organized with the left and right chromosome arms in separate cell halves

DEFF Research Database (Denmark)

Nielsen, Henrik Jørck; Ottesen, Jesper R.; Youngren, Brenda

2006-01-01

in one half of the cell and markers on the right arm of the chromosome lie in the opposite half. This is achieved by reorganizing the chromosome arms of the two nucleoids in pre-division cells relative to the cell quarters. The spatial reorganization of the chromosome arms ensures that the two...

Functional Aspects of Gait in Essential Tremor: A Comparison with Age-Matched Parkinson's Disease Cases, Dystonia Cases, and Controls.

Science.gov (United States)

Louis, Elan D; Rao, Ashwini K

2015-01-01

An understanding of the functional aspects of gait and balance has wide ramifications. Individuals with balance disorders often restrict physical activity, travel, and social commitments to avoid falling, and loss of balance confidence, itself, is a source of disability. We studied the functional aspects of gait in patients with essential tremor (ET), placing their findings within the context of two other neurological disorders (Parkinson's disease [PD] and dystonia) and comparing them with age-matched controls. We administered the six-item Activities of Balance Confidence (ABC-6) Scale and collected data on number of falls and near-falls, and use of walking aids in 422 participants (126 ET, 77 PD, 46 dystonia, 173 controls). Balance confidence was lowest in PD, intermediate in ET, and relatively preserved in dystonia compared with controls. This ordering reoccurred for each of the six ABC-6 items. The number of near-falls and falls followed a similar ordering. Use of canes, walkers, and wheelchairs was elevated in ET and even greater in PD. Several measures of balance confidence (ABC-6 items 1, 4, 5, and 6) were lower in torticollis cases than in those with blepharospasm, although the two groups did not differ with respect to falls or use of walking aids. Lower balance confidence, increased falls, and greater need for walking aids are variably features of a range of movement disorder patients compared to age-matched controls. While most marked among PD patients, these issues affected ET patients as well and, to a small degree, some patients with dystonia.

The inter-arm diastolic blood pressure difference induced by one arm ischemia: a new approach to assess vascular endothelia function.

Science.gov (United States)

Hu, Weitong; Li, Juxiang; Su, Hai; Wang, Jiwei; Xu, Jinsong; Liu, Yanna; Huang, Ming; Cheng, Xiaoshu

2014-01-01

To evaluate whether inter-arm diastolic blood pressure difference (DBPl-r) induced by one arm ischemia correlates with flow-mediated dilatation (FMD). Bilateral arm BPs were simultaneously measured with two automatic devices and right brachial artery diameter (D) was measured by ultrasound technique in 108 subjects (56 hypertensives and 52 normotensives). Following baseline diameter (D0) and BP measurement, right brachial artery was occluded for 5 minutes. The diameter was measured at 1, 1.5 and 2 min, and bilateral BPs measured at 3, 4 and 5 min after occlusion release. Their averages were recorded as post-D and post-BP, respectively. The difference between post-D and D0 (ΔD) was calculated as the percentage increase of artery diameter (ΔD/D0). The BP difference between left and right arms was calculated as BPl-r, and the difference of post- BPl-r and baseline BPl-r was recorded as the net change of BPl-r (ΔBPl-r). At baseline, bilateral SBPs and DBPs were similar. Right arm ischemia induced significant DBP decline only in the right arm (68.8±12.7 vs 72.6±12.0 mmHg, Parm DBP difference induced by one arm ischemia may be a potential index for clinical evaluation of vascular endothelial function.

Prevalence, predictors, and perceived effectiveness of complementary, alternative and integrative medicine in adult-onset primary dystonia.

Science.gov (United States)

Fleming, Brandy M; Schwab, Emiko L; Nouer, Simonne S; Wan, Jim Y; LeDoux, Mark S

2012-09-01

Complementary and Alternative Medicine (CAM) use is on the rise in both the US and Europe, despite questions about its safety and effectiveness, and lack of national standards. We aimed to determine the prevalence and predictors of CAM and integrative medicine use (CAM-I) and perceived effectiveness compared to the standard treatment of botulinum toxin injections in patients with adult-onset primary dystonia. This was a retrospective questionnaire study of 389 dystonia patients examining the effects age, gender, education level and number of affected anatomical regions on botulinum toxin and CAM-I use and their perceived effectiveness. 53% (208) of patients reported CAM-I use, while 90% (349) used the standard treatment (botulinum toxin), and 48% used both. Education was the only significant predictor of CAM-I use - individuals with bachelor's degrees were more likely to try CAM-I whereas those with high school diplomas were less likely. The mean effectiveness rate for botulinum toxin injections (59%) significantly exceeded that for CAM-I (28%, p effectiveness and expense of CAM-I treatments for dystonia and other neurological disorders given that CAM-I use is steadily increasing, there is great variability in what is classified as CAM-I, and the effectiveness of some modalities may be significantly less than conventional medical treatments. Copyright © 2012 Elsevier Ltd. All rights reserved.

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.

Science.gov (United States)

Yokoi, Fumiaki; Dang, Mai T; Zhou, Tong; Li, Yuqing

2012-02-15

DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ε-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT1 generalized torsion dystonia; however, the relationship between the abnormal nuclear envelopes and motor symptoms are not clear. Furthermore, it is not known whether abnormal nuclear envelope exists in non-DYT1 dystonia. In the present study, abnormal nuclear envelopes in the striatal medium spiny neurons (MSNs) were found in Sgce KO mice. To analyze whether the loss of ε-sarcoglycan in the striatum alone causes abnormal nuclear envelopes, motor deficits or myoclonus, we produced paternally inherited striatum-specific Sgce conditional KO (Sgce sKO) mice and analyzed their phenotypes. Sgce sKO mice exhibited motor deficits in both beam-walking and accelerated rotarod tests, while they did not exhibit abnormal nuclear envelopes, alteration in locomotion, or myoclonus. The results suggest that the loss of ε-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus. Development of therapies targeting the striatum to compensate for the loss of ε-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients.

Hearts of dystonia musculorum mice display normal morphological and histological features but show signs of cardiac stress.

Directory of Open Access Journals (Sweden)

Justin G Boyer

2010-03-01

Full Text Available Dystonin is a giant cytoskeletal protein belonging to the plakin protein family and is believed to crosslink the major filament systems in contractile cells. Previous work has demonstrated skeletal muscle defects in dystonin-deficient dystonia musculorum (dt mice. In this study, we show that the dystonin muscle isoform is localized at the Z-disc, the H zone, the sarcolemma and intercalated discs in cardiac tissue. Based on this localization pattern, we tested whether dystonin-deficiency leads to structural defects in cardiac muscle. Desmin intermediate filament, microfilament, and microtubule subcellular organization appeared normal in dt hearts. Nevertheless, increased transcript levels of atrial natriuretic factor (ANF, 66% beta-myosin heavy chain (beta-MHC, 95% and decreased levels of sarcoplasmic reticulum calcium pump isoform 2A (SERCA2a, 26%, all signs of cardiac muscle stress, were noted in dt hearts. Hearts from two-week old dt mice were assessed for the presence of morphological and histological alterations. Heart to body weight ratios as well as left ventricular wall thickness and left chamber volume measurements were similar between dt and wild-type control mice. Hearts from dt mice also displayed no signs of fibrosis or calcification. Taken together, our data provide new insights into the intricate structure of the sarcomere by situating dystonin in cardiac muscle fibers and suggest that dystonin does not significantly influence the structural organization of cardiac muscle fibers during early postnatal development.

Loss of inhibition in sensorimotor networks in focal hand dystonia

Directory of Open Access Journals (Sweden)

Cecile Gallea

2018-01-01

Interpretation: Impairments of GABAergic neurotransmission in the cerebellum and the sensorimotor cortical areas could explain different aspects of loss of inhibitory control in FHD, the former being involved in maladaptive plasticity, the latter in surround inhibition. Reorganization of the inferior prefrontal cortices, part of the associative network, might be compensatory for the loss of inhibitory control in sensorimotor circuits. These findings suggest that cerebellar and cerebral GABAergic abnormalities could play a role in the functional imbalance of striato-cerebello-cortical loops in dystonia.

Ataxia with Parkinsonism and dystonia after intentional inhalation of liquefied petroleum gas

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Godani M

2015-05-01

Full Text Available Massimiliano Godani,1 Francesca Canavese,1 Sonia Migliorini,2 Massimo Del Sette1 1Neurology Unit, 2Department of Neuroradiology, Sant’Andrea Hospital, La Spezia, Italy Abstract: The practice of inhaling liquefied petroleum gas (LPG to commit suicide is uncommon and almost exclusively a prerogative of the prison population. Numerous cases of sudden deaths caused by intentional propane and/or butane inhalation have been described, but these cases survived and a description of the consequences is very rare. We describe a prisoner who survived after voluntary inhalation of LPG, and who developed ataxia, Parkinsonism, and dystonia. Brain MRI showed bilateral hyperintensity in the basal ganglia and in the cerebellar hemispheres. The clinical evolution and the MRI abnormalities are similar to those described in cases of poisoning by CO where the mechanism of brain injury is related to histotoxic hypoxia. We believe that LPG, considered until now a mixture of gas with low neurotoxic power, may have caused direct toxic damage to the brain, mediated by a mechanism of hypoxia, such as in CO intoxication. Keywords: ataxia, Parkinsonism, dystonia, liquefied petroleum gas

[sup 123]I-IBZM SPECT: Reconstruction methodology and results in Parkinsonism and dystonia

Energy Technology Data Exchange (ETDEWEB)

Berding, G [Abt. fuer Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany); Gratz, K F [Abt. fuer Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany); Kolbe, H [Neurologische Klinik mit Klinischer Neurophysiologie, Medizinische Hochschule Hannover (Germany); Meyer, G J [Abt. fuer Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany); Dengler, R [Neurologische Klinik mit Klinischer Neurophysiologie, Medizinische Hochschule Hannover (Germany); Knoop, B O [Abt. fuer Nuklearmesstechnik und Strahlenschutz, Medizinische Hochschule Hannover (Germany); Hundeshagen, H [Abt. fuer Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany)

1994-10-01

In 58 patients with Parkinsonism or dystonia striatal dopamine D[sub 2] receptors were investigated using [sup 123]I-iodobenzamide ([sup 123]I-IBZM) single-photon emission computed tomography (SPECT). The influence of SPECT reconstruction methodology on semiquantification and the clinical value of [sup 123]I-IBZM SPECT were evaluated. Delineation of the striatal uptake and striatum/frontal cortex (ST/FC) ratios were improved by the use of compensation procedures for scatter and attenuation as well as the choice of an adequate filter. Satisfactory results were achieved using a Metz prefilter with a comparatively high order number (i.e. high cut-off and low suppression of higher frequencies via roll-off). Regarding clinical diagnoses it was not possible to differentiate between advanced idiopathic Parkinson's disease (IP) and Parkinsonism of other aetiology (OP) on the basis of [sup 123]I-IBZM SPECT. But patients with IP and favourable response to L-Dopa showed significantly higher ST/FC ratios than those with fluctuating response. In patients with dystonia ST/FC ratios were significantly higher compared to patients with IP or OP. (orig.)

Tyrosine hydroxylase immunoreactivity and [3H]WIN 35,428 binding to the dopamine transporter in a hamster model of idiopathic paroxysmal dystonia

International Nuclear Information System (INIS)

Nobrega, J.N.; Gernert, M.; Loescher, W.; Raymond, R.; Belej, T.; Richter, A.

1999-01-01

Recent pharmacological studies and receptor analyses have suggested that dopamine neurotransmission is enhanced in mutant dystonic hamsters (dt sz ), a model of idiopathic paroxysmal dystonia which displays attacks of generalized dystonia in response to mild stress. In order to further characterize the nature of dopamine alterations, the present study investigated possible changes in the number of dopaminergic neurons, as defined by tyrosine hydroxylase immunohistochemistry, as well as binding to the dopamine transporter labelled with [ 3 H]WIN 35,428 in dystonic hamsters. No differences in the number of tyrosine hydroxylase-immunoreactive neurons were found within the substantia nigra and ventral tegmental area of mutant hamsters compared to non-dystonic control hamsters. Similarly, under basal conditions, i.e. in the absence of a dystonic episode, no significant changes in [ 3 H]WIN 35,428 binding were detected in dystonic brains. However, in animals killed during the expression of severe dystonia, significant decreases in dopamine transporter binding became evident in the nucleus accumbens and ventral tegmental area in comparison to controls exposed to the same external stimulation. Since stimulation tended to increase [ 3 H]WIN 35,428 binding in control brains, the observed decrease in the ventral tegmental area appeared to be due primarily to the fact that binding was increased less in dystonic brains than in similarly stimulated control animals.This finding could reflect a diminished ability of the dopamine transporter to undergo adaptive changes in response to external stressful stimulation in mutant hamsters. The selective dopamine uptake inhibitor GBR 12909 (20 mg/kg) aggravated dystonia in mutant hamsters, further suggesting that acute alterations in dopamine transporter function during stimulation may be an important component of dystonia in this model. (Copyright (c) 1999 Elsevier Science B.V., Amsterdam. All rights reserved.)

Focal Dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

OpenAIRE

David ePerruchoud; Micah M Murray; Micah M Murray; Jeremie eLefebvre; Silvio eIonta

2014-01-01

Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, and the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characteriz...

Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

OpenAIRE

Perruchoud David; Murray Micah; Lefebvre Jeremie; Ionta Silvio

2014-01-01

Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized b...

Long-term effect of botulinum toxin on impairment and functional health in cervical dystonia

NARCIS (Netherlands)

Brans, J. W.; Lindeboom, R.; Aramideh, M.; Speelman, J. D.

1998-01-01

We investigated the long-term effect of botulinum toxin type A (BTA) on impairment as well as functional health in terms of disability, handicap, and quality of life in 64 patients with cervical dystonia. These patients, who first participated in a double-blind trial, were followed for another 12

History of the 'geste antagoniste' sign in cervical dystonia.

Science.gov (United States)

Poisson, A; Krack, P; Thobois, S; Loiraud, C; Serra, G; Vial, C; Broussolle, E

2012-08-01

The geste antagoniste is a voluntary maneuver that temporarily reduces the severity of dystonic posture or movements. It is a classical feature of focal and particularly cervical dystonia. However, the precise historical aspects of geste antagoniste still remain obscure. The goals of this review were (1) to clarify the origin of the geste antagoniste sign; (2) to identify the factors that led to its diffusion in the international literature; (3) to follow the evolution of that term across the twentieth century. We used medical and neurological French, German and English literature of the late nineteenth and early twentieth centuries, and the PubMed database by entering the terms geste antagoniste, antagonistic gesture and sensory trick. The geste antagoniste sign is a legacy of the Paris Neurological School of the end of the nineteenth century. The term was introduced by Meige and Feindel in their 1902 book on tics, written in the vein of their master, Brissaud, who first described this sign in 1893. The almost immediate translations of this book by Giese into German and Kinnier Wilson into English contributed to the rapid spreading of the term geste antagoniste, which is still in use worldwide today. The term antagonistic gesture is the translation proposed by Kinnier Wilson, which also led to the use of the term geste antagonistique. The geste antagoniste sign has long been considered a solid argument for the psychogenic origins of dystonia until the 1980s when Marsden made strong arguments for its organic nature.

Neuropsychological profile of a Filipino gentleman with X-linked dystonia-parkinsonism: a case report of Lubag disease.

Science.gov (United States)

Howe, Laura L S; Kellison, Ida L; Fernandez, Hubert H; Okun, Michael S; Bowers, Dawn

2009-01-01

X-Linked Dystonia-Parkinsonism (XDP or "Lubag") is a progressive neurodegenerative disorder unique to the Island of Panay in the Philippines. Imaging and autopsy studies have suggested involvement of the caudate and putamen in late stages. Because the clinical presentation of patients with XDP resembles that of patients with Parkinson disease or dystonia, it is reasonable to predict the neuropsychological profile might be similar; however, the neuropsychological profile of a XDP patient has not previously been published. We present the neuropsychological findings of a 67-year-old gentleman with a 10-year history of XDP who presented with parkinsonian and dystonic symptoms. He was evaluated for suitability for deep brain stimulation surgery. Neuropsychological findings demonstrated diffuse impairment involving memory, visuospatial, language, and executive functioning.

Deep brain stimulation effects in dystonia: time course of electrophysiological changes in early treatment.

Science.gov (United States)

Ruge, Diane; Tisch, Stephen; Hariz, Marwan I; Zrinzo, Ludvic; Bhatia, Kailash P; Quinn, Niall P; Jahanshahi, Marjan; Limousin, Patricia; Rothwell, John C

2011-08-15

Deep brain stimulation to the internal globus pallidus is an effective treatment for primary dystonia. The optimal clinical effect often occurs only weeks to months after starting stimulation. To better understand the underlying electrophysiological changes in this period, we assessed longitudinally 2 pathophysiological markers of dystonia in patients prior to and in the early treatment period (1, 3, 6 months) after deep brain stimulation surgery. Transcranial magnetic stimulation was used to track changes in short-latency intracortical inhibition, a measure of excitability of GABA(A) -ergic corticocortical connections and long-term potentiation-like synaptic plasticity (as a response to paired associative stimulation). Deep brain stimulation remained on for the duration of the study. Prior to surgery, inhibition was reduced and plasticity increased in patients compared with healthy controls. Following surgery and commencement of deep brain stimulation, short-latency intracortical inhibition increased toward normal levels over the following months with the same monotonic time course as the patients' clinical benefit. In contrast, synaptic plasticity changed rapidly, following a nonmonotonic time course: it was absent early (1 month) after surgery, and then over the following months increased toward levels observed in healthy individuals. We postulate that before surgery preexisting high levels of plasticity form strong memories of dystonic movement patterns. When deep brain stimulation is turned on, it disrupts abnormal basal ganglia signals, resulting in the absent response to paired associative stimulation at 1 month. Clinical benefit is delayed because engrams of abnormal movement persist and take time to normalize. Our observations suggest that plasticity may be a driver of long-term therapeutic effects of deep brain stimulation in dystonia. Copyright © 2011 Movement Disorder Society.

A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia

DEFF Research Database (Denmark)

Schjerling, Lisbeth; Hjermind, Lena E; Jespersen, Bo

2013-01-01

Object The authors' aim was to compare the subthalamic nucleus (STN) with the globus pallidus internus (GPi) as a stimulation target for deep brain stimulation (DBS) for medically refractory dystonia. Methods In a prospective double-blind crossover study, electrodes were bilaterally implanted in ...

Blood pressure differences between arms and association of dominant hands with blood pressure differences and carotid atherosclerosis.

Science.gov (United States)

Maeda, Shinji

2013-06-01

Guidelines for the management of hypertension recommend that blood pressure (BP) should be measured twice at every visit; it should be measured in both arms at the first visit, and the right arm BP or higher BP should be recorded. Manufacturers of home BP monitors tend to design the device for measurement of left arm BP. The arm preferred for BP measurement differs according to the methods recommended by the society and according to the home BP monitors. The BP difference (ΔBP) is calculated by subtracting left arm BP from right arm BP. Here, we aim to first investigate which hand will give the most accurate reading by a sphygmomanometer in daily medical practice. Second, we wish to assess the association of the dominant hand with absolute BP difference (|ΔBP|) of at least 10 mmHg and with early atherosclerotic markers in a subanalysis. We found that 6.4% of outpatients were left handed, and the percentage of individuals with systolic |ΔBP| (|ΔSBP|) and diastolic |ΔBP| (|ΔDBP|) of at least 10 mmHg was 14.4 and 7.2%, respectively. The dominant hand was not significantly associated with |ΔBP| of at least 10 mmHg or early atherosclerotic markers. This study suggests that BP measured in one arm is substitutable with that of the other arm because of a lack of association of |ΔBP| with the dominant hand. However, BP of both arms should be actively measured in new outpatients with moderate fever, lifestyle-related diseases, vascular events, age 65 years and above, and smoking history, all of which are factors potentially associated with |ΔBP| of at least 10 mmHg, regardless of the dominant hand.

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models

Science.gov (United States)

Yokoi, Fumiaki; Dang, Mai T.; Zhou, Tong; Li, Yuqing

2012-01-01

DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ɛ-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT1 generalized torsion dystonia; however, the relationship between the abnormal nuclear envelopes and motor symptoms are not clear. Furthermore, it is not known whether abnormal nuclear envelope exists in non-DYT1 dystonia. In the present study, abnormal nuclear envelopes in the striatal medium spiny neurons (MSNs) were found in Sgce KO mice. To analyze whether the loss of ɛ-sarcoglycan in the striatum alone causes abnormal nuclear envelopes, motor deficits or myoclonus, we produced paternally inherited striatum-specific Sgce conditional KO (Sgce sKO) mice and analyzed their phenotypes. Sgce sKO mice exhibited motor deficits in both beam-walking and accelerated rotarod tests, while they did not exhibit abnormal nuclear envelopes, alteration in locomotion, or myoclonus. The results suggest that the loss of ɛ-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus. Development of therapies targeting the striatum to compensate for the loss of ɛ-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients. PMID:22080833

Effects of cannabinoid CB(1) receptor agonism and antagonism on SKF81297-induced dyskinesia and haloperidol-induced dystonia in Cebus apella monkeys

DEFF Research Database (Denmark)

Madsen, Morten V; Peacock, Linda P; Werge, Thomas

2011-01-01

81297 (SKF) and acute dystonia induced by the dopamine D(2) receptor antagonist haloperidol in Cebus apella monkeys. The monkeys were sensitised to EPS by prior exposure to D(2) receptor antagonists. SKF (0.3 mg/kg) was administered alone and in combination with the CB(1) agonist CP55,940 (0.......0025-0.01 mg/kg) or the CB(1) antagonist SR141716A (0.25-0.75 mg/kg). Haloperidol (individual doses at 0.01-0.02 mg/kg) was administered alone and in combination with CP55,940 (0.005 or 0.01 mg/kg) or SR141716A (0.5 or 0.75 mg/kg). Subsequently, the monkeys were videotaped, and the recordings were rated...... for oral dyskinesia or dystonia. SKF-induced oral dyskinesia was dose-dependently reduced by CP55,940, with no effect of SR141716A. Haloperidol-induced dystonia was not affected by either CP55,940 or SR141716A....

Tyrosine hydroxylase immunoreactivity and [{sup 3}H]WIN 35,428 binding to the dopamine transporter in a hamster model of idiopathic paroxysmal dystonia

Energy Technology Data Exchange (ETDEWEB)

Nobrega, J.N. [Neuroimaging Research Section, Clarke Institute of Psychiatry, Toronto (Canada); Gernert, M.; Loescher, W. [Department of Pharmacology, Toxicology and Pharmacy, School of Veterinary Medicine, Buenteweg 17, D-30559 Hannover (Germany); Raymond, R.; Belej, T. [Neuroimaging Research Section, Clarke Institute of Psychiatry, Toronto (Canada); Richter, A. [Department of Pharmacology, Toxicology and Pharmacy, School of Veterinary Medicine, Buenteweg 17, D-30559 Hannover (Germany)

1999-08-01

Recent pharmacological studies and receptor analyses have suggested that dopamine neurotransmission is enhanced in mutant dystonic hamsters (dt{sup sz}), a model of idiopathic paroxysmal dystonia which displays attacks of generalized dystonia in response to mild stress. In order to further characterize the nature of dopamine alterations, the present study investigated possible changes in the number of dopaminergic neurons, as defined by tyrosine hydroxylase immunohistochemistry, as well as binding to the dopamine transporter labelled with [{sup 3}H]WIN 35,428 in dystonic hamsters. No differences in the number of tyrosine hydroxylase-immunoreactive neurons were found within the substantia nigra and ventral tegmental area of mutant hamsters compared to non-dystonic control hamsters. Similarly, under basal conditions, i.e. in the absence of a dystonic episode, no significant changes in [{sup 3}H]WIN 35,428 binding were detected in dystonic brains. However, in animals killed during the expression of severe dystonia, significant decreases in dopamine transporter binding became evident in the nucleus accumbens and ventral tegmental area in comparison to controls exposed to the same external stimulation. Since stimulation tended to increase [{sup 3}H]WIN 35,428 binding in control brains, the observed decrease in the ventral tegmental area appeared to be due primarily to the fact that binding was increased less in dystonic brains than in similarly stimulated control animals.This finding could reflect a diminished ability of the dopamine transporter to undergo adaptive changes in response to external stressful stimulation in mutant hamsters. The selective dopamine uptake inhibitor GBR 12909 (20 mg/kg) aggravated dystonia in mutant hamsters, further suggesting that acute alterations in dopamine transporter function during stimulation may be an important component of dystonia in this model. (Copyright (c) 1999 Elsevier Science B.V., Amsterdam. All rights reserved000.

Error-enhancing robot therapy to induce motor control improvement in childhood onset primary dystonia

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Casellato Claudia

2012-07-01

Full Text Available Abstract Background Robot-generated deviating forces during multijoint reaching movements have been applied to investigate motor control and to tune neuromotor adaptation. Can the application of force to limbs improve motor learning? In this framework, the response to altered dynamic environments of children affected by primary dystonia has never been studied. Methods As preliminary pilot study, eleven children with primary dystonia and eleven age-matched healthy control subjects were asked to perform upper limb movements, triangle-reaching (three directions and circle-writing, using a haptic robot interacting with ad-hoc developed task-specific visual interfaces. Three dynamic conditions were provided, null additive external force (A, constant disturbing force (B and deactivation of the additive external force again (C. The path length for each trial was computed, from the recorded position data and interaction events. Results The results show that the disturbing force affects significantly the movement outcomes in healthy but not in dystonic subjects, already compromised in the reference condition: the external alteration uncalibrates the healthy sensorimotor system, while the dystonic one is already strongly uncalibrated. The lack of systematic compensation for perturbation effects during B condition is reflected into the absence of after-effects in C condition, which would be the evidence that CNS generates a prediction of the perturbing forces using an internal model of the environment. The most promising finding is that in dystonic population the altered dynamic exposure seems to induce a subsequent improvement, i.e. a beneficial after-effect in terms of optimal path control, compared with the correspondent reference movement outcome. Conclusions The short-time error-enhancing training in dystonia could represent an effective approach for motor performance improvement, since the exposure to controlled dynamic alterations induces a refining

Clinical comparison of automatic, noninvasive measurements of blood pressure in the forearm and upper arm.

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Schell, Kathleen; Bradley, Elisabeth; Bucher, Linda; Seckel, Maureen; Lyons, Denise; Wakai, Sandra; Bartell, Deborah; Carson, Elizabeth; Chichester, Melanie; Foraker, Teresa; Simpson, Kathleen

2005-05-01

When the upper arm (area from shoulder to elbow) is inaccessible and/or a standard-sized blood pressure cuff does not fit, some healthcare workers use the forearm to measure blood pressure. To compare automatic noninvasive measurements of blood pressure in the upper arm and forearm. A descriptive, correlational comparison study was conducted in the emergency department of a 1071-bed teaching hospital. Subjects were 204 English-speaking patients 6 to 91 years old in medically stable condition who had entered the department on foot or by wheelchair and who had no exclusions to using their left upper extremity. A Welch Allyn Vital Signs 420 series monitor was used to measure blood pressure in the left upper arm and forearm with the subject seated and the upper arm or forearm at heart level. Pearson r correlation coefficients between measurements in the upper arm and forearm were 0.88 for systolic blood pressure and 0.76 for diastolic blood pressure (P upper arm and forearm differed significantly (t = 2.07, P = .04). A Bland-Altman analysis indicated that the distances between the mean values and the limits of agreement for the 2 sites ranged from 15 mm Hg (mean arterial pressure) to 18.4 mm Hg (systolic pressure). Despite strict attention to correct cuff size and placement of the upper arm or forearm at heart level, measurements of blood pressure obtained noninvasively in the arm and forearm of seated patients in stable condition are not interchangeable.

A relationship between bruxism and orofacial-dystonia? A trigeminal electrophysiological approach in a case report of pineal cavernoma.

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Frisardi, Gianni; Iani, Cesare; Sau, Gianfranco; Frisardi, Flavio; Leornadis, Carlo; Lumbau, Aurea; Enrico, Paolo; Sirca, Donatella; Staderini, Enrico Maria; Chessa, Giacomo

2013-10-28

In some clinical cases, bruxism may be correlated to central nervous system hyperexcitability, suggesting that bruxism may represent a subclinical form of dystonia. To examine this hypothesis, we performed an electrophysiological evaluation of the excitability of the trigeminal nervous system in a patient affected by pineal cavernoma with pain symptoms in the orofacial region and pronounced bruxism. Electrophysiological studies included bilateral electrical transcranial stimulation of the trigeminal roots, analysis of the jaw jerk reflex, recovery cycle of masseter inhibitory reflex, and a magnetic resonance imaging study of the brain. The neuromuscular responses of the left- and right-side bilateral trigeminal motor potentials showed a high degree of symmetry in latency (1.92 ms and 1.96 ms, respectively) and amplitude (11 mV and 11.4 mV, respectively), whereas the jaw jerk reflex amplitude of the right and left masseters was 5.1 mV and 8.9 mV, respectively. The test stimulus for the recovery cycle of masseter inhibitory reflex evoked both silent periods at an interstimulus interval of 150 ms. The duration of the second silent period evoked by the test stimulus was 61 ms and 54 ms on the right and left masseters, respectively, which was greater than that evoked by the conditioning stimulus (39 ms and 35 ms, respectively). We found evidence of activation and peripheral sensitization of the nociceptive fibers, the primary and secondary nociceptive neurons in the central nervous system, and the endogenous pain control systems (including both the inhibitory and facilitatory processes), in the tested subject. These data suggest that bruxism and central orofacial pain can coexist, but are two independent symptoms, which may explain why numerous experimental and clinical studies fail to reach unequivocal conclusions.

Biochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism.

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Tronnier, V M; Domingo, A; Moll, C K; Rasche, D; Mohr, C; Rosales, R; Capetian, P; Jamora, R D; Lee, L V; Münchau, A; Diesta, C C; Tadic, V; Klein, C; Brüggemann, N; Moser, A

2015-08-01

Invasive techniques such as in-vivo microdialysis provide the opportunity to directly assess neurotransmitter levels in subcortical brain areas. Five male Filipino patients (mean age 42.4, range 34-52 years) with severe X-linked dystonia-parkinsonism underwent bilateral implantation of deep brain leads into the internal part of the globus pallidus (GPi). Intraoperative microdialysis and measurement of gamma aminobutyric acid and glutamate was performed in the GPi in three patients and globus pallidus externus (GPe) in two patients at baseline for 25/30 min and during 25/30 min of high-frequency GPi stimulation. While the gamma-aminobutyric acid concentration increased in the GPi during high frequency stimulation (231 ± 102% in comparison to baseline values), a decrease was observed in the GPe (22 ± 10%). Extracellular glutamate levels largely remained unchanged. Pallidal microdialysis is a promising intraoperative monitoring tool to better understand pathophysiological implications in movement disorders and therapeutic mechanisms of high frequency stimulation. The increased inhibitory tone of GPi neurons and the subsequent thalamic inhibition could be one of the key mechanisms of GPi deep brain stimulation in dystonia. Such a mechanism may explain how competing (dystonic) movements can be suppressed in GPi/thalamic circuits in favour of desired motor programs. Copyright © 2015 Elsevier Ltd. All rights reserved.

Constraints on arm selection processes when reaching: degrees of freedom and joint amplitudes interact to influence limb selection.

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Kim, Wondae; Buchanan, John; Gabbard, Carl

2011-01-01

With an interest in identifying the variables that constrain arm choice when reaching, the authors had 11 right-handed participants perform free-choice and assigned-limb reaches at 9 object positions. The right arm was freely selected 100% of the time when reaching to positions at 30° and 40° into right hemispace. However, the left arm was freely selected to reach to positions at -30° and -40° in left hemispace 85% of the time. A comparison between free- and assigned-limb reaching kinematics revealed that free limb selection when reaching to the farthest positions was constrained by joint amplitude requirements and the time devoted to limb deceleration. Differences between free- and assigned-arm reaches were not evident when reaching to the midline and positions of ±10°, even though the right arm was freely selected most often for these positions. Different factors contribute to limb selection as a function of distance into a specific hemispace.

The intermuscular 3-7 Hz drive is not affected by distal proprioceptive input in myoclonus-dystonia

NARCIS (Netherlands)

van der Meer, J. N.; Schouten, A. C.; Bour, L. J.; de Vlugt, E.; van Rootselaar, A. F.; van der Helm, F. C. T.; Tijssen, M. A. J.

In dystonia, both sensory malfunctioning and an abnormal intermuscular low-frequency drive of 3-7 Hz have been found, although cause and effect are unknown. It is hypothesized that sensory processing is primarily disturbed and induces this drive. Accordingly, experimenter-controlled sensory input

The intermuscular 3-7 Hz drive is not affected by distal proprioceptive input in myoclonus-dystonia

NARCIS (Netherlands)

van der Meer, J.N.; Schouten, A.C.; Bour, L.J.; de Vlugt, E.; van Rootselaar, A.F.; van der Helm, F.C.T.; Tijssen, M.A.J.

2010-01-01

In dystonia, both sensory malfunctioning and an abnormal intermuscular low-frequency drive of 3-7 Hz have been found, although cause and effect are unknown. It is hypothesized that sensory processing is primarily disturbed and induces this drive. Accordingly, experimenter-controlled sensory input

The Colombian Left: A Paradoxical Past; A Promising Future?

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Charles Bergquist

2017-07-01

Full Text Available The essay explores the paradoxical history of the left in Colombia: how and why one of the weakest lefts in Latin America brought about the strongest and most lasting Marxist insurrection in the hemisphere in the decades following the Cuban Revolution. The article argues that the terms of this paradox are related, that the historic weakness of the left partly explains the force and longevity of revolutionary guerrillas, and that said paradox helps clarify not only the failure of several attempts to achieve a negotiated settlement of the armed conflict, but also the negative vote in the October 2016 plebiscite. Finally, it envisions a more promising future for the country’s left, provided that a lasting peace is consolidated.

A Novel Animal Model for Investigating the Neural Basis of Focal Dystonia

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2016-09-01

plasticity of the human motor cortex in writer’s cramp. Brain. 2003;126:2586–2596. 46. Quartarone A, Morgante F, Sant’angelo A, Rizzo V, Bagnato S...cerebellar output in the genetically dystonic rat . Adv Neurol. 1998;78:63–78. 61. LeDoux MS, Lorden JF, Ervin JM. Cerebellectomy eliminates the motor ...experiments and preliminary recordings from the superior colliculus. 15. SUBJECT TERMS Dystonia, benign essential blepharospasm, dry eye, motor

An Unusual Cause of Dementia: Essential Diagnostic Elements of Corticobasal Degeneration—A Case Report and Review of the Literature

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F. Mastrolilli

2011-01-01

Full Text Available Corticobasal degeneration (CBD is an uncommon, sporadic, neurodegenerative disorder of mid- to late-adult life. We describe a further example of the pathologic heterogeneity of this condition. A 71-year-old woman initially presented dysarthria, clumsiness, progressive asymmetric bradykinesia, and rigidity in left arm. Rigidity gradually involved ipsilateral leg; postural instability with falls, blepharospasm, and dysphagia subsequently developed. She has been previously diagnosed as unresponsive Parkinson's Disease. At our clinical examination, she presented left upper-arm-fixed-dystonia, spasticity in left lower limb and pyramidal signs (Babinski and Hoffmann. Brain MRI showed asymmetric cortical atrophy in the right frontotemporal cortex. Neuropsychological examination showed an impairment in visuospatial functioning, frontal-executive dysfunction, and hemineglect. This case demonstrates that association of asymmetrical focal cortical and subcortical features remains the clinical hallmark of this condition. There are no absolute markers for the clinical diagnosis that is complicated by the variability of presentation involving also cognitive symptoms that are reviewed in the paper. Despite the difficulty of diagnosing CBD, somatosensory evoked potentials, motor evoked potentials, long latency reflexes, and correlations between results on electroencephalography (EEG and electromyography (EMG provide further support for a CBD diagnosis. These techniques are also used to identify neurophysiological correlates of the neurological signs of the disease.

Trying to Move Your Unseen Static Arm Modulates Visually-Evoked Kinesthetic Illusion

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Metral, Morgane; Blettery, Baptiste; Bresciani, Jean-Pierre; Luyat, Marion; Guerraz, Michel

2013-01-01

Although kinesthesia is known to largely depend on afferent inflow, recent data suggest that central signals originating from volitional control (efferent outflow) could also be involved and interact with the former to build up a coherent percept. Evidence derives from both clinical and experimental observations where vision, which is of primary importance in kinesthesia, was systematically precluded. The purpose of the present experiment was to assess the role of volitional effort in kinesthesia when visual information is available. Participants (n=20) produced isometric contraction (10-20% of maximal voluntary force) of their right arm while their left arm, which image was reflected in a mirror, either was passively moved into flexion/extension by a motorized manipulandum, or remained static. The contraction of the right arm was either congruent with or opposite to the passive displacements of the left arm. Results revealed that in most trials, kinesthetic illusions were visually driven, and their occurrence and intensity were modulated by whether volitional effort was congruent or not with visual signals. These results confirm the impact of volitional effort in kinesthesia and demonstrate for the first time that these signals interact with visual afferents to offer a coherent and unified percept. PMID:24348909

Trying to move your unseen static arm modulates visually-evoked kinesthetic illusion.

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Morgane Metral

Full Text Available Although kinesthesia is known to largely depend on afferent inflow, recent data suggest that central signals originating from volitional control (efferent outflow could also be involved and interact with the former to build up a coherent percept. Evidence derives from both clinical and experimental observations where vision, which is of primary importance in kinesthesia, was systematically precluded. The purpose of the present experiment was to assess the role of volitional effort in kinesthesia when visual information is available. Participants (n=20 produced isometric contraction (10-20% of maximal voluntary force of their right arm while their left arm, which image was reflected in a mirror, either was passively moved into flexion/extension by a motorized manipulandum, or remained static. The contraction of the right arm was either congruent with or opposite to the passive displacements of the left arm. Results revealed that in most trials, kinesthetic illusions were visually driven, and their occurrence and intensity were modulated by whether volitional effort was congruent or not with visual signals. These results confirm the impact of volitional effort in kinesthesia and demonstrate for the first time that these signals interact with visual afferents to offer a coherent and unified percept.

Movement Structure in Young and Elderly Adults during Goal-Directed Movements of the Left and Right Arm

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Poston, Brach; Van Gemmert, Arend W. A.; Barduson, Beth; Stelmach, George E.

2009-01-01

Elderly adults often exhibit performance deficits during goal-directed movements of the dominant arm compared with young adults. Recent studies involving hemispheric lateralization have provided evidence that the dominant and non-dominant hemisphere-arm systems are specialized for controlling different movement parameters and that hemispheric…

Laser-assisted lipolysis for arm contouring in Teimourian grades I and II: a prospective study of 45 patients.

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Leclère, Franck Marie; Alcolea, Justo M; Vogt, Peter; Moreno-Moraga, Javier; Mordon, Serge; Casoli, Vincent; Trelles, Mario A

2015-04-01

Upper arm deformities secondary to weight loss or senile elastosis have led to an increased demand for aesthetic contouring procedures. We conducted this study to objectively assess if, in Teimourian low-grade upper arm remodelling, one session of laser-assisted lypolisis (LAL) could result in full patient satisfaction. Between 2011 and 2013, 45 patients were treated for unsightly fat arm Teimourian grade I (15 patients), grade IIa (15 patients) and grade IIb (15 patients) with one session of LAL. The laser used in this study was a 1470-nm diode laser (Alma Lasers, Cesarea, Israel) with the following parameters: continuous mode, 15 W power and transmission through a 600-μm optical fibre. Previous mathematical modelling suggested that 0.1 kJ was required in order to destroy 1 ml of fat. Treatment parameters and adverse effects were recorded.The arm circumference and skin pinch measurements were assessed pre and postoperatively. Patients were asked to file a satisfaction questionnaire. Pain during the anaesthesia and discomfort after the procedure were minimal. Complications included prolonged oedema in 11 patients. The average arm circumference decreased by 4.9 ± 0.4 cm in the right arm (p < 0.01) and 4.7 ± 0.5 cm in the left arm (p < 0.01) in grade I patients, 5.5 ± 0.6 cm in the right arm (p < 0.01) and 5.2 ± 0.5 cm in the left arm (p < 0.01) in grade IIa patients and 5.4 ± 0.5 cm in the right arm (p < 0.01) and 5.3 ± 0.5 cm in the left arm (p < 0.01) in grade IIB patients. The skin tightening effect was confirmed by the reduction of the skin calliper measurements in all three groups. Overall mean opinion of treatment was high for both patients and investigators. Of the 45 patients, all but one would recommend this treatment. A single session of LAL in upper arm remodelling for Teimourian grades I to IIb is a safe and reproducible technique. The procedure allows reduction in the amount of adipose deposits

Inter-arm blood pressure differences in young, healthy patients.

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Grossman, Alon; Prokupetz, Alex; Gordon, Barak; Morag-Koren, Nira; Grossman, Ehud

2013-08-01

The prevalence and magnitude of inter-arm BP difference (IAD) in young healthy patients is not well characterized. Flight academy applicants and designated aviators undergo annual evaluation that includes blood pressure (BP) measurement on both arms. All BP measurements performed from January 1, 2012, to April 30, 2012, were recorded and IAD was calculated. Results were compared between patients in whom BP was initially measured in the right arm (group 1), those in whom BP was initially measured in the left arm (group 2), and those in whom the arm in which BP was initially measured was not recorded (group 3). A total of 877 healthy patients had BP measured during the study period. In the entire group, mean systolic BP was the same in both arms. Absolute IAD was 5.6±5.5 mm Hg for systolic and 4.7±4.5 mm Hg for diastolic BP. IAD >10 mm Hg was recorded in 111 (12.6%) and 77 (8.8%) patients for systolic and diastolic BP, respectively. IAD was the same in the 3 groups and was unrelated to age, body mass index, and heart rate, but was related to systolic BP. IAD is common in young healthy patients, is not dependent on which arm was measured first, and unrelated to age, body mass index, and heart rate. © 2013 Wiley Periodicals, Inc.

Altered Sensory Feedbacks in Pianist's Dystonia: the altered auditory feedback paradigm and the glove effect

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Felicia Pei-Hsin Cheng

2013-12-01

Full Text Available Background: This study investigates the effect of altered auditory feedback (AAF in musician's dystonia (MD and discusses whether altered auditory feedback can be considered as a sensory trick in MD. Furthermore, the effect of AAF is compared with altered tactile feedback, which can serve as a sensory trick in several other forms of focal dystonia. Methods: The method is based on scale analysis (Jabusch et al. 2004. Experiment 1 employs synchronization paradigm: 12 MD patients and 25 healthy pianists had to repeatedly play C-major scales in synchrony with a metronome on a MIDI-piano with 3 auditory feedback conditions: 1. normal feedback; 2. no feedback; 3. constant delayed feedback. Experiment 2 employs synchronization-continuation paradigm: 12 MD patients and 12 healthy pianists had to repeatedly play C-major scales in two phases: first in synchrony with a metronome, secondly continue the established tempo without the metronome. There are 4 experimental conditions, among them 3 are the same altered auditory feedback as in Experiment 1 and 1 is related to altered tactile sensory input. The coefficient of variation of inter-onset intervals of the key depressions was calculated to evaluate fine motor control. Results: In both experiments, the healthy controls and the patients behaved very similarly. There is no difference in the regularity of playing between the two groups under any condition, and neither did AAF nor did altered tactile feedback have a beneficial effect on patients’ fine motor control. Conclusions: The results of the two experiments suggest that in the context of our experimental designs, AAF and altered tactile feedback play a minor role in motor coordination in patients with musicians' dystonia. We propose that altered auditory and tactile feedback do not serve as effective sensory tricks and may not temporarily reduce the symptoms of patients suffering from MD in this experimental context.

Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.

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de Kovel, Carolien G F; Lisgo, Steven; Karlebach, Guy; Ju, Jia; Cheng, Gang; Fisher, Simon E; Francks, Clyde

2017-08-01

Left-right asymmetry is a fundamental organizing feature of the human brain, and neuropsychiatric disorders such as schizophrenia sometimes involve alterations of brain asymmetry. As early as 8 weeks postconception, the majority of human fetuses move their right arms more than their left arms, but because nerve fiber tracts are still descending from the forebrain at this stage, spinal-muscular asymmetries are likely to play an important developmental role. We used RNA sequencing to measure gene expression levels in the left and right spinal cords, and the left and right hindbrains, of 18 postmortem human embryos aged 4 to 8 weeks postconception. Genes showing embryonic lateralization were tested for an enrichment of signals in genome-wide association data for schizophrenia. The left side of the embryonic spinal cord was found to mature faster than the right side. Both sides transitioned from transcriptional profiles associated with cell division and proliferation at earlier stages to neuronal differentiation and function at later stages, but the two sides were not in synchrony (p = 2.2 E-161). The hindbrain showed a left-right mirrored pattern compared with the spinal cord, consistent with the well-known crossing over of function between these two structures. Genes that showed lateralization in the embryonic spinal cord were enriched for association signals with schizophrenia (p = 4.3 E-05). These are the earliest stage left-right differences of human neural development ever reported. Disruption of the lateralized developmental program may play a role in the genetic susceptibility to schizophrenia. Copyright © 2017 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Identifying Molecular Regulators of Neuronal Functions Affected in the Movement Disorder Dystonia

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2015-08-01

trained by the PI for writing, revising and reviewing manuscripts in one-on-one sessions. He successfully presented a poster in an international...Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: Role of endogenous acetylcholine. Brain 2009;132:2336–2349...Page 20 of 24 Right before usage , add 20 mg of trypsin (final concentration of 10 mg/ml) and 20 μl of DNase (final concentration of 750 units/ml) to 2

The intermuscular 3–7 Hz drive is not affected by distal proprioceptive input in myoclonus-dystonia

NARCIS (Netherlands)

Van der Meer, J.N.; Schouten, A.C.; Bour, L.J.; De Vlugt, E.; Van Rootselaar, A.F.; Van der Helm, F.C.T.; Tijssen, M.A.J.

2010-01-01

In dystonia, both sensory malfunctioning and an abnormal intermuscular low-frequency drive of 3–7 Hz have been found, although cause and eVect are unknown. It is hypothesized that sensory processing is primarily disturbed and induces this drive. Accordingly, experimenter-controlled sensory input

Inter-arm blood pressure differences in pregnant women.

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Poon, L C Y; Kametas, N; Strobl, I; Pachoumi, C; Nicolaides, K H

2008-08-01

To determine the prevalence of blood pressure inter-arm difference (IAD) in early pregnancy and to investigate its possible association with maternal characteristics. A cross-sectional observational study. Routine antenatal visit in a university hospital. A total of 5435 pregnant women at 11-14 weeks of gestation. Blood pressure was taken from both arms simultaneously with a validated automated device. The presence of inter-arm blood pressure difference of 10 mmHg or more. The IAD in systolic and diastolic blood pressure was 10 mmHg or more in 8.3 and 2.3% of the women, respectively. Systolic IAD was found to be significantly related to systolic blood pressure and pulse pressure, and diastolic IAD was found to be significantly related to maternal age, diastolic blood pressure and pulse pressure. The systolic and diastolic IAD were higher in the hypertensive group compared with the normotensive group and absolute IAD increased with increasing blood pressure. About 31.0 and 23.9% of cases of hypertension would have been underreported if the left arm and the right arm were used, respectively, in measuring the blood pressure. There is a blood pressure IAD in a significant proportion of the pregnant population, and its prevalence increases with increasing blood pressure. By measuring blood pressure only on one arm, there is a one in three chance of underreporting hypertension. Therefore, it would be prudent that during the booking visit blood pressure should be taken in both arms and thus provide guidance for subsequent blood pressure measurements during the course of pregnancy.

Botulinum toxin as treatment for focal dystonia : a systematic review of the pharmaco-therapeutic and pharmaco-economic value

NARCIS (Netherlands)

Zoons, E.; Dijkgraaf, M. G. W.; Dijk, J. M.; van Schaik, I. N.; Tijssen, M. A.

2012-01-01

Focal dystonia is a common, invalidating neurologic condition characterized by involuntary, sustained muscle contractions causing twisting movements and abnormal postures in one body part. Currently, botulinum toxin is the treatment of first choice. We performed a systematic review towards the

Botulinum toxin as treatment for focal dystonia: a systematic review of the pharmaco-therapeutic and pharmaco-economic value

NARCIS (Netherlands)

Zoons, E.; Dijkgraaf, M. G. W.; Dijk, J. M.; van Schaik, I. N.; Tijssen, M. A.

2012-01-01

Focal dystonia is a common, invalidating neurologic condition characterized by involuntary, sustained muscle contractions causing twisting movements and abnormal postures in one body part. Currently, botulinum toxin is the treatment of first choice. We performed a systematic review towards the

Prevalence of inter-arm blood pressure difference among clinical out-patients.

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Sharma, Balkishan; Ramawat, Pramila

2016-04-01

An increased inter-arm blood pressure difference is an easily determined physical finding, may use as an indicator of cardio vascular event and other sever diseases. Authors evaluated 477 patients to determine the prevalence and significance of inter-arm blood pressure difference. 477 routine outdoor patients selected to observe the inter-arm blood pressure difference. Age, height, weight, body mass index, history of disease and blood pressure recorded. The prevalence of ≥10 mmHg systolic inter-arm blood pressure difference was 5.0% was more as compared to 3.8% had diastolic inter-arm blood pressure difference. The prevalence of systolic and diastolic inter-arm difference between 6 to 10 mmHg was 31.4% and 27.9% respectively. Mean systolic inter-arm blood pressure difference was significantly higher among those patients had a multisystem disorder (10.57±0.98 mmHg) and followed by patients with cardiovascular disease (10.22±0.67 mmHg) as compared to healthy patients (2.71±0.96 mmHg). Various diseases highly influenced the increase in blood pressure irrespective of systolic or diastolic was confirmed strongly significant (pdifferent inter arm blood pressure difference levels. This study supports the view of inter-arm blood pressure difference as an alarming stage of increased disease risk that incorporated to investigate potential problems at an early diagnostic stage. A significant mean difference between left and right arm blood pressure recorded for many diseases.

Quetiapine Induced Acute Dystonia in a patient with History of severe Head Injury

OpenAIRE

Robert G. Bota; Joanne W. Witkowski

2010-01-01

A patient with a history of severe head injury 10 years ago regained ability to walk after years of being bound to a wheelchair. During the last psychiatric hospitalization, quetiapine was increased to therapeutic dose using a normal titration. As a result the patient developed dystonia of multiple muscle groups requiring 4 days of hospitalization for remittance of symptoms. In this paper, we take a close look at the literature concerning extrapiramidal symptoms (EPS) in this context, and we ...

Botulinum toxin type A versus botulinum toxin type B for cervical dystonia.

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Duarte, Gonçalo S; Castelão, Mafalda; Rodrigues, Filipe B; Marques, Raquel E; Ferreira, Joaquim; Sampaio, Cristina; Moore, Austen P; Costa, João

2016-10-26

This is an update of a Cochrane review first published in 2003. Cervical dystonia is the most common form of focal dystonia and is a disabling disorder characterised by painful involuntary head posturing. There are two available formulations of botulinum toxin, with botulinum toxin type A (BtA) usually considered the first line therapy for this condition. Botulinum toxin type B (BtB) is an alternative option, with no compelling theoretical reason why it might not be as- or even more effective - than BtA. To compare the efficacy, safety and tolerability of botulinum toxin type A (BtA) versus botulinum toxin type B (BtB) in people with cervical dystonia. To identify studies for this review we searched the Cochrane Movement Disorders Group Trials Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, reference lists of articles and conference proceedings. All elements of the search, with no language restrictions, were last run in October 2016. Double-blind, parallel, randomised, placebo-controlled trials (RCTs) comparing BtA versus BtB in adults with cervical dystonia. Two independent authors assessed records, selected included studies, extracted data using a paper pro forma, and evaluated the risk of bias. We resolved disagreements by consensus or by consulting a third author. We performed meta-analyses using the random-effects model, for the comparison BtA versus BtB to estimate pooled effects and corresponding 95% confidence intervals (95% CI). No prespecified subgroup analyses were carried out. The primary efficacy outcome was improvement on any validated symptomatic rating scale, and the primary safety outcome was the proportion of participants with adverse events. We included three RCTs, all new to this update, of very low to low methodological quality, with a total of 270 participants.Two studies exclusively enrolled participants with a known positive response to BtA treatment. This raises concerns of population enrichment

Increasing cognitive load attenuates right arm swing in healthy human walking

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Killeen, Tim; Easthope, Christopher S.; Filli, Linard; Lőrincz, Lilla; Schrafl-Altermatt, Miriam; Brugger, Peter; Linnebank, Michael; Curt, Armin; Zörner, Björn; Bolliger, Marc

2017-01-01

Human arm swing looks and feels highly automated, yet it is increasingly apparent that higher centres, including the cortex, are involved in many aspects of locomotor control. The addition of a cognitive task increases arm swing asymmetry during walking, but the characteristics and mechanism of this asymmetry are unclear. We hypothesized that this effect is lateralized and a Stroop word-colour naming task-primarily involving left hemisphere structures-would reduce right arm swing only. We recorded gait in 83 healthy subjects aged 18-80 walking normally on a treadmill and while performing a congruent and incongruent Stroop task. The primary measure of arm swing asymmetry-an index based on both three-dimensional wrist trajectories in which positive values indicate proportionally smaller movements on the right-increased significantly under dual-task conditions in those aged 40-59 and further still in the over-60s, driven by reduced right arm flexion. Right arm swing attenuation appears to be the norm in humans performing a locomotor-cognitive dual-task, confirming a prominent role of the brain in locomotor behaviour. Women under 60 are surprisingly resistant to this effect, revealing unexpected gender differences atop the hierarchical chain of locomotor control.

Follow-up findings in regional cerebral blood flow (r-CBF)-SPECT in a case of idiopathic childhood hemidystonia. Functional neuroimaging and pathophysiological implications

International Nuclear Information System (INIS)

Fiedler, A.; Aderbauer, J.; Segerer, H.; Marienhagen, J.; Bock, E.; Eilles, C.

1999-01-01

A 9 1/2-year-old girl suffered from intermitting tremor and jitteriness of her left hand and oral muscles every 4 to 6 weeks with long lasting episodes. Clinically myoclonias and dystonic positioning of the left arm, hand and facial muscles were seen. No evidence of trauma, infection or inborn errors of metabolism was found. Successful therapy with carbamazepine was initiated while L-DOPA failed. An ictal 99m-Tc-HMPAO-SPECT showed severe asymmetry with focal hyperperfusion of the contralateral right thalamus and basal ganglia as well as of the bifrontal cortex, whereas no anatomical lesions were found by MRI. In contrast, an interictally performed 99m-Tc-HMPAO SPECT showed hypoperfusion or the right thalamus and normalisation of the frontal perfusion under medical treatment. These 99m-Tc-HMPAO-SPECT findings may provide new insights into the localisation and pathophysiological pathways of idiopathic childhood dystonia. (orig.) [de

Patient characteristics and factors associated with inter-arm difference of blood pressure measurements in a general population in Ohasama, Japan.

Science.gov (United States)

Kimura, Atsushi; Hashimoto, Junichiro; Watabe, Daisuke; Takahashi, Hisaki; Ohkubo, Takayoshi; Kikuya, Masahiro; Imai, Yutaka

2004-12-01

To assess whether there is a natural difference in blood pressure (BP) measurements between the right and left arms, and to identify what factors are associated with this difference in a general population. The study subjects were 1090 individuals who participated in a medical check-up in Ohasama, Japan. The BP was measured simultaneously in both arms, using an automated device. The inter-arm BP difference was expressed as the relative difference [right-arm BP (R) minus left-arm BP (L): R - L] and the absolute difference (|R - L|). The relationship between inter-arm difference and various factors was analyzed using univariate analysis. The characteristics of subjects in whom the absolute systolic BP (SBP) difference was greater than 10 mmHg were analyzed using multivariate logistic analysis. The relative differences in SBP and diastolic BP (DBP) were -0.6 +/- 6.6 (mean +/- SD) and 1.1 +/- 4.7 mmHg, while the absolute differences were 4.9 +/- 4.4 and 3.7 +/- 3.0 mmHg. The absolute SBP difference was found to correlate significantly with age, body mass index, ankle-brachial index (ABI), and hypertension. Subjects with hypertension, hypercholesterolemia, obesity, elevated hemoglobin A1c (HbA1c) and low ABI had a significant and independent increase in the risk of an absolute SBP difference greater than 10 mmHg. The results suggest that there is considerable difference in the measured BP in the right and left arms and that large differences in the absolute SBP are associated with risk factors for arteriosclerosis such as hypertension, hypercholesterolemia, obesity, metabolic abnormalities and low ABI.

Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster

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Noriko Wakabayashi-Ito

2015-07-01

Full Text Available Dystonia represents the third most common movement disorder in humans with over 20 genetic loci identified. TOR1A (DYT1, the gene responsible for the most common primary hereditary dystonia, encodes torsinA, an AAA ATPase family protein. Most cases of DYT1 dystonia are caused by a 3 bp (ΔGAG deletion that results in the loss of a glutamic acid residue (ΔE302/303 in the carboxyl terminal region of torsinA. This torsinAΔE mutant protein has been speculated to act in a dominant-negative manner to decrease activity of wild type torsinA. Drosophila melanogaster has a single torsin-related gene, dtorsin. Null mutants of dtorsin exhibited locomotion defects in third instar larvae. Levels of dopamine and GTP cyclohydrolase (GTPCH proteins were severely reduced in dtorsin-null brains. Further, the locomotion defect was rescued by the expression of human torsinA or feeding with dopamine. Here, we demonstrate that human torsinAΔE dominantly inhibited locomotion in larvae and adults when expressed in neurons using a pan-neuronal promoter Elav. Dopamine and tetrahydrobiopterin (BH4 levels were significantly reduced in larval brains and the expression level of GTPCH protein was severely impaired in adult and larval brains. When human torsinA and torsinAΔE were co-expressed in neurons in dtorsin-null larvae and adults, the locomotion rates and the expression levels of GTPCH protein were severely reduced. These results support the hypothesis that torsinAΔE inhibits wild type torsinA activity. Similarly, neuronal expression of a Drosophila DtorsinΔE equivalent mutation dominantly inhibited larval locomotion and GTPCH protein expression. These results indicate that both torsinAΔE and DtorsinΔE act in a dominant-negative manner. We also demonstrate that Dtorsin regulates GTPCH expression at the post-transcriptional level. This Drosophila model of DYT1 dystonia provides an important tool for studying the differences in the molecular function between the

Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus–Dystonia Syndrome

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Peter Hedera

2016-07-01

Full Text Available Background: Acquired neurogenic stuttering has been considered a fairly uncommon clinical occurrence; speech-activated myoclonus is a rare entity that can mimic stuttering and is caused by a wide array of etiologies.Case Report: Here we report a patient with myoclonus–dystonia syndrome (MDS, due to an identified disease-causing mutation, who displayed speech-activated myoclonus mimicking stuttering.Discussion: In MDS, myoclonus has only infrequently been reported to affect speech. This case further expands the spectrum of conditions causing the rare clinical phenomenon of speech-activated myoclonus. 

SMC Progressively Aligns Chromosomal Arms in Caulobacter crescentus but Is Antagonized by Convergent Transcription

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Ngat T. Tran

2017-08-01

Full Text Available The structural maintenance of chromosomes (SMC complex plays an important role in chromosome organization and segregation in most living organisms. In Caulobacter crescentus, SMC is required to align the left and the right arms of the chromosome that run in parallel down the long axis of the cell. However, the mechanism of SMC-mediated alignment of chromosomal arms remains elusive. Here, using genome-wide methods and microscopy of single cells, we show that Caulobacter SMC is recruited to the centromeric parS site and that SMC-mediated arm alignment depends on the chromosome-partitioning protein ParB. We provide evidence that SMC likely tethers the parS-proximal regions of the chromosomal arms together, promoting arm alignment. Furthermore, we show that highly transcribed genes near parS that are oriented against SMC translocation disrupt arm alignment, suggesting that head-on transcription interferes with SMC translocation. Our results demonstrate a tight interdependence of bacterial chromosome organization and global patterns of transcription.

Touching my left elbow: the anatomical structure of the body affects the illusion of self-touch.

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White, Rebekah C; Aimola Davies, Anne M

2011-01-01

A self-touch paradigm is used to create the illusion that one is touching one's own left elbow when one is actually touching the examiner's arm. Our new self-touch illusion is sensitive to the anatomical structure of the body: you can touch your left elbow with your right index finger but not with your left index finger. Illusion onset was faster and illusion ratings were higher when participants administered touch using the plausible right index finger compared with the implausible left index finger.

Vegetative and hemodynamic responses to stress in adolescents with constitutional-exogenous obesity and vascular dystonia of hypertensive type

OpenAIRE

Larina, N.

2011-01-01

We studied the characteristics of central hemodynamics and autonomic responses to cold and psycho-emotional test in adolescents with obesity and vascular dystonia of hypertensive type. Various options for the autonomic responses accompanied by changes in central hemodynamics as a function of body weight have been identified.

Unilateral variant motor innervations of flexure muscles of arm

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A S Yogesh

2010-01-01

Full Text Available The musculocutaneous nerve usually branches out from the lateral cord of brachial plexus. It innervates the corcobrachialis, biceps brachii and brachialis muscles and continues as the lateral cutaneous nerve of forearm without exhibiting any communication with the median nerve or any other nerve. We report unilateral variation in motor innervations of the left arm in a 58-year-old male cadaver. The musculocutaneous nerve was found to be absent. A muscular branch of the median nerve was supplying the coracobrachialis muscle. In the middle of arm, the median nerve was found to be branching out, bifurcating and supplying the long and short head of biceps. The median nerve was found to be giving a separate branch, which supplied the brachialis muscle and continued as the lateral cutaneous nerve of forearm. The right sided structures were found to be normal. Surgeons should keep such variations in mind while performing arm surgeries.

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

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Sweney, Matthew T; Newcomb, Tara M; Swoboda, Kathryn J

2015-01-01

ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome. Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes. While classically defined phenotypes associated with AHC, RDP, and CAPOS syndromes are distinct, common elements among ATP1A3-related neurological disorders include characteristic episodic neurological symptoms and signs that vary in severity, duration, and frequency of occurrence. Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor abnormalities, hypotonia, paralysis, dystonia, ataxia, seizure-like episodes, or encephalopathy. Neurodevelopmental delays or persistence of dystonia, chorea, or ataxia after resolution of an initial episode are common, providing important clues for diagnosis. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand beyond the distinct yet overlapping phenotypes in patients with AHC, RDP, and CAPOS syndromes. ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes. Additional work is needed to better identify and classify affected patients and develop targeted treatment approaches. Copyright © 2015 Elsevier Inc. All rights reserved.

Placement of iliosacral screws using 3D image-guided (O-Arm) technology and Stealth Navigation: comparison with traditional fluoroscopy.

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Theologis, A A; Burch, S; Pekmezci, M

2016-05-01

We compared the accuracy, operating time and radiation exposure of the introduction of iliosacral screws using O-arm/Stealth Navigation and standard fluoroscopy. Iliosacral screws were introduced percutaneously into the first sacral body (S1) of ten human cadavers, four men and six women. The mean age was 77 years (58 to 85). Screws were introduced using a standard technique into the left side of S1 using C-Arm fluoroscopy and then into the right side using O-Arm/Stealth Navigation. The radiation was measured on the surgeon by dosimeters placed under a lead thyroid shield and apron, on a finger, a hat and on the cadavers. There were no neuroforaminal breaches in either group. The set-up time for the O-Arm was significantly longer than for the C-Arm, while total time for placement of the screws was significantly shorter for the O-Arm than for the C-Arm (p = 0.001). The mean absorbed radiation dose during fluoroscopy was 1063 mRad (432.5 mRad to 4150 mRad). No radiation was detected on the surgeon during fluoroscopy, or when he left the room during the use of the O-Arm. The mean radiation detected on the cadavers was significantly higher in the O-Arm group (2710 mRem standard deviation (sd) 1922) than during fluoroscopy (11.9 mRem sd 14.8) (p Cite this article: Bone Joint J 2016;98-B:696-702. ©2016 The British Editorial Society of Bone & Joint Surgery.

Adductor laryngeal breathing dystonia in NBIA treated with botulinum toxin-A

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Vinod Rai

2013-01-01

Full Text Available We report a rare case of neurodegeneration with brain iron accumulation (NBIA presented with episodic inspiratory stridor. A 10-year-old boy presented with 3-year history of gradually progressive spastic gait and generalized dystonia (involving all four limbs, neck, jaw, and speech. MRI brain showed "Eye of Tiger" sign. He recently developed severe inspiratory stridor associated with almost gasping respiration. Direct video laryngoscopy showed paradoxical vocal cord closure during inspiration. He was treated with EMG-guided botulinum toxin-A injection given into bilateral thyroarytenoid muscles, resulting in dramatic response with complete disappearance of the stridor within a week. The effect lasted 18 months.

No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations1

DEFF Research Database (Denmark)

Hjermind, L.E.; Vissing, J.; Asmus, F.

2008-01-01

Mutations in the epsilon-sarcoglycan gene (SGCE) can cause autosomal dominant inherited myoclonus-dystonia (M-D). Defects in other sarcoglycans; alpha-, beta-, gamma-, and delta can cause autosomal recessive inherited limb girdle muscular dystrophies. epsilon- and alpha-sarcoglycans are very...... strength and mass showed no difference between M-D patients and controls. Our findings indicate that patients with M-D have no signs or symptoms of muscle disease. This suggests a different role of the sarcoglycan complex epsilonbetagammadelta versus alphabetagammadelta complex in humans, as earlier...

Comparison study of upper arm and forearm non-invasive blood pressures in adult Emergency Department patients.

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Schimanski, Karen; Jull, Andrew; Mitchell, Nancy; McLay, Jessica

2014-12-01

Forearm blood pressures have been suggested as an alternative site to measure blood pressures when the upper arm is unavailable. However there is little evidence utilising clinical populations to support this substitution. To determine agreement between blood pressures measured in the left upper arm and forearm using a singular oscillometric non-invasive device in adult Emergency Department patients. The secondary objective was to explore the relationship of blood pressure differences with age, sex, ethnicity, smoking history and obesity. Single centre comparison study. Adult Emergency Department, Tertiary Trauma Centre. Forty-four participants who met inclusion/exclusion criteria selected sequentially from the Emergency Department arrival board. A random assignment of order of measurement for left upper arm and forearm blood pressures was utilised. Participants were eligible if they were aged 18 years or older, had been assigned an Australasian Triage Scale code of 2, 3, 4, or 5, were able to consent, and able to have blood pressures measured on their left arm whilst lying at a 45° angle. The Bland-Altman method of statistical analysis was used, with the level of agreement for clinical acceptability for the systolic, diastolic and mean arterial pressure defined as ±10 mmHg. The forearm measure overestimated systolic (mean difference 2.2 mmHg, 95% limits of agreement ±19 mmHg), diastolic (mean difference 3.4 mmHg, 95% limits of agreement ±14.4 mmHg), and mean arterial pressures (mean difference 4.1 mmHg, 95% limits of agreement ±13.7 mmHg). The systolic measure was not significantly different from zero. Evidence of better agreement was found with upper arm/forearm systolic measures below 140 mmHg compared to systolic measures above 140 mmHg using the Levene's test (p=0.002, F-statistic=11.09). Blood pressure disparity was not associated with participant characteristics. Forearm measures cannot routinely replace upper arm measures for blood pressure measurement

The inter-arm diastolic blood pressure difference induced by one arm ischemia: a new approach to assess vascular endothelia function.

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Weitong Hu

Full Text Available OBJECTIVES: To evaluate whether inter-arm diastolic blood pressure difference (DBPl-r induced by one arm ischemia correlates with flow-mediated dilatation (FMD. METHODS: Bilateral arm BPs were simultaneously measured with two automatic devices and right brachial artery diameter (D was measured by ultrasound technique in 108 subjects (56 hypertensives and 52 normotensives. Following baseline diameter (D0 and BP measurement, right brachial artery was occluded for 5 minutes. The diameter was measured at 1, 1.5 and 2 min, and bilateral BPs measured at 3, 4 and 5 min after occlusion release. Their averages were recorded as post-D and post-BP, respectively. The difference between post-D and D0 (ΔD was calculated as the percentage increase of artery diameter (ΔD/D0. The BP difference between left and right arms was calculated as BPl-r, and the difference of post- BPl-r and baseline BPl-r was recorded as the net change of BPl-r (ΔBPl-r. RESULTS: At baseline, bilateral SBPs and DBPs were similar. Right arm ischemia induced significant DBP decline only in the right arm (68.8±12.7 vs 72.6±12.0 mmHg, P<0.05, which led to an increase of ΔDBPl-r (4.00±3.75 vs 0.78±4.47 mmHg, P<0.05. A positive correlation was seen between ΔD/D0 and ΔDBPl-r (r = 0.744, p<0.001. Furthermore, the correlation between age and ΔDBPl-r (r = -0.358, P<0.01 was similar to that between age and D/D0 (r = -0.398, P<0.01. Meanwhile, both ΔDBPl-r and ΔD/D0 were significantly lower in hypertensive patients than in normotensive patients. CONCLUSION: The inter-arm DBP difference induced by one arm ischemia may be a potential index for clinical evaluation of vascular endothelial function.

A randomized trial of specialized versus standard neck physiotherapy in cervical dystonia.

Science.gov (United States)

Counsell, Carl; Sinclair, Hazel; Fowlie, Jillian; Tyrrell, Elaine; Derry, Natalie; Meager, Peter; Norrie, John; Grosset, Donald

2016-02-01

Anecdotal reports suggested that a specialized physiotherapy technique developed in France (the Bleton technique) improved primary cervical dystonia. We evaluated the technique in a randomized trial. A parallel-group, single-blind, two-centre randomized trial compared the specialized outpatient physiotherapy programme given by trained physiotherapists up to once a week for 24 weeks with standard physiotherapy advice for neck problems. Randomization was by a central telephone service. The primary outcome was the change in the total Toronto Western Spasmodic Torticollis Rating (TWSTR) scale, measured before any botulinum injections that were due, between baseline and 24 weeks evaluated by a clinician masked to treatment. Analysis was by intention-to-treat. 110 patients were randomized (55 in each group) with 24 week outcomes available for 84. Most (92%) were receiving botulinum toxin injections. Physiotherapy adherence was good. There was no difference between the groups in the change in TWSTR score over 24 weeks (mean adjusted difference 1.44 [95% CI -3.63, 6.51]) or 52 weeks (mean adjusted difference 2.47 [-2.72, 7.65]) nor in any of the secondary outcome measures (Cervical Dystonia Impact Profile-58, clinician and patient-rated global impression of change, mean botulinum toxin dose). Both groups showed large sustained improvements compared to baseline in the TWSTR, most of which occurred in the first four weeks. There were no major adverse events. Subgroup analysis suggested a centre effect. There was no statistically or clinically significant benefit from the specialized physiotherapy compared to standard neck physiotherapy advice but further trials are warranted. Copyright © 2015 Elsevier Ltd. All rights reserved.

Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a 'Rosetta Stone' study.

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Elze, Markus C; Gimeno, Hortensia; Tustin, Kylee; Baker, Lesley; Lumsden, Daniel E; Hutton, Jane L; Lin, Jean-Pierre S-M

2016-02-01

Hyperkinetic movement disorders (HMDs) can be assessed using impairment-based scales or functional classifications. The Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFM-M) evaluates dystonia impairment, but may not reflect functional ability. The Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) are widely used in the literature on cerebral palsy to classify functional ability, but not in childhood movement disorders. We explore the concordance of these three functional scales in a large sample of paediatric HMDs and the impact of dystonia severity on these scales. Children with HMDs (n=161; median age 10y 3mo, range 2y 6mo-21y) were assessed using the BFM-M, GMFCS, MACS, and CFCS from 2007 to 2013. This cross-sectional study contrasts the information provided by these scales. All four scales were strongly associated (all Spearman's rank correlation coefficient rs >0.72, pdisorders including cerebral palsy can be effectively evaluated using these scales. © 2015 Mac Keith Press.

An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria

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Padma Balaji

2014-01-01

Full Text Available L-2-hydroxyglutaric aciduria (L-2-HGA, a neurometabolic disorder caused by mutations in the L-2 hydroxyglutarate dehydrogenase (L-2-HGDH gene, presents with psychomotor retardation, cerebellar ataxia, extrapyramidal symptoms, macrocephaly and seizures. Characteristic magnetic resonance imaging findings include subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus, putamen and caudate nucleus. The diagnosis can be confirmed by elevated urinary L-2 hydroxyglutaric acid and mutational analysis of the L-2-HGDH gene. We report two siblings with dystonia diagnosed by classical neuroimaging findings with elevated urinary 2 hydroxyglutaric acid. Riboflavin therapy has shown promising results in a subset of cases, thus highlighting the importance of making the diagnosis in these patients.

PET activation in basal ganglia disorders: Parkinson`s disease and dystonia; PET-Aktivierungsstudien bei Basalganglienerkrankungen: Morbus Parkinson und Dystonien

Energy Technology Data Exchange (ETDEWEB)

Ceballos-Baumann, A.O. [Neurologische Klinik, Technische Univ. Muenchen (Germany); Boecker, H. [Neurologische Klinik, Technische Univ. Muenchen (Germany); Conrad, B. [Neurologische Klinik, Technische Univ. Muenchen (Germany)

1997-03-01

This article reviews PET activation studies with performance of different motor paradigms (joy-stick movements, imagination of movement, writing) in patients with movement disorders. The focus will be on Parkinson`s disease (PD) and dystonia. PET findings will be related to clinical and electrophysiological observations. PET activation studies before and after therapeutic interventions such as pallidotomy in Parkinson`s disease and botulinum toxin in writer`s cramp are described. The contribution of PET activation studies to the understanding of the pathophysiology of dystonia and PD is discussed. (orig.) [Deutsch] Der Beitrag beschreibt verschiedene PET-Aktivierungsstudien mit motorischen Paradigmen (`joystick`-Bewegungen, Vorstellung von Bewegung, Schreiben) bei Bewegungsstoerungen, im wesentlichen bei Patienten mit Dystonie, einer Hyperkinese, und Morbus Parkinson als Hypokinese. Die experimentellen Befunde werden mit der Klinik in Bezug gebracht. Neue Untersuchungen vor und nach therapeutischen Interventionen, wie die stereotaktische Pallidotomie bei Parkinson und die Botulinum-Toxin-Therapie bei Schreibkrampf, werden beschrieben. Der Beitrag von PET-Aktivierungsstudien zum Verstaendnis der Pathophysiologie von Bewegungsstoerungen wird diskutiert. (orig.)

Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia.

Science.gov (United States)

Dang, Mai T; Yokoi, Fumiaki; McNaught, Kevin St P; Jengelley, Toni-Ann; Jackson, Tehone; Li, Jianyong; Li, Yuqing

2005-12-01

A trinucleotide deletion of GAG in the DYT1 gene that encodes torsinA protein is implicated in the neurological movement disorder of Oppenheim's early-onset dystonia. The mutation removes a glutamic acid in the carboxy region of torsinA, a member of the Clp protease/heat shock protein family. The function of torsinA and the role of the mutation in causing dystonia are largely unknown. To gain insight into these unknowns, we made a gene-targeted mouse model of Dyt1 DeltaGAG to mimic the mutation found in DYT1 dystonic patients. The mutated heterozygous mice had deficient performance on the beam-walking test, a measure of fine motor coordination and balance. In addition, they exhibited hyperactivity in the open-field test. Mutant mice also showed a gait abnormality of increased overlap. Mice at 3 months of age did not display deficits in beam-walking and gait, while 6-month mutant mice did, indicating an age factor in phenotypic expression as well. While striatal dopamine and 4-dihydroxyphenylacetic acid (DOPAC) levels in Dyt1 DeltaGAG mice were similar to that of wild-type mice, a 27% decrease in 4-hydroxy, 3-methoxyphenacetic acid (homovanillic acid) was detected in mutant mice. Dyt1 DeltaGAG tissues also have ubiquitin- and torsinA-containing aggregates in neurons of the pontine nuclei. A sex difference was noticed in the mutant mice with female mutant mice exhibiting fewer alterations in behavioral, neurochemical, and cellular changes. Our results show that knocking in a Dyt1 DeltaGAG allele in mouse alters their motor behavior and recapitulates the production of protein aggregates that are seen in dystonic patients. Our data further support alterations in the dopaminergic system as a part of dystonia's neuropathology.

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.

Science.gov (United States)

Yokoi, Fumiaki; Dang, Mai T; Yang, Guang; Li, Jindong; Doroodchi, Atbin; Zhou, Tong; Li, Yuqing

2012-02-01

Myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonia. DYT11 M-D is caused by mutations in SGCE which codes for ɛ-sarcoglycan. SGCE is maternally imprinted and paternally expressed. Abnormal nuclear envelope has been reported in mouse models of DYT1 generalized torsion dystonia. However, it is not known whether similar alterations occur in DYT11 M-D. We developed a mouse model of DYT11 M-D using paternally inherited Sgce heterozygous knockout (Sgce KO) mice and reported that they had myoclonus and motor coordination and learning deficits in the beam-walking test. However, the specific brain regions that contribute to these phenotypes have not been identified. Since ɛ-sarcoglycan is highly expressed in the cerebellar Purkinje cells, here we examined the nuclear envelope in these cells using a transmission electron microscope and found that they are abnormal in Sgce KO mice. Our results put DYT11 M-D in a growing family of nuclear envelopathies. To analyze the effect of loss of ɛ-sarcoglycan function in the cerebellar Purkinje cells, we produced paternally inherited cerebellar Purkinje cell-specific Sgce conditional knockout (Sgce pKO) mice. Sgce pKO mice showed motor learning deficits, while they did not show abnormal nuclear envelope in the cerebellar Purkinje cells, robust motor deficits, or myoclonus. The results suggest that ɛ-sarcoglycan in the cerebellar Purkinje cells contributes to the motor learning, while loss of ɛ-sarcoglycan in other brain regions may contribute to nuclear envelope abnormality, myoclonus and motor coordination deficits. Copyright © 2011 Elsevier B.V. All rights reserved.

Unified nature of bimanual movements revealed by separating the preparation of each arm.

Science.gov (United States)

Blinch, Jarrod; Franks, Ian M; Carpenter, Mark G; Chua, Romeo

2015-06-01

Movement preparation of bimanual asymmetric movements is longer than bimanual symmetric movements in choice reaction time conditions, even when movements are cued directly by illuminating the targets (Blinch et al. in Exp Brain Res 232(3):947-955, 2014). This bimanual asymmetric cost may be caused by increased processing demands on response programming, but this requires further investigation. The present experiment tested the demands on response programming for bimanual movements by temporally separating the preparation of each arm. This was achieved by precuing the target of one arm before the imperative stimulus. We asked: What was prepared in advance when one arm was precued? The answer to this question would suggest which process causes the bimanual asymmetric cost. Advance movement preparation was examined by comparing reaction times with and without a precue for the left target and by occasionally replacing the imperative stimulus with a loud, startling tone (120 dB). A startle tone releases whatever movement is prepared in advance with a much shorter reaction time than control trials (Carlsen et al. in Clin Neurophysiol 123(1):21-33, 2012). Participants made bimanual symmetric and asymmetric reaching movements in simple and 2-choice reaction time conditions and a condition with a precue for the left target. We found a bimanual asymmetric cost in 2-choice conditions, and the asymmetric cost was significantly smaller when the left target was precued. These results, and the results from startle trials, suggest (1) that the precued movement was not fully programmed but partially programmed before the imperative stimulus and (2) that the asymmetric cost was caused by increased processing demands on response programming. Overall, the results support the notion that bimanual movements are not the sum of two unimanual movements; instead, the two arms of a bimanual movement are unified into a functional unit. When one target is precued, this critical unification

6A.03: THE RELATIONSHIP BETWEEN INTER-ARM SYSTOLIC BLOOD PRESSURE AND CARDIOVASCULAR RISK FACTORS.

Science.gov (United States)

Ma, W; Zhang, B; Yang, Y; Qi, L; Meng, L; Zhang, Y; Huo, Y

2015-06-01

To analyze the relationship between the inter arm blood pressure difference (IASBPD) and other cardiovascular risk factors. To identify what factors are associated with this difference in a general population. The study subjects were 1426 individuals. The BP was measured simultaneously in both arms by VP1000 vascular profiler (Omron Colin, Japan). The inter-arm BP difference was expressed as the absolute difference (|R - L|). The various risk factors, ba-PWV, carotid IMT and plaque were compared between IASBPD more than 10mmHg group and IASBPD less than 10mmHg group. The relationship between IASBPD more than 10mmHg and various cardiovascular risk factors were analyzed by multivariate logistic analysis. Left upper limb systolic blood pressure was higher than the right upper limb, while right upper limb diastolic pressure was higher than the left upper limb. The prevalence of hypertension was higher in IASBPD increasing group than normal group (40.5% vs 22.6%, p blood pressure were also higher in IASBPD increasing group(p blood pressure, BMI and ABI independently, which may partly explain the mechanism that increasing IASBPD is associated with cardiovascular disease.

Injerto libre braquial medial Free medial arm graft

Directory of Open Access Journals (Sweden)

P. Martos Díaz

2007-12-01

Full Text Available Introducción. Entre las reconstrucciones de defectos titulares de cabeza y cuello, el injerto libre microvascularizado braquial medial no ha adquirido mucha popularidad debido a las variaciones anatómicas que se reflejan en la vascularización de éste. Nuestro objetivo es realizar una descripción de la anatomía y técnica quirúrgica, así como una revisión de la literatura describiendo las ventajas y desventajas de este tipo de injerto. Material y método. Presentamos el caso de una paciente con carcinoma epidermoide de mucosa yugal izquierda con afectación ganglionar ipsilateral. Se procedió a su resección con márgenes más disección cervical funcional. La reconstrucción del defecto se llevó a cabo mediante un injerto libre microvascularizado braquial medial de brazo izquierdo. Discusión. Pensamos que el injerto libre braquial medial de brazo se trata de una opción más segura a la hora de la reconstrucción de defectos cervicofaciales, aportando una serie de ventajas entre las que destacan: no sacrificio de una arteria terminal, cierre primario de la zona donante, mínimo defecto estético, y poseer una piel fina, elástica y sin vello.Introduction. Free medial microvascularized arm grafts have not become very popular for the reconstruction of head and neck defects due to anatomic variations in their vascularization. Our objective was to describe the anatomy and surgical technique and to review the literature on the advantages and disadvantages of free medial arm grafts. Material and methods. We report the case of a patient with squamous cell carcinoma of the left jugal mucosa with same-side lymph node involvement. The tumor was resected with margins and a functional cervical dissection was performed. The defect was reconstructed using a free medial microvascularized graft from the left arm. Discussion. We believe that free medial arm grafts are a safer option for the reconstruction of cervicofacial defects and that they offer

Enhancement Of Motor Recovery Through Left Dorsolateral Prefrontal Cortex Stimulation After Acute Ischemic Stroke

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Shahram Oveisgharan

2017-02-01

Full Text Available Background: Two previous studies, which investigated transcranial direct current stimulation (tDCS use in motor recovery after acute ischemic stroke, did not show tDCS to be effective in this regard. We speculated that additional left dorsolateral prefrontal cortex ‎(DLPFC ‎stimulation may enhance post stroke motor recovery.  ‎ Methods: In the present randomized clinical trial, 20 acute ischemic stroke patients were recruited. Patients received real motor cortex (M1 stimulation in both arms of the trial. The two arms differed in terms of real vs. sham stimulation over the left DLPFC‎. Motor component of the Fugl-Meyer upper extremity assessment (FM and Action Research Arm Test (ARAT scores were used to assess primary outcomes, and non-linear mixed effects models were used for data analyses. Results: Primary outcome measures improved more and faster among the real stimulation group. During the first days of stimulations, sham group’s FM scores increased 1.2 scores per day, while real group’s scores increased 1.7 scores per day (P = 0.003. In the following days, FM improvement decelerated in both groups. Based on the derived models, a hypothetical stroke patient with baseline FM score of 15 improves to 32 in the sham stimulation group and to 41 in the real stimulation group within the first month after stroke. Models with ARAT scores yielded nearly similar results. Conclusion: The current study results showed that left DLPFC‎ stimulation in conjunction with M1 stimulation resulted in better motor recovery than M1 stimulation alone.

Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia

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Demircioglu, F. Esra; Sosa, Brian A.; Ingram, Jessica; Ploegh, Hidde L.; Schwartz, Thomas U.

2016-08-04

The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deletion (ΔE) at position 302/303 of TorsinA, a AAA+ ATPase that resides in the endoplasmic reticulum. While the function of TorsinA remains elusive, the ΔE mutation is known to diminish binding of two TorsinA ATPase activators: lamina-associated protein 1 (LAP1) and its paralog, luminal domain like LAP1 (LULL1). Using a nanobody as a crystallization chaperone, we obtained a 1.4 Å crystal structure of human TorsinA in complex with LULL1. This nanobody likewise stabilized the weakened TorsinAΔE-LULL1 interaction, which enabled us to solve its structure at 1.4 Å also. A comparison of these structures shows, in atomic detail, the subtle differences in activator interactions that separate the healthy from the diseased state. This information may provide a structural platform for drug development, as a small molecule that rescues TorsinAΔE could serve as a cure for primary dystonia.

Computer-Aided Design/Computer-Assisted Manufacture-Derived Needle Guide for Injection of Botulinum Toxin into the Lateral Pterygoid Muscle in Patients with Oromandibular Dystonia.

Science.gov (United States)

Yoshida, Kazuya

2018-01-01

To evaluate the effectiveness and safety of botulinum toxin administration into the inferior head of the lateral pterygoid muscle of patients with jaw opening dystonia by using a computer-aided design/computer-assisted manufacture (CAD/CAM)-derived needle guide. A total of 17 patients with jaw opening dystonia were enrolled. After the patient's computed tomography (CT) scan was imported and fused with a scan of a plaster cast model of the maxilla, the optimal needle insertion site over the lateral pterygoid muscle was determined using the NobelClinician software. A total of 13 patients were injected both with and without the guide, and 4 patients underwent guided injection alone. The therapeutic effects of botulinum toxin injection and its associated complications were statistically compared between the guided and unguided procedures using paired t test. Botulinum toxin therapy was performed 42 and 32 times with and without the guides, respectively. The needle was easily inserted without any complications in all procedures. There was a significant difference (P < .001) between the mean comprehensive improvements observed with (66.3%) and without (54.4%) the guides. The findings suggest that the use of needle guides during the injection of botulinum toxin into the inferior head of the lateral pterygoid muscle is very useful for aiding the accurate and safe administration of botulinum toxin therapy for jaw opening dystonia.

Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

Science.gov (United States)

de Gusmão, Claudio M; Fuchs, Tania; Moses, Andrew; Multhaupt-Buell, Trisha; Song, Phillip C; Ozelius, Laurie J; Franco, Ramon A; Sharma, Nutan

2016-10-01

Spasmodic dysphonia is a focal dystonia of the larynx with heterogeneous manifestations and association with familial risk factors. There are scarce data to allow precise understanding of etiology and pathophysiology. Screening for dystonia-causing genetic mutations has the potential to allow accurate diagnosis, inform about genotype-phenotype correlations, and allow a better understanding of mechanisms of disease. Cross-sectional study. Tertiary academic medical center. We enrolled patients presenting with spasmodic dysphonia to the voice clinic of our academic medical center. Data included demographics, clinical features, family history, and treatments administered. The following genes with disease-causing mutations previously associated with spasmodic dysphonia were screened: TOR1A (DYT1), TUBB4 (DYT4), and THAP1 (DYT6). Eighty-six patients were recruited, comprising 77% females and 23% males. A definite family history of neurologic disorder was present in 15% (13 of 86). Average age (± standard deviation) of symptom onset was 42.1 ± 15.7 years. Most (99%; 85 of 86) were treated with botulinum toxin, and 12% (11 of 86) received oral medications. Genetic screening was negative in all patients for the GAG deletion in TOR1A (DYT1) and in the 5 exons currently associated with disease-causing mutations in TUBB4 (DYT4). Two patients tested positive for novel/rare variants in THAP1 (DYT6). Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. Clinicians should make use of genetic testing judiciously and in cost-effective ways. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2016.

Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?

Science.gov (United States)

Roze, Emmanuel; Cochen, Valérie; Sangla, Sophie; Bienvenu, Thierry; Roubergue, Anne; Leu-Semenescu, Smaranda; Vidaihet, Marie

2007-02-15

Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Science.gov (United States)

Maas, Roeltje R.; Iwanicka‐Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al‐Owain, Mohammed A.; Al‐Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hörster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs‐Nagy, Reka; Krumina, Zita; Martin‐Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.

2017-01-01

Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. Methods This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results Sixty‐seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy‐nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic “putaminal eye” was seen in 53%. The urinary marker 3‐methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills. Interpretation MEGDHEL syndrome is a progressive deafness–dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004–1015 PMID:29205472

A relationship between bruxism and orofacial-dystonia? A trigeminal electrophysiological approach in a case report of pineal cavernoma

OpenAIRE

Frisardi, Gianni; Iani, Cesare; Sau, Gianfranco; Frisardi, Flavio; Leornadis, Carlo; Lumbau, Aurea; Enrico, Paolo; Sirca, Donatella; Staderini, Enrico Maria; Chessa, Giacomo

2013-01-01

Background: In some clinical cases, bruxism may be correlated to central nervous system hyperexcitability, suggesting that bruxism may represent a subclinical form of dystonia. To examine this hypothesis, we performed an electrophysiological evaluation of the excitability of the trigeminal nervous system in a patient affected by pineal cavernoma with pain symptoms in the orofacial region and pronounced bruxism. Methods: Electrophysiological studies included bilateral electrical transcrania...

Robotic arm

Science.gov (United States)

Kwech, Horst

1989-04-18

A robotic arm positionable within a nuclear vessel by access through a small diameter opening and having a mounting tube supported within the vessel and mounting a plurality of arm sections for movement lengthwise of the mounting tube as well as for movement out of a window provided in the wall of the mounting tube. An end effector, such as a grinding head or welding element, at an operating end of the robotic arm, can be located and operated within the nuclear vessel through movement derived from six different axes of motion provided by mounting and drive connections between arm sections of the robotic arm. The movements are achieved by operation of remotely-controllable servo motors, all of which are mounted at a control end of the robotic arm to be outside the nuclear vessel.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

DEFF Research Database (Denmark)

Zazo Seco, Celia; Castells-Nobau, Anna; Joo, Seol-Hee

2017-01-01

A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous no...

Comparing health locus of control in patients with Spasmodic Dysphonia, Functional Dysphonia and Nonlaryngeal Dystonia.

Science.gov (United States)

Haselden, Karen; Powell, Theresa; Drinnan, Mike; Carding, Paul

2009-11-01

Locus of Control (LoC) refers to an individuals' perception of whether they are in control of life events. Health Locus of Control refers to whether someone feels they have influence over their health. Health Locus of Control has not been studied in any depth in voice-disordered patients. The objective of this study was to examine Health Locus of Control in three patient groups: (1) Spasmodic Dysphonia, (2) Functional Dysphonia and (3) a nondysphonic group with Nonlaryngeal Dystonia. LoC was measured and compared in a total of 57 patients using the Multidimensional Health Locus of Control Scales (diagnostic specific) Form C. Internal, Chance, and Powerful others LoC were measured and comparisons were made using one-way analysis of variance. Contrary to expectations Internal LoC was found to be significantly higher in the Functional Dysphonia group when compared to the other two groups. There was no significant difference between the groups in Chance or Powerful others LoC. The two organic groups, Spasmodic Dysphonia and Nonlaryngeal Dystonia, were more alike in Internal Health Locus of Control than the Functional Dysphonia group. The diagnostic nature of the groups was reflected in their LoC scores rather than their voice loss. These results contribute to the debate about the etiology of Spasmodic Dysphonia and will be of interest to those involved in the psychology of voice and those managing voice-disordered patients.

Impact of the Absolute Difference in Diastolic Blood Pressure Between Arms in Patients With Coronary Artery Disease

OpenAIRE

Hitaka, Yuka; Miura, Shin-ichiro; Koyoshi, Rie; Shiga, Yuhei; Miyase, Yuiko; Norimatsu, Kenji; Nakamura, Ayumi; Adachi, Sen; Kuwano, Takashi; Sugihara, Makoto; Ike, Amane; Nishikawa, Hiroaki; Saku, Keijiro

2015-01-01

Background We investigated the relationship between the severity and presence of coronary artery disease (CAD) and a difference in systolic and diastolic blood pressure (SBP and DBP) between arms or between lower limbs. Methods We enrolled 277 patients who underwent coronary angiography. We calculated the absolute (|right BP (rt. BP) - left BP (lt. BP)|) and relative (rt. BP - lt. BP) differences in SBP or DBP between arms or between lower limbs, and assessed the severity of CAD in terms of t...

Arteries of the falciform ligament on C-arm CT hepatic arteriography: The hepatic falciform artery and the Sappey's superior artery

Energy Technology Data Exchange (ETDEWEB)

Hur, Saebeom; Chung, Jin Wook; Lee, Jae Hwan; Cho, SooBeum; Kim, Minuk; Lee, Myungsu; Kim, Hyo-Cheol; Jae, Hwan Jun [Seoul National University Hospital, Department of Radiology, Seoul (Korea, Republic of); Zhou, Chun Gao [First Affiliated Hospital of Nanjing Medical University, Department of Interventional Radiology, Nanjing, Jangsu (China)

2017-04-15

To investigate the prevalence, anatomy and distribution of the hepatic falciform artery (HFA) and Sappey's superior artery (SSA) using C-arm CT hepatic arteriography (C-arm CTHA). From January 2011 to December 2012, 220 patients who underwent C-arm CTHA during initial transarterial treatment for hepatocellular carcinoma were included in this retrospective study. The HFAs and SSAs prevalence and origin were evaluated using axial images of C-arm CTHA. A 5-point scale for HFAs and a 4-point scale for SSAs were used to designate the radiologically conspicuous arteries. The prevalences of the total HFAs and SSAs were 95 % (n=209) and 22 % (n=49), while those of radiologically conspicuous HFAs and SSAs were 62 % (n=137) and 10 % (n=22), respectively. Thirty HFAs (22 % of radiologically conspicuous HFAs and 14 % of the total study population) were distributed in the subcutaneous layer of the anterior abdominal wall, while the majority of SSAs ran through the superior part of the falciform ligament in the left-anterior direction and anastomosed with left inferior phrenic artery. Our study using C-arm CTHA revealed that the prevalence of the HFA is higher than the existing knowledge and proved the existence of the SSA radiologically for the first time. (orig.)

Arteries of the falciform ligament on C-arm CT hepatic arteriography: The hepatic falciform artery and the Sappey's superior artery

International Nuclear Information System (INIS)

Hur, Saebeom; Chung, Jin Wook; Lee, Jae Hwan; Cho, SooBeum; Kim, Minuk; Lee, Myungsu; Kim, Hyo-Cheol; Jae, Hwan Jun; Zhou, Chun Gao

2017-01-01

To investigate the prevalence, anatomy and distribution of the hepatic falciform artery (HFA) and Sappey's superior artery (SSA) using C-arm CT hepatic arteriography (C-arm CTHA). From January 2011 to December 2012, 220 patients who underwent C-arm CTHA during initial transarterial treatment for hepatocellular carcinoma were included in this retrospective study. The HFAs and SSAs prevalence and origin were evaluated using axial images of C-arm CTHA. A 5-point scale for HFAs and a 4-point scale for SSAs were used to designate the radiologically conspicuous arteries. The prevalences of the total HFAs and SSAs were 95 % (n=209) and 22 % (n=49), while those of radiologically conspicuous HFAs and SSAs were 62 % (n=137) and 10 % (n=22), respectively. Thirty HFAs (22 % of radiologically conspicuous HFAs and 14 % of the total study population) were distributed in the subcutaneous layer of the anterior abdominal wall, while the majority of SSAs ran through the superior part of the falciform ligament in the left-anterior direction and anastomosed with left inferior phrenic artery. Our study using C-arm CTHA revealed that the prevalence of the HFA is higher than the existing knowledge and proved the existence of the SSA radiologically for the first time. (orig.)

Robotic arm

International Nuclear Information System (INIS)

Kwech, H.

1989-01-01

A robotic arm positionable within a nuclear vessel by access through a small diameter opening and having a mounting tube supported within the vessel and mounting a plurality of arm sections for movement lengthwise of the mounting tube as well as for movement out of a window provided in the wall of the mounting tube is disclosed. An end effector, such as a grinding head or welding element, at an operating end of the robotic arm, can be located and operated within the nuclear vessel through movement derived from six different axes of motion provided by mounting and drive connections between arm sections of the robotic arm. The movements are achieved by operation of remotely-controllable servo motors, all of which are mounted at a control end of the robotic arm to be outside the nuclear vessel. 23 figs

Normalizing biased spatial attention with parietal rTMS in a patient with focal hand dystonia

DEFF Research Database (Denmark)

Ricci, Raffaella; Salatino, Adriana; Siebner, Hartwig R

2014-01-01

We report the following case to highlight the possible relevance of biased spatial attention in focal hand dystonia (FHD). Deficient sensorimotor inhibition is a prominent pathophysiological feature of FHD [1,2]. Low-frequency repetitive Trascranial Magnetic Stimulation (rTMS) over contralateral...... premotor cortex (PMC) can reinforce cortical inhibition and improve motor performance and dystonic symptoms in some patients [3,4]. Here we report the case of a 41-year-old right-handed man (23 years of education) with severe task-dependent FHD, affecting the right hand index and middle fingers....

Modulating Arm Swing Symmetry with Cognitive Load: A Window on Rhythmic Spinal Locomotor Networks in Humans?

Science.gov (United States)

Killeen, Tim; Easthope, Christopher S; Filli, Linard; Linnebank, Michael; Curt, Armin; Bolliger, Marc; Zörner, Björn

2017-05-15

In healthy subjects, changes in arm swing symmetry while walking are observed when a cognitive dual task is added, with a tendency toward left-dominant arm swing as cognitive load increases. We applied a modified Stroop word/color naming paradigm to investigate this effect in spinal cord injured (SCI) patients. Six patients with cervical SCI (cSCI), 6 with thoracic injuries (tSCI; all 12 patients American Spinal Injury Association [ASIA] Injury Score [AIS]D), and 12 healthy, matched controls underwent three-dimensional 3D gait analysis while walking normally at a comfortable speed (NW) and when performing an additional congruent (CS) and incongruent (IS) Stroop task. An arm swing symmetry index (ASI)-in which positive values indicate proportionally more movement on the left and vice versa-was calculated. Even in the baseline NW condition, all three subject groups showed larger arm movements on the left. In controls, ASI increased (NW, 13.7 ± 6.3; CS, 16.6 ± 6.4; IS, 19.6 ± 7.8) as the task became more demanding. A larger shift in tSCI patients (NW, 15.8 ± 6.0; CS, 23.4 ± 3.8; IS, 30.7 ± 4.4) was driven by a significant reduction in right wrist trajectory (p = 0.014), whereas cSCI patients showed a small reduction in mean ASI with high variability (NW, 14.2 ± 10.7; CS, 9.3 ± 13.5; IS, 6.0 ± 12.9). The effect of the IS task on ASI compared to baseline (NW) was significantly different between tSCI (+12.5 ± 6.3) and cSCI (-8.2 ± 6.0) patients (p = 0.011). Disruption of the long propriospinal connections coordinating arm and leg movements during walking may explain the heightened sensitivity to manipulation of cognitive load in tSCI, whereas the more robust automaticity in cSCI may be attributed to impaired supraspinal inputs in the context of preserved intraspinal pathways.

Arm and neck pain in ultrasonographers.

Science.gov (United States)

Claes, Frank; Berger, Jan; Stassijns, Gaëtane

2015-03-01

The aim of this study was to evaluate the prevalence of upper-body-quadrant pain among ultrasonographers and to evaluate the association between individual ergonomics, musculoskeletal disorders, and occurrence of neck pain. A hundred and ten (N = 110) Belgian and Dutch male and female hospital ultrasonographers were consecutively enrolled in the study. Data on work-related ergonomic and musculoskeletal disorders were collected with an electronic inquiry, including questions regarding ergonomics (position of the screen, high-low table, and ergonomic chair), symptoms (neck pain, upper-limb pain), and work-related factors (consecutive working hours a day, average working hours a week). Subjects with the screen on their left had significantly more neck pain (odds ratio [OR] = 3.6, p = .0286). Depending on the workspace, high-low tables increased the chance of developing neck pain (OR = 12.9, p = .0246). A screen at eye level caused less neck pain (OR = .22, p = .0610). Employees with a fixed working space were less susceptible to arm pain (OR = 0.13, p = .0058). The prevalence of arm pain was significantly higher for the vascular department compared to radiology, urology, and gynecology departments (OR = 9.2, p = .0278). Regarding prevention of upper-limb pain in ultrasonograph, more attention should be paid to the work environment and more specialty to the ultrasound workstation layout. Primary ergonomic prevention could provide a painless work situation for the ultrasonographer. Further research on the ergonomic conditions of ultrasonography is necessary to develop ergonomic solutions in the work environment that will help to alleviate neck and arm pain. © 2014, Human Factors and Ergonomics Society.

Pilomatrixoma of the Arm: A Rare Case with Cytologic Diagnosis

Directory of Open Access Journals (Sweden)

Ruchika Gupta

2012-01-01

Full Text Available Pilomatrixoma, a benign skin appendageal tumor, is seen commonly in head and neck. Occurrence of pilomatrixoma in the upper extremities is not common and has been reported infrequently in the available literature. Only a few cases with preoperative aspiration cytology have been reported in the literature. A five-year-old girl underwent fine needle aspiration (FNA of a firm subcutaneous nodule on the lateral aspect of left arm. FNA smears showed scattered and few fragments of round to oval cells along with multinucleated giant cells. Few shadow cells were seen. A cytologic impression of pilomatrixoma was rendered, which was confirmed on histopathology. Pilomatrixoma, a common skin appendageal tumor in head and neck region, should be considered in the cytologic differential diagnoses of subcutaneous masses even in unusual locations like arm. The varied cytomorphology should be remembered to avoid misdiagnosis.

The spiral arms of the Milky Way: The relative location of each different arm tracer within a typical spiral arm width

Energy Technology Data Exchange (ETDEWEB)

Vallée, Jacques P., E-mail: jacques.vallee@nrc-cnrc.gc.ca [National Research Council Canada, National Science Infrastructure portfolio, Herzberg Astronomy and Astrophysics, 5071 West Saanich Road, Victoria, B.C., V9E 2E7 (Canada)

2014-07-01

From the Sun's location in the Galactic disk, different arm tracers (CO, H I, hot dust, etc.) have been employed to locate a tangent to each spiral arm. Using all various and different observed spiral arm tracers (as published elsewhere), we embark on a new goal, namely the statistical analysis of these published data (data mining) to statistically compute the mean location of each spiral arm tracer. We show for a typical arm cross-cut, a separation of 400 pc between the mid-arm and the dust lane (at the inner edge of the arm, toward the Galactic center). Are some arms major and others minor? Separating arms into two sets, as suggested by some, we find the same arm widths between the two sets. Our interpretation is that we live in a multiple (four-arm) spiral (logarithmic) pattern (around a pitch angle of 12°) for the stars and gas in the Milky Way, with a sizable interarm separation (around 3 kpc) at the Sun's location and the same arm width for each arm (near 400 pc from mid-arm to dust lane).

The spiral arms of the Milky Way: The relative location of each different arm tracer within a typical spiral arm width

International Nuclear Information System (INIS)

Vallée, Jacques P.

2014-01-01

From the Sun's location in the Galactic disk, different arm tracers (CO, H I, hot dust, etc.) have been employed to locate a tangent to each spiral arm. Using all various and different observed spiral arm tracers (as published elsewhere), we embark on a new goal, namely the statistical analysis of these published data (data mining) to statistically compute the mean location of each spiral arm tracer. We show for a typical arm cross-cut, a separation of 400 pc between the mid-arm and the dust lane (at the inner edge of the arm, toward the Galactic center). Are some arms major and others minor? Separating arms into two sets, as suggested by some, we find the same arm widths between the two sets. Our interpretation is that we live in a multiple (four-arm) spiral (logarithmic) pattern (around a pitch angle of 12°) for the stars and gas in the Milky Way, with a sizable interarm separation (around 3 kpc) at the Sun's location and the same arm width for each arm (near 400 pc from mid-arm to dust lane).

Focal hand dystonia: individualized intervention with repeated application of repetitive transcranial magnetic stimulation.

Science.gov (United States)

Kimberley, Teresa Jacobson; Borich, Michael R; Schmidt, Rebekah L; Carey, James R; Gillick, Bernadette

2015-04-01

To examine for individual factors that may predict response to inhibitory repetitive transcranial magnetic stimulation (rTMS) in focal hand dystonia (FHD); to present the method for determining optimal stimulation to increase inhibition in a given patient; and to examine individual responses to prolonged intervention. Single-subject design to determine optimal parameters to increase inhibition for a given subject and to use the selected parameters once per week for 6 weeks, with 1-week follow-up, to determine response. Clinical research laboratory. A volunteer sample of subjects with FHD (N = 2). One participant had transcranial magnetic stimulation responses indicating impaired inhibition, and the other had responses within normative limits. There were 1200 pulses of 1-Hz rTMS delivered using 4 different stimulation sites/intensity combinations: primary motor cortex at 90% or 110% of resting motor threshold (RMT) and dorsal premotor cortex (PMd) at 90% or 110% of RMT. The parameters producing the greatest within-session increase in cortical silent period (CSP) duration were then used as the intervention. Response variables included handwriting pressure and velocity, subjective symptom rating, CSP, and short latency intracortical inhibition and facilitation. The individual with baseline transcranial magnetic stimulation responses indicating impaired inhibition responded favorably to the repeated intervention, with reduced handwriting force, an increase in the CSP, and subjective report of moderate symptom improvement at 1-week follow-up. The individual with normative baseline responses failed to respond to the intervention. In both subjects, 90% of RMT to the PMd produced the greatest lengthening of the CSP and was used as the intervention. An individualized understanding of neurophysiological measures can be an indicator of responsiveness to inhibitory rTMS in focal dystonia, with further work needed to determine likely responders versus nonresponders. Copyright �

Quetiapine Induced Acute Dystonia in a patient with History of severe Head Injury

Directory of Open Access Journals (Sweden)

Robert G. Bota

2010-01-01

Full Text Available A patient with a history of severe head injury 10 years ago regained ability to walk after years of being bound to a wheelchair. During the last psychiatric hospitalization, quetiapine was increased to therapeutic dose using a normal titration. As a result the patient developed dystonia of multiple muscle groups requiring 4 days of hospitalization for remittance of symptoms. In this paper, we take a close look at the literature concerning extrapiramidal symptoms (EPS in this context, and we suggest that in patients with a history of head injury, it is warranted to consider a slower titration of antipsychotic medications, including ones that are considered having a lower risk of EPS such as quetiapine.

Acute Dystonia in a Child Receiving Metoclopramide: Case Report

Directory of Open Access Journals (Sweden)

Alaaddin Yorulmaz

2016-11-01

Full Text Available Metoclopramide is a benzamide that is a dopamine receptor, often preferred as a prokinetic agent to accelerate gastrointestinal passage in the treatment of gastroesophageal reflux disease; itis also used as an antiemetic agent in many diseases that progress with nausea-vomiting. It is effective on the digestive system both centrally and peripherally. It easily overcomes the blood-brain barrier and may create side effects pertaining to the extrapyramidal system. Acute dystonic reaction is rare among these side effects; it is, however, a condition that needs to be treated urgently. This paper presents a 5-month-old infant patient who developed acute dystonic reaction secondary to the use of Metpamid at a high dose. The diagnosis in this case was made based onpatient history. The patient%u2019s symptoms rapidly disappeared thanks to treatment with diphenhydramine. It should be remembered that metoclopramide may cause side effects in patients presenting to the emergency service with acute dystonia, soa complete history of drugs should definitely be taken for such patients.

THE INFLUENCE OF HANDEDNESS ON THE DISTRIBUTION OF MUSCULAR WEAKNESS OF THE ARM IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

NARCIS (Netherlands)

BROUWER, OF; PADBERG, GW; VANDERPLOEG, RJO; RUYS, CJM; BRAND, R

1992-01-01

The strength of 10 muscle groups in both arms was measured using hand-held myometry to determine the influence of handedness on left-right differences of muscle strength in facioscapulohumeral muscular dystrophy (FSHD). Two groups of subjects were studied: 24 healthy volunteers (19 right-handed),

Rock Moved by Mars Lander Arm, Stereo View

Science.gov (United States)

2008-01-01

The robotic arm on NASA's Phoenix Mars Lander slid a rock out of the way during the mission's 117th Martian day (Sept. 22, 2008) to gain access to soil that had been underneath the rock.The lander's Surface Stereo Imager took the two images for this stereo view later the same day, showing the rock, called 'Headless,' after the arm pushed it about 40 centimeters (16 inches) from its previous location. 'The rock ended up exactly where we intended it to,' said Matt Robinson of NASA's Jet Propulsion Laboratory, robotic arm flight software lead for the Phoenix team. The arm had enlarged the trench near Headless two days earlier in preparation for sliding the rock into the trench. The trench was dug to about 3 centimeters (1.2 inches) deep. The ground surface between the rock's prior position and the lip of the trench had a slope of about 3 degrees downward toward the trench. Headless is about the size and shape of a VHS videotape. The Phoenix science team sought to move the rock in order to study the soil and the depth to subsurface ice underneath where the rock had been. This left-eye and right-eye images for this stereo view were taken at about 12:30 p.m., local solar time on Mars. The scene appears three-dimensional when seen through blue-red glasses.The view is to the north northeast of the lander. The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is by JPL, Pasadena, Calif. Spacecraft development was by Lockheed Martin Space Systems, Denver.

Impact of the Absolute Difference in Diastolic Blood Pressure Between Arms in Patients With Coronary Artery Disease.

Science.gov (United States)

Hitaka, Yuka; Miura, Shin-Ichiro; Koyoshi, Rie; Shiga, Yuhei; Miyase, Yuiko; Norimatsu, Kenji; Nakamura, Ayumi; Adachi, Sen; Kuwano, Takashi; Sugihara, Makoto; Ike, Amane; Nishikawa, Hiroaki; Saku, Keijiro

2015-11-01

We investigated the relationship between the severity and presence of coronary artery disease (CAD) and a difference in systolic and diastolic blood pressure (SBP and DBP) between arms or between lower limbs. We enrolled 277 patients who underwent coronary angiography. We calculated the absolute (|right BP (rt. BP) - left BP (lt. BP)|) and relative (rt. BP - lt. BP) differences in SBP or DBP between arms or between lower limbs, and assessed the severity of CAD in terms of the Gensini score. The absolute difference in DBP between arms in the CAD group was significantly lower than that in the non-CAD group, whereas the absolute difference in DBP between lower limbs in the CAD group was significantly higher. There were no differences in the absolute or relative difference in SBP between arms or lower limbs between the groups. The absolute difference in DBP between arms decreased as the Gensini score increased. In a logistic regression analysis, the presence of CAD was independently associated with the absolute difference in DBP between arms, in addition to male, family history, dyslipidemia, diabetes mellitus and hypertension. The absolute difference in DBP between arms in addition to traditional factors may be a critical risk factor for the presence of CAD.

Influence of arm positioning on tomographic thallium-201 myocardial perfusion imaging and the effect of attenuation correction

International Nuclear Information System (INIS)

Prvulovich, E.M.; Jarritt, P.H.; Vorontsova, E.; Bomanji, J.B.; Ell, P.J.

2000-01-01

Lateral attenuation in single-photon emission tomography (SPET) myocardial perfusion imaging (MPI) has been attributed to the left arm if it is held by the patient's side during data acquisition. As a result MPI data are conventionally acquired with the arms held above the head. The aims of this study were to determine the effect of imaging arms down on reconstructed tomographic images depicting regional myocardial thallium-201 distribution and to assess whether attenuation-corrected (AC) myocardial perfusion images acquired arms down could replace uncorrected (NC) images acquired arms up for routine clinical service. Twenty-eight patients referred for routine MPI underwent sequential 180 emission/transmission imaging for attenuation correction using an L-shaped dual-headed gamma camera (GE Optima) fitted with two gadolinium-153 scanning line sources. Delay data were acquired twice: once supine with the arms up and then supine with the arms down. Detector radius of rotation (ROR) for arms up and arms-down studies was recorded. For each data set, count density was measured in 17 segments of a polar plot and segmental uptake expressed relative to study maximum. Oblique images were assessed qualitatively by two observers blinded to study type for tracer distribution and overall quality. Transmission maps were assessed for truncation. Mean detector ROR was 190 mm for arms-up studies and 232 mm for arms-down studies (P 201 Tl distribution, particularly anterolaterally. There is lateral undercorrection in approximately 10% of AC arms-down studies, possibly because of attenuation map truncation. Image quality is reduced in about one-third of AC arms-down studies compared with NC arms-up studies. These data suggest that this attenuation correction method is not sufficiently robust to allow routine acquisition of MPI data with the arms down. (orig.)

Striatal [[sup 11]C]-N-methyl-spiperone binding in patients with focal dystonia (torticollis) using positron emission tomography

Energy Technology Data Exchange (ETDEWEB)

Leenders, K [Paul Scherrer Inst. (PSI), Villigen (Switzerland); Hartvig, P [Hospital Pharmacy, Univ. Hospital, Uppsala (Sweden); Forsgren, L; Holmgren, G; Almay, B [Dept. of Neurology, Umeaa Univ., Umeaa (Sweden); Eckernaes, S A [Dept. of Neurology, Univ. Hospital, Uppsala (Sweden); Lundqvist, H; Laangstroem, B [Uppsala Univ. PET-Center, Uppsala (Sweden)

1993-01-01

Specific binding of [[sup 11]C]-N-methyl-spiperone to striatal dopamine D2 receptors was assessed using positron emission tomography (PET) in 6 patients with adult-onset focal dystonia (predominantly spasmodic torticollis) and in 5 healthy subjects. No significant difference in average specific striatal tracer uptake between patients and healthy subjects was found. However, in the 5 patients showing lateralisation of clinical signs a trend to higher striatal tracer uptake in the contralateral hemisphere was observed. (authors).

Serial 1H-MRS of thalamus during deep brain stimulation of bilateral globus pallidus internus for primary generalized dystonia

International Nuclear Information System (INIS)

Chernov, Mikhail F.; Iseki, Hiroshi; Takakura, Kintomo; Ochiai, Taku; Taira, Takaomi; Hori, Tomokatsu; Ono, Yuko; Nakamura, Ryoichi; Muragaki, Yoshihiro

2008-01-01

The physiological mechanisms of deep brain stimulation (DBS) are not completely clear. Our understanding of them may be facilitated with the use of proton magnetic resonance spectroscopy ( 1 H-MRS). Serial 1 H-MRS of both thalami was performed during the course of DBS of bilateral globus pallidus internus in a patient with primary generalized dystonia. Two days after microelectrode implantation, a pulse frequency of 185 Hz was applied for stimulation. It resulted in relief of symptoms and a decrease of Burke-Fahn-Marsden dystonia rating scale (BFMDRS) scores, and was accompanied by a prominent increase of N-acetylaspartate (NAA)/choline-containing compounds (Cho) ratio, a mild increase of NAA/creatine (Cr) ratio, and a moderate decrease of Cho/Cr ratio. Two weeks later, for a search of the optimal stimulation mode, the pulse frequency was switched to 60 Hz, which resulted in clinical deterioration and significant increase of BFMDRS scores. At that time, all investigated 1 H-MRS-detected metabolic parameters had nearly returned to the pretreatment levels. Use of serial 1 H-MRS investigations of various brain structures during DBS in cases of movement disorders permits detailed evaluation of the treatment response, has a potential for its possible prediction, and may facilitate understanding of the physiological mechanisms of stimulation. (orig.)

Combined short-arm centrifuge and aerobic exercise training improves cardiovascular function and physical working capacity in humans.

Science.gov (United States)

Yang, Chang-Bin; Zhang, Shu; Zhang, Yu; Wang, Bing; Yao, Yong-Jie; Wang, Yong-Chun; Wu, Yan-Hong; Liang, Wen-Bin; Sun, Xi-Qing

2010-12-01

Musculoskeletal and cardiovascular deconditioning occurring in long-term spaceflight gives rise to the needs to develop new strategies to counteract these adverse effects. Short-arm centrifuge combined with ergometer has been proposed as a strategy to counteract adverse effects of microgravity. This study sought to investigate whether the combination of short-arm centrifuge and aerobic exercise training have advantages over short-arm centrifuge or aerobic exercise training alone. One week training was conducted by 24 healthy men. They were randomly divided into 3 groups: (1) short-arm centrifuge training, (2) aerobic exercise training, 40 W, and (3) combined short-arm centrifuge and aerobic exercise training. Before and after training, the cardiac pump function represented by stroke volume, cardiac output, left ventricular ejection time, and total peripheral resistance was evaluated. Variability of heart rate and systolic blood pressure were determined by spectral analysis. Physical working capacity was surveyed by near maximal physical working capacity test. The 1-week combined short-arm centrifuge and aerobic exercise training remarkably ameliorated the cardiac pump function and enhanced vasomotor sympathetic nerve modulation and improved physical working capacity by 10.9% (Pcentrifuge nor the aerobic exercise group showed improvements in these functions. These results demonstrate that combined short-arm centrifuge and aerobic exercise training has advantages over short-arm centrifuge or aerobic exercise training alone in influencing several physiologically important cardiovascular functions in humans. The combination of short-arm centrifuge and aerobic exercise offers a promising countermeasure to microgravity.

Isolated effects of peripheral arm and central body cooling on arm performance.

Science.gov (United States)

Giesbrecht, G G; Wu, M P; White, M D; Johnston, C E; Bristow, G K

1995-10-01

Whole body cooling impairs manual arm performance. The independent contributions of local (peripheral) and/or whole body (central) cooling are not known. Therefore, a protocol was developed in which the arm and the rest of the body could be independently cooled. Biceps temperature (Tmus), at a depth of 20 mm, and esophageal temperature (Tes) were measured. Six subjects were immersed to the clavicles in a tank (body tank) of water under 3 conditions: 1) cold body-cold arm (CB-CA); 2) warm body-cold arm (WB-CA); and 3) cold body-warm arm (CB-WA). In the latter two conditions, subjects placed their dominant arm in a separate (arm) tank. Water temperature (Tw) in each tank was independently controlled. In conditions requiring cold body and/or cold arm, Tw in the appropriate tanks was 8 degrees C. In conditions requiring warm body and/or warm arm, Tw in the appropriate tanks was adjusted between 29 and 38 degrees C to maintain body/arm temperature at baseline values. A battery of 6 tests, requiring fine or gross motor movements, were performed immediately before immersion and after 15, 45, and 70 minutes of immersion. In CB-CA, Tes decreased from an average of 37.2 to 35.6 degrees C and Tmus decreased from 34.6 to 22.0 degrees C. In WB-CA, Tmus decreased to 18.1 degrees C (Tes = 37.1 degrees C), and in CB-WA, Tes decreased to 35.8 degrees C (Tmus = 34.5 degrees C). By the end of immersion, there were significant decrements (43-85%) in the performance of all tests in CB-CA and WB-CA (p body and/or the arm elicits large decrements in finger, hand and arm performance. The decrements are due almost entirely to the local effects of arm tissue cooling.

Increased insula-putamen connectivity in X-linked dystonia-parkinsonism

Directory of Open Access Journals (Sweden)

Anne J. Blood

2018-01-01

Full Text Available Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP suggests tissue loss may occur first and/or most severely in the striatal striosome compartment, followed later by cell loss in the matrix compartment. However, little is known about how this relates to pathogenesis and pathophysiology. While MRI cannot visualize these striatal compartments directly in humans, differences in relative gradients of afferent cortical connectivity across compartments (weighted toward paralimbic versus sensorimotor cortex, respectively can be used to infer potential selective loss in vivo. In the current study we evaluated relative connectivity of paralimbic versus sensorimotor cortex with the caudate and putamen in 17 individuals with XDP and 17 matched controls. Although caudate and putamen volumes were reduced in XDP, there were no significant reductions in either “matrix-weighted”, or “striosome-weighted” connectivity. In fact, paralimbic connectivity with the putamen was elevated, rather than reduced, in XDP. This was driven most strongly by elevated putamen connectivity with the anterior insula. There was no relationship of these findings to disease duration or striatal volume, suggesting insula and/or paralimbic connectivity in XDP may develop abnormally and/or increase in the years before symptom onset.

A multiparous woman with lately diagnosed multilevel left ventricular obstruction

International Nuclear Information System (INIS)

Rahman, M. N.; Gul, I.; Nabi, A.

2017-01-01

A 56-year hypertensive, multiparous woman presented to the cardiology unit with Canadian Cardiovascular Society (CCS) class-III angina and worsening dyspnea for the past few weeks. Her clinical examination showed high blood pressure and mid-systolic crescendo-decrescendo murmur radiating to carotids. However, there was no radio-femoral delay or significant blood pressure difference between her arms. Her transthoracic echocardiography (TTE) revealed moderate aortic stenosis (AS) and mid cavity left ventricular outflow (LVO) obstruction. Left heart catheterization (LHC) showed coarctation of aorta with extensive collaterals, mid cavity LVO obstruction, and moderate AS. Thus, she was diagnosed as a case of multi-level LVO obstruction including mid cavity LVO obstruction AS and coarctation of aorta. She underwent stenting of aortic coarctation as the initial step of graded approach to her disease, and is doing well. (author)

Have Third-World Arms Industries Reduced Arms Imports?

OpenAIRE

Looney, R.E.

1989-01-01

Current Research on Peace and Violence, no. 1, 1989. Refereed Journal Article In 1945 only Argentina, Brazil, India and South Africa in the Third World possessed domestic arms industries which produced weapons systems other than small arms and ammunition (SIPRI, 1987, 76).

Palilalia, echolalia, and echopraxia-palipraxia as ictal manifestations in a patient with left frontal lobe epilepsy.

Science.gov (United States)

Cho, Yang-Je; Han, Sang-Don; Song, Sook Keun; Lee, Byung In; Heo, Kyoung

2009-06-01

Palilalia is a relatively rare pathologic speech behavior and has been reported in various neurologic and psychiatric disorders. We encountered a case of palilalia, echolalia, and echopraxia-palipraxia as ictal phenomena of left frontal lobe epilepsy. A 55-year-old, right-handed man was admitted because of frequent episodes of rapid reiteration of syllables. Video-electroencephalography monitoring revealed stereotypical episodes of palilalia accompanied by rhythmic head nodding and right-arm posturing with ictal discharges over the left frontocentral area. He also displayed echolalia or echopraxia-palipraxia, partially responding to an examiner's stimulus. Magnetic resonance imaging revealed encephalomalacia on the left superior frontal gyrus and ictal single photon emission computed tomography showed hyperperfusion just above the lesion, corresponding to the left supplementary motor area (SMA), and subcortical nuclei. This result suggests that the neuroanatomic substrate involved in the generation of these behaviors as ictal phenomena might exist in the SMA of the left frontal lobe.

Simultaneous blood pressure measurement in both arms in hypertensive and nonhypertensive adult patients.

Science.gov (United States)

Fonseca-Reyes, Salvador; Forsyth-MacQuarrie, Avril M; García de Alba-García, Javier Eduardo

2012-08-01

When blood pressure (BP) is taken for the first time, it should be measured in both arms; follow-up measurements should be taken in the arm with the highest BP. However, in clinical practice, this recommendation is rarely followed. Identify the degree of differences in BP between the right and the left arm in individuals with normal and high BP. We measured BP in 111 hypertensive and 80 normotensive patients in both arms at the same time using identical Omron HEM 725 CIC automatic sphygmomanometers. The devices were then switched to the other arm and another set of readings was taken. The absolute and relative difference in BP between arms was calculated from the average of these two readings. We categorized differences as at least 5, at least 10, and at least 20 mmHg for systolic blood pressure/diastolic blood pressure (SBP/DBP). The BP was higher in the right arm, with no statistical significance. The relative differences were also not significant: SBP 1.1±7.1 and DBP 0.21±5.0. However, the absolute differences were significant at an individual level, with a systolic difference of 5.4±4.8 mmHg and a diastolic difference of 3.9 ±3.2 mmHg. The percentages of absolute SBP/DBP differences more than 5 mmHg (21.4%/20.4%) and more than 10 mmHg (15.7%/4.7%) were considerable. The range of arm differences was clinically significant; in hypertensives, the SBP/DBP was -13.2 to +15/-9.2 to +9.6 mmHg and in nonhypertensives it was -12.9 to +15.6/-9.7 to +10.1 mmHg. Although on average there was no clinically significant relative difference between arms, absolute differences at an individual level were often clinically significant. Failure to determine interarm BP differences will lead to erroneous clinical decisions.

Arm Pain

Science.gov (United States)

... be a sign of a heart attack. Seek emergency treatment if you have: Arm, shoulder or back ... http://www.mayoclinic.org/symptoms/arm-pain/basics/definition/SYM-20050870 . Mayo Clinic Footer Legal Conditions and ...

Current status of cannabis treatment of multiple sclerosis with an illustrative case presentation of a patient with MS, complex vocal tics, paroxysmal dystonia, and marijuana dependence treated with dronabinol.

Science.gov (United States)

Deutsch, Stephen I; Rosse, Richard B; Connor, Julie M; Burket, Jessica A; Murphy, Mary E; Fox, Fiona J

2008-05-01

Pain, spasticity, tremor, spasms, poor sleep quality, and bladder and bowel dysfunction, among other symptoms, contribute significantly to the disability and impaired quality of life of many patients with multiple sclerosis (MS). Motor symptoms referable to the basal ganglia, especially paroxysmal dystonia, occur rarely and contribute to the experience of distress. A substantial percentage of patients with MS report subjective benefit from what is often illicit abuse of extracts of the Cannabis sativa plant; the main cannabinoids include delta-9-tetrahydrocannabinol (delta9-THC) and cannabidiol. Clinical trials of cannabis plant extracts and synthetic delta9-THC provide support for therapeutic benefit on at least some patient self-report measures. An illustrative case is presented of a 52-year-old woman with MS, paroxysmal dystonia, complex vocal tics, and marijuana dependence. The patient was started on an empirical trial of dronabinol, an encapsulated form of synthetic delta9-THC that is usually prescribed as an adjunctive medication for patients undergoing cancer chemotherapy. The patient reported a dramatic reduction of craving and illicit use; she did not experience the "high" on the prescribed medication. She also reported an improvement in the quality of her sleep with diminished awakenings during the night, decreased vocalizations, and the tension associated with their emission, decreased anxiety and a decreased frequency of paroxysmal dystonia.

Analyzing surface EMG signals to determine relationship between jaw imbalance and arm strength loss

Directory of Open Access Journals (Sweden)

Truong Quang Dang Khoa

2012-08-01

Full Text Available Abstract Background This study investigated the relationship between dental occlusion and arm strength; in particular, the imbalance in the jaw can cause loss in arm strength phenomenon. One of the goals of this study was to record the maximum forces that the subjects can resist against the pull-down force on their hands while biting a spacer of adjustable height on the right or left side of the jaw. Then EMG measurement was used to determine the EMG-Force relationship of the jaw, neck and arms muscles. This gave us useful insights on the arms strength loss due to the biomechanical effects of the imbalance in the jaw mechanism. Methods In this study to determine the effects of the imbalance in the jaw to the strength of the arms, we conducted experiments with a pool of 20 healthy subjects of both genders. The subjects were asked to resist a pull down force applied on the contralateral arm while biting on a firm spacer using one side of the jaw. Four different muscles – masseter muscles, deltoid muscles, bicep muscles and trapezoid muscles – were involved. Integrated EMG (iEMG and Higuchi fractal dimension (HFD were used to analyze the EMG signals. Results The results showed that (1 Imbalance in the jaw causes loss of arm strength contra-laterally; (2 The loss is approximately a linear function of the height of the spacers. Moreover, the iEMG showed the intensity of muscle activities decreased when the degrees of jaw imbalance increased (spacer thickness increased. In addition, the tendency of Higuchi fractal dimension decreased for all muscles. Conclusions This finding indicates that muscle fatigue and the decrease in muscle contraction level leads to the loss of arm strength.

[Acute Dystonia due to Aripiprazole Use in Two Children with Autism Spectrum Disorder in the First Five Years of Life].

Science.gov (United States)

Küçükköse, Mustafa; Kabukçu Başay, Bürge

2017-01-01

Autism spectrum disorders (ASD) are neuropsychiatric disorders characterized by impairment in social interactions, in verbal and non-verbal communication, and restricted and stereotyped patterns of interest and behavior within the first 3 years of life. Pharmacologic interventions may be needed for the treatment of temper tantrums, aggression, hyperactivity, and stereotypes in children with ASD. The approval of aripiprazole by the United States Food and Drug Administration (USFDA) for the treatment of temper tantrums in children and adolescents with ASD has gained increased interest for the use in these patients. Aripiprazole is a partial agonist for the dopamine D2, serotonin 5-HT1A receptors, and an antagonist for 5HT2A receptors. Because aripiprazole is a partial agonist, it has been is speculated that aripiprazole has a protective effect for extrapyramidal side effects, movement disorders, and metabolic problems. But the increased use in children and adolescents is associated with an increase in the number of case reports related with such problems. Nevertheless, our review of the literature uncovered limited data regarding the association between acute dystonia and aripiprazole use in ASD children under five years of age is. In this paper, we present two cases of autistic spectrum disorder children with ages under 5 years that developed acute dystonia taking aripiprazole.

Association of Inter-Arm Systolic Blood Pressure Difference with Coronary Atherosclerotic Disease Burden Using Calcium Scoring.

Science.gov (United States)

Her, Ae Young; Cho, Kyoung Im; Garg, Scot; Kim, Yong Hoon; Shin, Eun Seok

2017-09-01

There are no sufficient data on the correlation between inter-arm blood pressure (BP) difference and coronary atherosclerosis found using coronary artery calcium score (CACS). We aimed to investigate if the increased difference in inter-arm BP is independently associated with severity of CACS. Patients who had ≥3 cardiovascular risk factors or an intermediate Framingham Risk Score (FRS; ≥10) were enrolled. Inter-arm BP difference was defined as the absolute difference in BP in both arms. Quantitative CACS was measured by using coronary computed tomography angiography with the scoring system. A total of 261 patients were included in this study. Age (r=0.256, parm systolic BP (SBP; r=0.172, p=0.005), mean of left arm SBP (r=0.190, p=0.002), inter-arm SBP difference (r=0.152, p=0.014), and the FRS (r=0.278, parm SBP difference (≥6 mm Hg) was significantly associated with CACS ≥300 [odds ratio (OR) 2.17, 95% confidence interval (CI) 1.12-4.22; p=0.022]. In multivariable analysis, the inter-arm SBP difference ≥6 mm Hg was also significantly associated with CACS ≥300 after adjusting for clinical risk factors (OR 2.34, 95 % CI 1.06-5.19; p=0.036). An increased inter-arm SBP difference (≥6 mm Hg) is associated with coronary atherosclerotic disease burden using CACS, and provides additional information for predicting severe coronary calcification, compared to models based on traditional risk factors. © Copyright: Yonsei University College of Medicine 2017

Precursor B-cell lymphoblastic leukemia of the arm mimicking neurogenic tumor: case report

Directory of Open Access Journals (Sweden)

Sui Xiu-fang

2012-07-01

Full Text Available Abstract Precursor B-cell lymphoblastic lymphoma (PBLL is an infrequent subtype of lymphoblastic lymphoma (LBL that commonly affected site for the diagnosis is the skin, followed by the head and neck. In this report, we presented a special case of PBLL located at the left arm and detected with magnetic resonance imaging (MRI and ultrasonography (US. This kind of PBLL is similar to a peripheral nerve tumor in clinical and radiographic manifestation.

Comparing endophenotypes in adult-onset primary torsion dystonia.

LENUS (Irish Health Repository)

Bradley, David

2012-02-01

Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21%) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41%) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.

Electromechanical and robot-assisted arm training for improving activities of daily living, arm function, and arm muscle strength after stroke.

Science.gov (United States)

Mehrholz, Jan; Pohl, Marcus; Platz, Thomas; Kugler, Joachim; Elsner, Bernhard

2015-11-07

Electromechanical and robot-assisted arm training devices are used in rehabilitation, and may help to improve arm function after stroke. To assess the effectiveness of electromechanical and robot-assisted arm training for improving activities of daily living, arm function, and arm muscle strength in people after stroke. We also assessed the acceptability and safety of the therapy. We searched the Cochrane Stroke Group's Trials Register (last searched February 2015), the Cochrane Central Register of Controlled Trials (CENTRAL) (the Cochrane Library 2015, Issue 3), MEDLINE (1950 to March 2015), EMBASE (1980 to March 2015), CINAHL (1982 to March 2015), AMED (1985 to March 2015), SPORTDiscus (1949 to March 2015), PEDro (searched April 2015), Compendex (1972 to March 2015), and Inspec (1969 to March 2015). We also handsearched relevant conference proceedings, searched trials and research registers, checked reference lists, and contacted trialists, experts, and researchers in our field, as well as manufacturers of commercial devices. Randomised controlled trials comparing electromechanical and robot-assisted arm training for recovery of arm function with other rehabilitation or placebo interventions, or no treatment, for people after stroke. Two review authors independently selected trials for inclusion, assessed trial quality and risk of bias, and extracted data. We contacted trialists for additional information. We analysed the results as standardised mean differences (SMDs) for continuous variables and risk differences (RDs) for dichotomous variables. We included 34 trials (involving 1160 participants) in this update of our review. Electromechanical and robot-assisted arm training improved activities of daily living scores (SMD 0.37, 95% confidence interval (CI) 0.11 to 0.64, P = 0.005, I² = 62%), arm function (SMD 0.35, 95% CI 0.18 to 0.51, P arm muscle strength (SMD 0.36, 95% CI 0.01 to 0.70, P = 0.04, I² = 72%), but the quality of the evidence was low to very low

ARM Airborne Carbon Measurements (ARM-ACME) and ARM-ACME 2.5 Final Campaign Reports

Energy Technology Data Exchange (ETDEWEB)

Biraud, S. C. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Tom, M. S. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Sweeney, C. [NOAA Earth Systems Research Lab., Boulder, CO (United States)

2016-01-01

We report on a 5-year multi-institution and multi-agency airborne study of atmospheric composition and carbon cycling at the Atmospheric Radiation Measurement (ARM) Climate Research Facility’s Southern Great Plains (SGP) site, with scientific objectives that are central to the carbon-cycle and radiative-forcing goals of the U.S. Global Change Research Program and the North American Carbon Program (NACP). The goal of these measurements is to improve understanding of 1) the carbon exchange of the Atmospheric Radiation Measurement (ARM) SGP region; 2) how CO₂ and associated water and energy fluxes influence radiative-forcing, convective processes, and CO₂ concentrations over the ARM SGP region, and 3) how greenhouse gases are transported on continental scales.

Powered manipulator control arm

International Nuclear Information System (INIS)

Le Mouee, Theodore; Vertut, Jean; Marchal, Paul; Germon, J.C.; Petit, Michel

1975-01-01

A remote operated control arm for powered manipulators is described. It includes an assembly allowing several movements with position sensors for each movement. The number of possible arm movements equals the number of possible manipulator movements. The control systems may be interrupted as required. One part of the arm is fitted with a system to lock it with respect to another part of the arm without affecting the other movements, so long as the positions of the manipulator and the arm have not been brought into complete coincidence. With this system the locking can be ended when complete concordance is achieved [fr

Impaired arm development after Blalock-Taussig shunts in adults with repaired tetralogy of Fallot.

Science.gov (United States)

Le Gloan, Laurianne; Marcotte, François; Leduc, Hugues; Mercier, Lise-Andrée; Dore, Annie; Mongeon, François-Pierre; Ibrahim, Reda; Miro, Joaquim; Asgar, Anita; Poirier, Nancy; Khairy, Paul

2013-09-30

Many adults with repaired tetralogy of Fallot have had prior Blalock-Taussig shunts. These shunts may theoretically hinder growth and development of the ipsilateral arm. We prospectively enrolled consecutive patients with tetralogy of Fallot in a cross-sectional study to measure arm length and assess handgrip strength. Bilateral handgrip strength was quantified by a dynamometer in a standing position after instructing patients to clench each hand tightly in succession. The maximum force achieved, in kilograms, was measured. A total of 80 consecutive adults with tetralogy of Fallot, aged 36.0 ± 12.5 years, 49% female, were prospectively enrolled. Thirty-eight (47.5%) patients had prior Blalock-Taussig shunts at a median age of 1.0 year. Twenty-one (55.3%) were left-sided and 23 (60.5%) were classic shunts. All but six patients with right-sided shunts and one without a prior shunt were right-handed. The shunts were present for a median of 4.0 years prior to takedown during corrective surgery. The arm ipsilateral to the shunt was significantly shorter than the contralateral arm (71.5 ± 6.1 versus 73.6 ± 5.6 cm, Ptetralogy of Fallot, Blalock-Taussig shunts may impair normal development of the ipsilateral arm with repercussions in adulthood that include shorter limb length and reduced handgrip strength. These changes are most pronounced in patients with classic end-to-side anastomoses. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

ARM Airborne Carbon Measurements VI (ARM-ACME VI) Field Campaign Report

Energy Technology Data Exchange (ETDEWEB)

Biraud, Sebastien [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)

2017-05-01

From October 1, 2015 through September 30, 2016, AAF deployed a Cessna 206 aircraft over the Southern Great Plains, collecting observations of trace gas mixing ratios over the ARM/SGP Central Facility. The aircraft payload included two Atmospheric Observing Systems (AOS Inc.) analyzers for continuous measurements of CO2, and a 12-flask sampler for analysis of carbon cycle gases (CO2, CO, CH4, N2O, 13CO2). The aircraft payload also includes solar/infrared radiation measurements. This research (supported by DOE ARM and TES programs) builds upon previous ARM-ACME missions. The goal of these measurements is to improve understanding of: (a) the carbon exchange of the ARM region; (b) how CO2 and associated water and energy fluxes influence radiative forcing, convective processes, and CO2 concentrations over the ARM region, and (c) how greenhouse gases are transported on continental scales.

ARM Mentor Selection Process

Energy Technology Data Exchange (ETDEWEB)

Sisterson, D. L. [Argonne National Lab. (ANL), Argonne, IL (United States)

2015-10-01

The Atmospheric Radiation Measurement (ARM) Program was created in 1989 with funding from the U.S. Department of Energy (DOE) to develop several highly instrumented ground stations to study cloud formation processes and their influence on radiative transfer. In 2003, the ARM Program became a national scientific user facility, known as the ARM Climate Research Facility. This scientific infrastructure provides for fixed sites, mobile facilities, an aerial facility, and a data archive available for use by scientists worldwide through the ARM Climate Research Facility—a scientific user facility. The ARM Climate Research Facility currently operates more than 300 instrument systems that provide ground-based observations of the atmospheric column. To keep ARM at the forefront of climate observations, the ARM infrastructure depends heavily on instrument scientists and engineers, also known as lead mentors. Lead mentors must have an excellent understanding of in situ and remote-sensing instrumentation theory and operation and have comprehensive knowledge of critical scale-dependent atmospheric processes. They must also possess the technical and analytical skills to develop new data retrievals that provide innovative approaches for creating research-quality data sets. The ARM Climate Research Facility is seeking the best overall qualified candidate who can fulfill lead mentor requirements in a timely manner.

The arms race control

International Nuclear Information System (INIS)

Nemo, J.

2010-01-01

Written in 1961, this paper presents the content of a book entitled 'The arms race control' where the author outlined the difference between disarmament and arms control, described the economic and moral role of arms race, the importance of force balance for international security. He wandered whether arms control could ensure this balance and whether nuclear balance meant force balance. Force balance then appears to be a precarious and unsteady component of international security. He commented the challenges of disarmament, recalled some arguments for a nuclear disarmament. Then he discussed what would be an arms control with or without disarmament (either nuclear or conventional)

How do octopuses use their arms?

Science.gov (United States)

Mather, J A

1998-09-01

A taxonomy of the movement patterns of the 8 flexible arms of octopuses is constructed. Components consist of movements of the arm itself, the ventral suckers and their stalks, as well as the relative position of arms and the skin web between them. Within 1 arm, combinations of components result in a variety of behaviors. At the level of all arms, 1 group of behaviors is described as postures, on the basis of the spread of all arms and the web to make a 2-dimensional surface whose position differs in the 3rd dimension. Another group of arm behaviors is actions, more or less coordinated and involving several to all arms. Arm control appears to be based on radial symmetry, relative equipotentiality of all arms, relative independence of each arm, and separability of components within the arm. The types and coordination of arm behaviors are discussed with relationship to biomechanical limits, muscle structures, and neuronal programming.

CyARM: Haptic Sensing Device for Spatial Localization on Basis of Exploration by Arms

Directory of Open Access Journals (Sweden)

Junichi Akita

2009-01-01

Full Text Available We introduce a new type of perception aid device based on user's exploration action, which is named as CyARM (acronym of “Cyber Arm”. The user holds this device in her/his arm, the extension of the arm is controlled by tension in wires, which are attached to her/his body according to the distance to the object. This user interface has unique characteristics that give users the illusion of an imaginary arm that extends to existing objects. The implementations of CyARM and our two experiments to investigate the efficiency and effectiveness of CyARM are described. The results show that we could confirm that CyARM can be used to recognize the presence of an object in front of the user and to measure the relative distance to the object.

AbobotulinumtoxinA in the management of cervical dystonia in the United Kingdom: a budget impact analysis

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Abogunrin S

2015-09-01

Full Text Available Seye Abogunrin,1 Sarah Brand,2 Kamal Desai,3 Jerome Dinet,4 Sylvie Gabriel,5 Timothy Harrower61Meta Research, Evidera, London, UK; 2Health Economics, Evidera, Bethesda, MD, USA; 3Health Economics, Evidera, London, UK; 4Health Economics and Outcomes Research (Global, 5Global Market Access and Pricing, Ipsen Pharma, Boulogne-Billancourt, France; 6Royal Devon and Exeter NHS Foundation Trust, Exeter, UKBackground: Cervical dystonia (CD can be effectively managed by a combination of botulinum neurotoxin A (BoNT-A and conventional therapy (skeletal muscle relaxants and rehabilitative therapy, but the costs of different interventions in the UK vary.Methods: A budget impact model was developed from the UK payer perspective with a 5-year time horizon to evaluate the effects of changing market shares of abobotulinumtoxinA, nabotulinumtoxinA, and incobotulinumtoxinA, and best supportive care from the UK payer perspective. Epidemiological and resource use data were retrieved from the published literature and clinical expert opinion. Deterministic sensitivity analyses were performed to determine the parameters most influential on the budgetary findings under base case assumptions.Results: Under base case assumptions, an increased uptake of abobotulinumtoxinA showed an accumulated savings of £2,250,992 by year 5. Treatment per patient per year with onabotulinumtoxinA and incobotulinumtoxinA costs more when compared to treatment with abobotulinumtoxinA. One-way sensitivity analyses showed that the prevalence of CD, dose per injection of each of the BoNT-As, and time to reinjection of incobotulinumtoxinA and abobotulinumtoxinA influenced the base case findings most.Conclusion: There is potential for cost savings associated with the greater use of abobotulinumtoxinA rather than other BoNT-A treatments, permitting more patients to benefit more from effective BoNT-A treatment with a fixed budget. Keywords: cervical dystonia, torticollis, botulinum toxin A, budget

Repetitive transcranial magnetic stimulation in cervical dystonia: effect of site and repetition in a randomized pilot trial.

Directory of Open Access Journals (Sweden)

Sarah Pirio Richardson

Full Text Available Dystonia is characterized by abnormal posturing due to sustained muscle contraction, which leads to pain and significant disability. New therapeutic targets are needed in this disorder. The objective of this randomized, sham-controlled, blinded exploratory study is to identify a specific motor system target for non-invasive neuromodulation and to evaluate this target in terms of safety and tolerability in the cervical dystonia (CD population. Eight CD subjects were given 15-minute sessions of low-frequency (0.2 Hz repetitive transcranial magnetic stimulation (rTMS over the primary motor cortex (MC, dorsal premotor cortex (dPM, supplementary motor area (SMA, anterior cingulate cortex (ACC and a sham condition with each session separated by at least two days. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS score was rated in a blinded fashion immediately pre- and post-intervention. Secondary outcomes included physiology and tolerability ratings. The mean change in TWSTRS severity score by site was 0.25 ± 1.7 (ACC, -2.9 ± 3.4 (dPM, -3.0 ± 4.8 (MC, -0.5 ± 1.1 (SHAM, and -1.5 ± 3.2 (SMA with negative numbers indicating improvement in symptom control. TWSTRS scores decreased from Session 1 (15.1 ± 5.1 to Session 5 (11.0 ± 7.6. The treatment was tolerable and safe. Physiology data were acquired on 6 of 8 subjects and showed no change over time. These results suggest rTMS can modulate CD symptoms. Both dPM and MC are areas to be targeted in further rTMS studies. The improvement in TWSTRS scores over time with multiple rTMS sessions deserves further evaluation.

Magnetic spiral arms in galaxy haloes

Science.gov (United States)

Henriksen, R. N.

2017-08-01

We seek the conditions for a steady mean field galactic dynamo. The parameter set is reduced to those appearing in the α2 and α/ω dynamo, namely velocity amplitudes, and the ratio of sub-scale helicity to diffusivity. The parameters can be allowed to vary on conical spirals. We analyse the mean field dynamo equations in terms of scale invariant logarithmic spiral modes and special exact solutions. Compatible scale invariant gravitational spiral arms are introduced and illustrated in an appendix, but the detailed dynamical interaction with the magnetic field is left for another work. As a result of planar magnetic spirals `lifting' into the halo, multiple sign changes in average rotation measures forming a regular pattern on each side of the galactic minor axis, are predicted. Such changes have recently been detected in the Continuum Halos in Nearby Galaxies-an EVLA Survey (CHANG-ES) survey.

Sirenomelia associated with Hypoplastic Left Heart in a Newborn.

Science.gov (United States)

Turgut, H; Ozdemir, R; Gokce, I K; Karakurt, C; Karadag, A

2017-06-30

Sirenomelia, also known as "mermaid malformation/syndrome," is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks' gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate. The arms were in adduction and wrist in flexion position with four fingers on the right hand and two fingers on the left hand. There was a single lower extremity with a webbed single foot and two toes consistent with sirenomelia type IV radiologically. Abdominal ultrasonography showed urogenital system agenesis and echocardiography detected hypoplastic left heart. However, the patient died 4 hours after birth. The other twin was followed for 1 week for nutrition and respiratory support and was then discharged without any problems.

Sirenomelia associated with hypoplastic left heart in a newborn

Directory of Open Access Journals (Sweden)

Turgut H

2017-06-01

Full Text Available Sirenomelia, also known as “mermaid malformation/syndrome,” is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks’ gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate. The arms were in adduction and wrist in flexion position with four fingers on the right hand and two fingers on the left hand. There was a single lower extremity with a webbed single foot and two toes consistent with sirenomelia type IV radiologically. Abdominal ultrasonography showed urogenital system agenesis and echocardiography detected hypoplastic left heart. However, the patient died 4 hours after birth. The other twin was followed for 1 week for nutrition and respiratory support and was then discharged without any problems.

Right-sided aortic arch with anomalous origin of the left subclavian artery: Case report

Directory of Open Access Journals (Sweden)

Vučurević Goran

2011-01-01

Full Text Available Introduction. A right-sided aortic arch is a rare congenital defect of the aorta with incidence of 0.05% to 0.1% reported in published series. Usually it is associated with congenital heart anomalies and esophageal and tracheal compression symptoms. We present a case of a right-sided aortic arch of anomalous left subclavian artery origin, accidentally revealed during multislice CT (MSCT supraaortic branches angiography. Case Outline. A 53-year-old female patient was examined at the Outpatients’ Unit of the Vascular Surgery University Clinic for vertigo, occasional dizziness and difficulty with swallowing. Physical examination revealed a murmur of the left supraclavicular space, with 15 mmHg lower rate of arterial tension on the left arm. Ultrasound of carotid arteries revealed 60% stenosis of the left subclavian artery and bilateral internal carotid artery elongation. MSCT angiography revealed a right-sided aortic arch with aberrant separation of the left subclavian artery that was narrowed 50%, while internal carotid arteries were marginally elongated. There was no need for surgical treatment or percutaneous interventions, so that conservative treatment was indicated. Conclusion. A right-sided aortic arch is a very rare anomaly of the location and branching of the aorta. Multislice CT angiography is of great importance in the diagnostics of this rare disease.

A Pilot Study: Comparison of Arm Versus Ankle Noninvasive Blood Pressure Measurement at 2 Different Levels of Backrest Elevation.

Science.gov (United States)

Henley, Nicole; Quatrara, Beth D; Conaway, Mark

2015-01-01

Standard practice for obtaining noninvasive blood pressure includes arm blood pressure (BP) cuff placement at the level of the heart; however, some critical care patients cannot have BPs taken in their arm because of various conditions, and ankle BPs are frequently used as substitutes. The aim of this study was to determine if there was a significant variation between upper arm and ankle BP measurements at different backrest elevations with consideration of peripheral edema factors. After institutional review board approval was obtained, a pilot study was implemented to evaluate noninvasive BP measurements of the arm and ankle with backrest elevation at 0° and 30° in a population of medical intensive care unit patients. Participants served as their own controls and were randomly assigned to left- versus right-side BP readings. Data were also collected on presence of arm versus ankle edema. A total of 30 participants enrolled in the study and provided 120 BP measurements. Blood pressure readings were analyzed in terms of diastolic and systolic findings as well as backrest elevations and edema presence. Thirteen participants presented with either arm or ankle edema. There was a statistical difference between the systolic arm and ankle BP measurements in the 0° (P = .008) and 30° (P arm and ankle diastolic BP is greater for participants without ankle edema (P = .038, r = 0.54) than for participants with ankle edema (P = .650, r = 0.14), but it is not statistically significant (P = .47). Even though ankle BPs are often substituted for arm BPs when the arm is unable to be used, ankle BPs and arm BPs are not interchangeable. Adjustments in backrest elevation and considerations of edema do not normalize the differences. Blood pressures obtained from the ankle are significantly greater than those obtained from the arm. This information needs to be considered when arms are not available and legs are used as surrogates for the upper arm.

Follow-up findings in regional cerebral blood flow (r-CBF)-SPECT in a case of idiopathic childhood hemidystonia. Functional neuroimaging and pathophysiological implications

Energy Technology Data Exchange (ETDEWEB)

Fiedler, A.; Aderbauer, J.; Segerer, H. [St. Hedwig Hospital, Regensburg (Germany). Dept. of Pediatrics; Marienhagen, J.; Bock, E.; Eilles, C. [Univ. Hospital, Regensburg (Germany). Dept. of Nuclear Medicine

1999-05-01

A 9 1/2-year-old girl suffered from intermitting tremor and jitteriness of her left hand and oral muscles every 4 to 6 weeks with long lasting episodes. Clinically myoclonias and dystonic positioning of the left arm, hand and facial muscles were seen. No evidence of trauma, infection or inborn errors of metabolism was found. Successful therapy with carbamazepine was initiated while L-DOPA failed. An ictal 99m-Tc-HMPAO-SPECT showed severe asymmetry with focal hyperperfusion of the contralateral right thalamus and basal ganglia as well as of the bifrontal cortex, whereas no anatomical lesions were found by MRI. In contrast, an interictally performed 99m-Tc-HMPAO SPECT showed hypoperfusion or the right thalamus and normalisation of the frontal perfusion under medical treatment. These 99m-Tc-HMPAO-SPECT findings may provide new insights into the localisation and pathophysiological pathways of idiopathic childhood dystonia. (orig.) [Deutsch] Ein 9 1/2jaehriges Maedchen litt an rezidivierenden, langdauernden Schueben von Tremor und Zittern der linken Hand und der perioralen Muskulatur links. Klinisch fanden sich eine dystone Haltung des linken Armes und unerschoepfliche Myoklonien des Armes, der Hand und der Gesichtsmuskulatur links. Trauma, Infektion oder ein Stoffwechseldefekt als Ursache lagen nicht vor. Ein Therapieversuch mit L-DOPA war erfolglos. Unter Gabe von Carbamazepin wurde Beschwerdefreiheit bleibend erreicht. Ein iktuales 99m-Tc-HMPAO-SPECT zeigte eine fokale Hyperperfusion des rechtsseitigen Thalamus und der Basalganglien, sowie des bifrontalen Kortex. Ein interiktuales 99m-Tc-HMPAOSPECT ergab dann eine deutliche Hypoperfusion des rechtseitigen Thalamus bei normalisierter Perfusion des bifrontalen Kortex. Eine kranielle Magnetresonanztomographie (MRI) ergab einen unauffaelligen Befund. Der Vergleich der iktualen und interiktualen Perfusionsverhaeltnisse weist auf neue pathophysiologische Zusammenhaenge bei idiopathischer kindlicher Dystonie hin. (orig.)

Armed conflict and child health.

Science.gov (United States)

Rieder, Michael; Choonara, Imti

2012-01-01

Armed conflict has a major impact on child health throughout the world. One in six children worldwide lives in an area of armed conflict and civilians are more likely to die than soldiers as a result of the conflict. In stark contrast to the effect on children, the international arms trade results in huge profits for the large corporations involved in producing arms, weapons and munitions. Armed conflict is not inevitable but is an important health issue that should be prevented.

Hello to Arms

Science.gov (United States)

2005-01-01

This image highlights the hidden spiral arms (blue) that were discovered around the nearby galaxy NGC 4625 by the ultraviolet eyes of NASA's Galaxy Evolution Explorer. The image is composed of ultraviolet and visible-light data, from the Galaxy Evolution Explorer and the California Institute of Technology's Digitized Sky Survey, respectively. Near-ultraviolet light is colored green; far-ultraviolet light is colored blue; and optical light is colored red. As the image demonstrates, the lengthy spiral arms are nearly invisible when viewed in optical light while bright in ultraviolet. This is because they are bustling with hot, newborn stars that radiate primarily ultraviolet light. The youthful arms are also very long, stretching out to a distance four times the size of the galaxy's core. They are part of the largest ultraviolet galactic disk discovered so far. Located 31 million light-years away in the constellation Canes Venatici, NGC 4625 is the closest galaxy ever seen with such a young halo of arms. It is slightly smaller than our Milky Way, both in size and mass. However, the fact that this galaxy's disk is forming stars very actively suggests that it might evolve into a more massive and mature galaxy resembling our own. The armless companion galaxy seen below NGC 4625 is called NGC 4618. Astronomers do not know why it lacks arms but speculate that it may have triggered the development of arms in NGC 4625.

Visual Display of 5p-arm and 3p-arm miRNA Expression with a Mobile Application.

Science.gov (United States)

Pan, Chao-Yu; Kuo, Wei-Ting; Chiu, Chien-Yuan; Lin, Wen-Chang

2017-01-01

MicroRNAs (miRNAs) play important roles in human cancers. In previous studies, we have demonstrated that both 5p-arm and 3p-arm of mature miRNAs could be expressed from the same precursor and we further interrogated the 5p-arm and 3p-arm miRNA expression with a comprehensive arm feature annotation list. To assist biologists to visualize the differential 5p-arm and 3p-arm miRNA expression patterns, we utilized a user-friendly mobile App to display. The Cancer Genome Atlas (TCGA) miRNA-Seq expression information. We have collected over 4,500 miRNA-Seq datasets from 15 TCGA cancer types and further processed them with the 5p-arm and 3p-arm annotation analysis pipeline. In order to be displayed with the RNA-Seq Viewer App, annotated 5p-arm and 3p-arm miRNA expression information and miRNA gene loci information were converted into SQLite tables. In this distinct application, for any given miRNA gene, 5p-arm miRNA is illustrated on the top of chromosome ideogram and 3p-arm miRNA is illustrated on the bottom of chromosome ideogram. Users can then easily interrogate the differentially 5p-arm/3p-arm expressed miRNAs with their mobile devices. This study demonstrates the feasibility and utility of RNA-Seq Viewer App in addition to mRNA-Seq data visualization.

Visual Display of 5p-arm and 3p-arm miRNA Expression with a Mobile Application

Directory of Open Access Journals (Sweden)

Chao-Yu Pan

2017-01-01

Full Text Available MicroRNAs (miRNAs play important roles in human cancers. In previous studies, we have demonstrated that both 5p-arm and 3p-arm of mature miRNAs could be expressed from the same precursor and we further interrogated the 5p-arm and 3p-arm miRNA expression with a comprehensive arm feature annotation list. To assist biologists to visualize the differential 5p-arm and 3p-arm miRNA expression patterns, we utilized a user-friendly mobile App to display. The Cancer Genome Atlas (TCGA miRNA-Seq expression information. We have collected over 4,500 miRNA-Seq datasets from 15 TCGA cancer types and further processed them with the 5p-arm and 3p-arm annotation analysis pipeline. In order to be displayed with the RNA-Seq Viewer App, annotated 5p-arm and 3p-arm miRNA expression information and miRNA gene loci information were converted into SQLite tables. In this distinct application, for any given miRNA gene, 5p-arm miRNA is illustrated on the top of chromosome ideogram and 3p-arm miRNA is illustrated on the bottom of chromosome ideogram. Users can then easily interrogate the differentially 5p-arm/3p-arm expressed miRNAs with their mobile devices. This study demonstrates the feasibility and utility of RNA-Seq Viewer App in addition to mRNA-Seq data visualization.

Sensory-Feedback Exoskeletal Arm Controller

Science.gov (United States)

An, Bin; Massie, Thomas H.; Vayner, Vladimir

2004-01-01

An electromechanical exoskeletal arm apparatus has been designed for use in controlling a remote robotic manipulator arm. The apparatus, called a force-feedback exoskeleton arm master (F-EAM) is comfortable to wear and easy to don and doff. It provides control signals from the wearer s arm to a robot arm or a computer simulator (e.g., a virtual-reality system); it also provides force and torque feedback from sensors on the robot arm or from the computer simulator to the wearer s arm. The F-EAM enables the wearer to make the robot arm gently touch objects and finely manipulate them without exerting excessive forces. The F-EAM features a lightweight design in which the motors and gear heads that generate force and torque feedback are made smaller than they ordinarily would be: this is achieved by driving the motors to power levels greater than would ordinarily be used in order to obtain higher torques, and by providing active liquid cooling of the motors to prevent overheating at the high drive levels. The F-EAM (see figure) includes an assembly that resembles a backpack and is worn like a backpack, plus an exoskeletal arm mechanism. The FEAM has five degrees of freedom (DOFs) that correspond to those of the human arm: 1. The first DOF is that of the side-to-side rotation of the upper arm about the shoulder (rotation about axis 1). The reflected torque for this DOF is provided by motor 1 via drum 1 and a planar four-bar linkage. 2. The second DOF is that of the up-and-down rotation of the arm about the shoulder. The reflected torque for this DOF is provided by motor 2 via drum 2. 3. The third DOF is that of twisting of the upper arm about its longitudinal axis. This DOF is implemented in a cable remote-center mechanism (CRCM). The reflected torque for this DOF is provided by motor 3, which drives the upper-arm cuff and the mechanism below it. A bladder inflatable by gas or liquid is placed between the cuff and the wearer s upper arm to compensate for misalignment

Unequal-Arms Michelson Interferometers

Science.gov (United States)

Tinto, Massimo; Armstrong, J. W.

2000-01-01

Michelson interferometers allow phase measurements many orders of magnitude below the phase stability of the laser light injected into their two almost equal-length arms. If, however, the two arms are unequal, the laser fluctuations can not be removed by simply recombining the two beams. This is because the laser jitters experience different time delays in the two arms, and therefore can not cancel at the photo detector. We present here a method for achieving exact laser noise cancellation, even in an unequal-arm interferometer. The method presented in this paper requires a separate readout of the relative phase in each arm, made by interfering the returning beam in each arm with a fraction of the outgoing beam. By linearly combining the two data sets with themselves, after they have been properly time shifted, we show that it is possible to construct a new data set that is free of laser fluctuations. An application of this technique to future planned space-based laser interferometer detector3 of gravitational radiation is discussed.

Right-Left Approach and Reaching Arm Movements of 4-Month Infants in Free and Constrained Conditions

Science.gov (United States)

Morange-Majoux, Francoise; Dellatolas, Georges

2010-01-01

Recent theories on the evolution of language (e.g. Corballis, 2009) emphazise the interest of early manifestations of manual laterality and manual specialization in human infants. In the present study, left- and right-hand movements towards a midline object were observed in 24 infants aged 4 months in a constrained condition, in which the hands…

The role of left supplementary motor area in grip force scaling.

Directory of Open Access Journals (Sweden)

Olivier White

Full Text Available Skilled tool use and object manipulation critically relies on the ability to scale anticipatorily the grip force (GF in relation to object dynamics. This predictive behaviour entails that the nervous system is able to store, and then select, the appropriate internal representation of common object dynamics, allowing GF to be applied in parallel with the arm motor commands. Although psychophysical studies have provided strong evidence supporting the existence of internal representations of object dynamics, known as "internal models", their neural correlates are still debated. Because functional neuroimaging studies have repeatedly designated the supplementary motor area (SMA as a possible candidate involved in internal model implementation, we used repetitive transcranial magnetic stimulation (rTMS to interfere with the normal functioning of left or right SMA in healthy participants performing a grip-lift task with either hand. TMS applied over the left, but not right, SMA yielded an increase in both GF and GF rate, irrespective of the hand used to perform the task, and only when TMS was delivered 130-180 ms before the fingers contacted the object. We also found that both left and right SMA rTMS led to a decrease in preload phase durations for contralateral hand movements. The present study suggests that left SMA is a crucial node in the network processing the internal representation of object dynamics although further experiments are required to rule out that TMS does not affect the GF gain. The present finding also further substantiates the left hemisphere dominance in scaling GF.

Armed conflict and child health

OpenAIRE

Rieder, Michael; Choonara, Imti

2012-01-01

Armed conflict has a major impact on child health\\ud throughout the world. One in six children worldwide lives\\ud in an area of armed conflict and civilians are more likely\\ud to die than soldiers as a result of the conflict. In stark\\ud contrast to the effect on children, the international arms\\ud trade results in huge profits for the large corporations\\ud involved in producing arms, weapons and munitions.\\ud Armed conflict is not inevitable but is an important\\ud health issue that should be...

Development of a 3D immersive videogame to improve arm-postural coordination in patients with TBI

Directory of Open Access Journals (Sweden)

Cassavaugh Nicholas D

2011-10-01

Full Text Available Abstract Background Traumatic brain injury (TBI disrupts the central and executive mechanisms of arm(s and postural (trunk and legs coordination. To address these issues, we developed a 3D immersive videogame-- Octopus. The game was developed using the basic principles of videogame design and previous experience of using videogames for rehabilitation of patients with acquired brain injuries. Unlike many other custom-designed virtual environments, Octopus included an actual gaming component with a system of multiple rewards, making the game challenging, competitive, motivating and fun. Effect of a short-term practice with the Octopus game on arm-postural coordination in patients with TBI was tested. Methods The game was developed using WorldViz Vizard software, integrated with the Qualysis system for motion analysis. Avatars of the participant's hands precisely reproducing the real-time kinematic patterns were synchronized with the simulated environment, presented in the first person 3D view on an 82-inch DLP screen. 13 individuals with mild-to-moderate manifestations of TBI participated in the study. While standing in front of the screen, the participants interacted with a computer-generated environment by popping bubbles blown by the Octopus. The bubbles followed a specific trajectory. Interception of the bubbles with the left or right hand avatar allowed flexible use of the postural segments for balance maintenance and arm transport. All participants practiced ten 90-s gaming trials during a single session, followed by a retention test. Arm-postural coordination was analysed using principal component analysis. Results As a result of the short-term practice, the participants improved in game performance, arm movement time, and precision. Improvements were achieved mostly by adapting efficient arm-postural coordination strategies. Of the 13 participants, 10 showed an immediate increase in arm forward reach and single-leg stance time. Conclusion

Development of a 3D immersive videogame to improve arm-postural coordination in patients with TBI.

Science.gov (United States)

Ustinova, Ksenia I; Leonard, Wesley A; Cassavaugh, Nicholas D; Ingersoll, Christopher D

2011-10-31

Traumatic brain injury (TBI) disrupts the central and executive mechanisms of arm(s) and postural (trunk and legs) coordination. To address these issues, we developed a 3D immersive videogame--Octopus. The game was developed using the basic principles of videogame design and previous experience of using videogames for rehabilitation of patients with acquired brain injuries. Unlike many other custom-designed virtual environments, Octopus included an actual gaming component with a system of multiple rewards, making the game challenging, competitive, motivating and fun. Effect of a short-term practice with the Octopus game on arm-postural coordination in patients with TBI was tested. The game was developed using WorldViz Vizard software, integrated with the Qualysis system for motion analysis. Avatars of the participant's hands precisely reproducing the real-time kinematic patterns were synchronized with the simulated environment, presented in the first person 3D view on an 82-inch DLP screen. 13 individuals with mild-to-moderate manifestations of TBI participated in the study. While standing in front of the screen, the participants interacted with a computer-generated environment by popping bubbles blown by the Octopus. The bubbles followed a specific trajectory. Interception of the bubbles with the left or right hand avatar allowed flexible use of the postural segments for balance maintenance and arm transport. All participants practiced ten 90-s gaming trials during a single session, followed by a retention test. Arm-postural coordination was analysed using principal component analysis. As a result of the short-term practice, the participants improved in game performance, arm movement time, and precision. Improvements were achieved mostly by adapting efficient arm-postural coordination strategies. Of the 13 participants, 10 showed an immediate increase in arm forward reach and single-leg stance time. These results support the feasibility of using the custom-made 3D

The perception of peripersonal space in right and left brain damage hemiplegic patients

Directory of Open Access Journals (Sweden)

Angela eBartolo

2014-01-01

Full Text Available Peripersonal space, as opposed to extrapersonal space, is the space that contains reachable objects and in which multisensory and sensorimotor integration is enhanced. Thus, the perception of peripersonal space requires combining information on the spatial properties of the environment with information on the current capacity to act. In support of this, recent studies have provided converging evidences that perceiving objects in peripersonal space activates a neural network overlapping with that subtending voluntary motor action and motor imagery. Other studies have also underlined the dominant role of the right hemisphere in motor planning and of the left hemisphere in on-line motor guiding, respectively. In the present study, we investigated the effect of a right or left hemiplegia in the perception of peripersonal space. 16 hemiplegic patients with brain damage to the left (LH or right (RH hemisphere and 8 matched healthy controls (HC performed a colour discrimination, a motor imagery and a reachability judgment task. Analyses of response times and accuracy revealed no variation among the three groups in the colour discrimination task, suggesting the absence of any specific perceptual or decisional deficits in the patient groups. In contrast, the patient groups revealed longer response times in the motor imagery task when performed in reference to the hemiplegic arm (RH and LH or to the healthy arm (RH. Moreover, RH group showed longer response times in the reachability judgement task, but only for stimuli located at the boundary of peripersonal space, which was furthermore significantly reduced in size. Considered together, these results confirm the crucial role of the motor system in motor imagery task and the perception of peripersonal space. They also revealed that right hemisphere damage has a more detrimental effect on reachability estimates, suggesting that motor planning processes contribute specifically to the perception of

Performance of arm locking in LISA

International Nuclear Information System (INIS)

McKenzie, Kirk; Spero, Robert E.; Shaddock, Daniel A.

2009-01-01

For the Laser Interferometer Space Antenna (LISA) to reach its design sensitivity, the coupling of the free-running laser frequency noise to the signal readout must be reduced by more than 14 orders of magnitude. One technique employed to reduce the laser frequency noise will be arm locking, where the laser frequency is locked to the LISA arm length. In this paper we detail an implementation of arm locking. We investigate orbital effects (changing arm lengths and Doppler frequencies), the impact of errors in the Doppler knowledge that can cause pulling of the laser frequency, and the noise limit of arm locking. Laser frequency pulling is examined in two regimes: at lock acquisition and in steady state. The noise performance of arm locking is calculated with the inclusion of the dominant expected noise sources: ultrastable oscillator (clock) noise, spacecraft motion, and shot noise. We find that clock noise and spacecraft motion limit the performance of dual arm locking in the LISA science band. Studying these issues reveals that although dual arm locking [A. Sutton and D. A. Shaddock, Phys. Rev. D 78, 082001 (2008)] has advantages over single (or common) arm locking in terms of allowing high gain, it has disadvantages in both laser frequency pulling and noise performance. We address this by proposing a modification to the dual arm-locking sensor, a hybrid of common and dual arm-locking sensors. This modified dual arm-locking sensor has the laser frequency pulling characteristics and low-frequency noise coupling of common arm locking, but retains the control system advantages of dual arm locking. We present a detailed design of an arm-locking controller and perform an analysis of the expected performance when used with and without laser prestabilization. We observe that the sensor phase changes beneficially near unity-gain frequencies of the arm-locking controller, allowing a factor of 10 more gain than previously believed, without degrading stability. With a time

Design of a multi-arm randomized clinical trial with no control arm.

Science.gov (United States)

Magaret, Amalia; Angus, Derek C; Adhikari, Neill K J; Banura, Patrick; Kissoon, Niranjan; Lawler, James V; Jacob, Shevin T

2016-01-01

Clinical trial designs that include multiple treatments are currently limited to those that perform pairwise comparisons of each investigational treatment to a single control. However, there are settings, such as the recent Ebola outbreak, in which no treatment has been demonstrated to be effective; and therefore, no standard of care exists which would serve as an appropriate control. For illustrative purposes, we focused on the care of patients presenting in austere settings with critically ill 'sepsis-like' syndromes. Our approach involves a novel algorithm for comparing mortality among arms without requiring a single fixed control. The algorithm allows poorly-performing arms to be dropped during interim analyses. Consequently, the study may be completed earlier than planned. We used simulation to determine operating characteristics for the trial and to estimate the required sample size. We present a potential study design targeting a minimal effect size of a 23% relative reduction in mortality between any pair of arms. Using estimated power and spurious significance rates from the simulated scenarios, we show that such a trial would require 2550 participants. Over a range of scenarios, our study has 80 to 99% power to select the optimal treatment. Using a fixed control design, if the control arm is least efficacious, 640 subjects would be enrolled into the least efficacious arm, while our algorithm would enroll between 170 and 430. This simulation method can be easily extended to other settings or other binary outcomes. Early dropping of arms is efficient and ethical when conducting clinical trials with multiple arms. Copyright © 2015 Elsevier Inc. All rights reserved.

Imaging insights into basal ganglia function, Parkinson's disease, and dystonia.

Science.gov (United States)

Stoessl, A Jon; Lehericy, Stephane; Strafella, Antonio P

2014-08-09

Recent advances in structural and functional imaging have greatly improved our ability to assess normal functions of the basal ganglia, diagnose parkinsonian syndromes, understand the pathophysiology of parkinsonism and other movement disorders, and detect and monitor disease progression. Radionuclide imaging is the best way to detect and monitor dopamine deficiency, and will probably continue to be the best biomarker for assessment of the effects of disease-modifying therapies. However, advances in magnetic resonance enable the separation of patients with Parkinson's disease from healthy controls, and show great promise for differentiation between Parkinson's disease and other akinetic-rigid syndromes. Radionuclide imaging is useful to show the dopaminergic basis for both motor and behavioural complications of Parkinson's disease and its treatment, and alterations in non-dopaminergic systems. Both PET and MRI can be used to study patterns of functional connectivity in the brain, which is disrupted in Parkinson's disease and in association with its complications, and in other basal-ganglia disorders such as dystonia, in which an anatomical substrate is not otherwise apparent. Functional imaging is increasingly used to assess underlying pathological processes such as neuroinflammation and abnormal protein deposition. This imaging is another promising approach to assess the effects of treatments designed to slow disease progression. Copyright © 2014 Elsevier Ltd. All rights reserved.

Nonspecific Arm Pain

Directory of Open Access Journals (Sweden)

Ali Moradi

2013-12-01

Full Text Available Nonspecific activity-related arm pain is characterized by an absence of objective physical findings and symptoms that do not correspond with objective pathophysiology. Arm pain without strict diagnosis is often related to activity, work-related activity in particular, and is often seen in patients with physically demanding work. Psychological factors such as catastrophic thinking, symptoms of depression, and heightened illness concern determine a substantial percentage of the disability associated with puzzling hand and arm pains. Ergonomic modifications can help to control symptoms, but optimal health may require collaborative management incorporating psychosocial and psychological elements of illness.

Nonspecific Arm Pain

Directory of Open Access Journals (Sweden)

Ali Moradi

2013-12-01

Full Text Available   Nonspecific activity-related arm pain is characterized by an absence of objective physical findings and symptoms that do not correspond with objective pathophysiology. Arm pain without strict diagnosis is often related to activity, work-related activity in particular, and is often seen in patients with physically demanding work. Psychological factors such as catastrophic thinking, symptoms of depression, and heightened illness concern determine a substantial percentage of the disability associated with puzzling hand and arm pains. Ergonomic modifications can help to control symptoms, but optimal health may require collaborative management incorporating psychosocial and psychological elements of illness.

Arms control and disarmament

International Nuclear Information System (INIS)

Acton, P.

1992-01-01

Article VI of the Non-Proliferation Treaty commits each party to work towards nuclear disarmament and to negotiations to stop the nuclear arms race. All parties to the Treaty are included and a wide range of arms control and disarmament issues are covered. However the main focus at Treaty review conferences has been on nuclear disarmament by the nuclear weapon states which are party to the Treaty. This has led to bilateral United States - Soviet Union negotiations resulting in the Intermediate-range Nuclear Forces Treaty in December 1987 and the Strategic Arms Reduction Treaty (START) in July followed by unilateral arms control measures in September and October 1991. (UK)

Clustered metabolic abnormalities blunt regression of hypertensive left ventricular hypertrophy: the LIFE study

DEFF Research Database (Denmark)

de Simone, G; Okin, P M; Gerdts, E

2009-01-01

BACKGROUND AND AIMS: Clusters of metabolic abnormalities resembling phenotypes of metabolic syndrome predicted outcome in the LIFE study, independently of single risk markers, including obesity, diabetes and baseline ECG left ventricular hypertrophy (LVH). We examined whether clusters of two......-duration product (CP) over 5 years was assessed using a quadratic polynomial contrast, adjusting for age, sex, prevalent cardiovascular disease and treatment arm (losartan or atenolol). At baseline, despite similar blood pressures, CP was greater in the presence than in the absence of MetAb (p

The musculature of coleoid cephalopod arms and tentacles

Directory of Open Access Journals (Sweden)

William McKee Kier

2016-02-01

Full Text Available The regeneration of coleoid cephalopod arms and tentacles is a common occurrence, recognized since Aristotle. The complexity of the arrangement of the muscle and connective tissues of these appendages make them of great interest for research on regeneration. They lack rigid skeletal elements and consist of a three-dimensional array of muscle fibers, relying on a type of skeletal support system called a muscular hydrostat. Support and movement in the arms and tentacles depends on the fact that muscle tissue resists volume change. The basic principle of function is straightforward; because the volume of the appendage is essentially constant, a decrease in one dimension must result in an increase in another dimension. Since the muscle fibers are arranged in three mutually perpendicular directions, all three dimensions can be actively controlled and thus a remarkable diversity of movements and deformations can be produced. In the arms and tentacles of coleoids, three main muscle orientations are observed: 1 transverse muscle fibers arranged in planes perpendicular to the longitudinal axis; 2 longitudinal muscle fibers typically arranged in bundles parallel to the longitudinal axis; and 3 helical or obliquely arranged layers of muscle fibers, arranged in both right- and left-handed helixes. By selective activation of these muscle groups, elongation, shortening, bending, torsion and stiffening of the appendage can be produced. The predominant muscle fiber type is obliquely striated. Cross-striated fibers are found only in the transverse muscle mass of the prey capture tentacles of squid and cuttlefish. These fibers have unusually short myofilaments and sarcomeres, generating the high shortening velocity required for rapid elongation of the tentacles. It is likely that coleoid cephalopods use ultrastructural modifications rather than tissue-specific myosin isoforms to tune contraction velocities.

Palliative Sedation and What Constitutes Active Dying: A Case of Severe Progressive Dystonia and Intractable Pain.

Science.gov (United States)

Strand, Jacob J; Feely, Molly A; Kramer, Neha M; Moeschler, Susan M; Swetz, Keith M

2016-05-01

We present the case of a 34-year-old woman with Klippel-Feil syndrome who developed progressive generalized dystonia of unclear etiology, resulting in intractable pain despite aggressive medical and surgical interventions. Ultimately, palliative sedation was required to relieve suffering. Herein, we describe ethical considerations including defining sedation, determining prognosis in the setting of an undefined neurodegenerative condition, and use of treatments that concurrently might prolong or alter end-of-life trajectory. We highlight pertinent literature and how it may be applied in challenging and unique clinical situations. Finally, we discuss the need for expert multidisciplinary involvement when implementing palliative sedation and illustrate that procedures and rules need to be interpreted to deliver optimal patient-centered plan of care. © The Author(s) 2014.

Non-compact left ventricle/hypertrabeculated left ventricle

International Nuclear Information System (INIS)

Restrepo, Gustavo; Castano, Rafael; Marmol, Alejandro

2005-01-01

Non-compact left ventricle/hypertrabeculated left ventricle is a myocardiopatie produced by an arrest of the normal left ventricular compaction process during the early embryogenesis. It is associated to cardiac anomalies (congenital cardiopaties) as well as to extracardial conditions (neurological, facial, hematologic, cutaneous, skeletal and endocrinological anomalies). This entity is frequently unnoticed, being diagnosed only in centers with great experience in the diagnosis and treatment of myocardiopathies. Many cases of non-compact left ventricle have been initially misdiagnosed as hypertrophic myocardiopatie, endocardial fibroelastosis, dilated cardiomyopatie, restrictive cardiomyopathy and endocardial fibrosis. It is reported the case of a 74 years old man with a history of chronic arterial hypertension and diabetes mellitus, prechordial chest pain and mild dyspnoea. An echocardiogram showed signs of non-compact left ventricle with prominent trabeculations and deep inter-trabecular recesses involving left ventricular apical segment and extending to the lateral and inferior walls. Literature on this topic is reviewed

Safety effects of traffic signing for left turn flashing yellow arrow signals.

Science.gov (United States)

Schattler, Kerrie L; Gulla, Cody J; Wallenfang, Travis J; Burdett, Beau A; Lund, Jessica A

2015-02-01

In 2010, the left turn flashing yellow arrow (FYA) signal displays were installed at signalized intersections on state routes in the Peoria, Illinois, area. Supplemental traffic signs with text "Left Turn Yield on Flashing Yellow Arrow" were mounted on the mast arm adjacent to the left turn signal at over half of the FYA installations. The purpose of this paper is to present the results of the effectiveness evaluation of the FYA supplemental sign on safety. Analyses are presented on the effects of the FYA supplemental sign for all drivers and a subset of drivers age 65 and older. A crash-based comparison of 164 FYA approaches including 90 approaches with the sign and 74 approaches without the sign showed greater crash reductions when the supplemental FYA sign was present. The results also showed that crashes involving drivers age 65 and older did not experience the same magnitudes of crash reductions as compared to all drivers. The findings of this research indicate that supplemental FYA signs may help in improving safety for left-turning vehicles during the permissive interval. Thus, it is recommended that supplemental signs be used when initially implementing the FYA, and that effort to educate the driving public on new traffic control be made to further improve safety at signalized intersections. Copyright © 2014. Published by Elsevier Ltd.

Deep Arm/Ear-ECG Image Learning for Highly Wearable Biometric Human Identification.

Science.gov (United States)

Zhang, Qingxue; Zhou, Dian

2018-01-01

In this study, to advance smart health applications which have increasing security/privacy requirements, we propose a novel highly wearable ECG-based user identification system, empowered by both non-standard convenient ECG lead configurations and deep learning techniques. Specifically, to achieve a super wearability, we suggest situating all the ECG electrodes on the left upper-arm, or behind the ears, and successfully obtain weak but distinguishable ECG waveforms. Afterwards, to identify individuals from weak ECG, we further present a two-stage framework, including ECG imaging and deep feature learning/identification. In the former stage, the ECG heartbeats are projected to a 2D state space, to reveal heartbeats' trajectory behaviors and produce 2D images by a split-then-hit method. In the second stage, a convolutional neural network is introduced to automatically learn the intricate patterns directly from the ECG image representations without heavy feature engineering, and then perform user identification. Experimental results on two acquired datasets using our wearable prototype, show a promising identification rate of 98.4% (single-arm-ECG) and 91.1% (ear-ECG), respectively. To the best of our knowledge, it is the first study on the feasibility of using single-arm-ECG/ear-ECG for user identification purpose, which is expected to contribute to pervasive ECG-based user identification in smart health applications.

Phoenix Robotic Arm's Workspace After 90 Sols

Science.gov (United States)

2008-01-01

During the first 90 Martian days, or sols, after its May 25, 2008, landing on an arctic plain of Mars, NASA's Phoenix Mars Lander dug several trenches in the workspace reachable with the lander's robotic arm. The lander's Surface Stereo Imager camera recorded this view of the workspace on Sol 90, early afternoon local Mars time (overnight Aug. 25 to Aug. 26, 2008). The shadow of the the camera itself, atop its mast, is just left of the center of the image and roughly a third of a meter (one foot) wide. The workspace is on the north side of the lander. The trench just to the right of center is called 'Neverland.' The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is by NASA's Jet Propulsion Laboratory, Pasadena, Calif. Spacecraft development is by Lockheed Martin Space Systems, Denver.

Left regular bands of groups of left quotients

International Nuclear Information System (INIS)

El-Qallali, A.

1988-10-01

A semigroup S which has a left regular band of groups as a semigroup of left quotients is shown to be the semigroup which is a left regular band of right reversible cancellative semigroups. An alternative characterization is provided by using spinned products. These results are applied to the case where S is a superabundant whose set of idempotents forms a left normal band. (author). 13 refs

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

Science.gov (United States)

Leshinsky-Silver, Esther; Shuvalov, Ruslan; Inbar, Shani; Cohen, Sarit; Lev, Dorit; Lerman-Sagie, Tally

2011-04-01

An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.

[THE EFFECTIVENESS OF THE MODERN IMMUNOACTIVE PREPARATION IMMUNOFAN FOR MEDICAL REHABILITATION OF PATIENTS WITH NONALCOHOLIC STEATOHEPATITISIS AGAINST NEUROCIRCULATORY DYSTONIA, AFTER INFECTIOUS MONONUCLEOSIS].

Science.gov (United States)

Yugan, Y L; Sotskaya, Y A; Chabarova, A B

2015-01-01

The presence of the expressed changes of cellular immunity, namely T-lymphopenia, disbalance of subpopulation structure of T-lymphocytes with primary downstroke T-helpers/inductor (CD4+), decrease immunoregulatory index CD4/CD8, and functional activity of T-cells is characteristic for the patients with nonalcoholic steatohepatitis, against neurocirculatory dystonia, after infectious mononucleosis. Including in a medical rehabilitation of such patients immunofan promoted practically full correction of the revealed infringements on the part of a cellular link of immunity.

Understanding the conventional arms trade

Science.gov (United States)

Stohl, Rachel

2017-11-01

The global conventional arms trade is worth tens of billions of dollars every year and is engaged in by every country in the world. Yet, it is often difficult to control the legal trade in conventional arms and there is a thriving illicit market, willing to arm unscrupulous regimes and nefarious non-state actors. This chapter examines the international conventional arms trade, the range of tools that have been used to control it, and challenges to these international regimes.

Student measurement of blood pressure using a simulator arm compared with a live subject's arm.

Science.gov (United States)

Lee, Jennifer J; Sobieraj, Diana M; Kuti, Effie L

2010-06-15

To compare accuracy of blood pressure measurements using a live subject and a simulator arm, and to determine students' preferences regarding measurement. This was a crossover study comparing blood pressure measurements from a live subject and a simulator arm. Students completed an anonymous survey instrument defining opinions on ease of measurement. Fifty-seven students completed blood pressure measurements on live subjects while 72 students completed blood pressure measurements using the simulator arm. There were no significant systematic differences between the 2 measurement techniques. Systolic blood pressure measurements from a live subject arm were less likely to be within 4 mm Hg compared with measurements of a simulator arm. Diastolic blood pressure measurements were not significantly different between the 2 techniques. Accuracy of student measurement of blood pressure using a simulator arm was similar to the accuracy with a live subject. There was no difference in students' preferences regarding measurement techniques.

Borehole tool outrigger arm displacement control mechanism

International Nuclear Information System (INIS)

Lee, A.G.

1985-01-01

As the outrigger arms of a borehole logging tool are flexed inwardly and outwardly according to the diameter of the borehole opening through which they pass, the corresponding axial displacements of the ends of the arms are controlled to determine the axial positions of the arms relative to the tool. Specifically, as the arm ends move, they are caused to rotate by a cam mechanism. The stiffness of the arms causes the arm ends to rotate in unison, and the exact positions of the arms on the tool are then controlled by the differential movements of the arm ends in the cams

Nonparetic arm force does not overinhibit the paretic arm in chronic poststroke hemiparesis.

Science.gov (United States)

Dimyan, Michael A; Perez, Monica A; Auh, Sungyoung; Tarula, Erick; Wilson, Matthew; Cohen, Leonardo G

2014-05-01

To determine whether nonparetic arm force overinhibits the paretic arm in patients with chronic unilateral poststroke hemiparesis. Case-control neurophysiological and behavioral study of patients with chronic stroke. Research institution. Eighty-six referred patients were screened to enroll 9 participants (N=9) with a >6 month history of 1 unilateral ischemic infarct that resulted in arm hemiparesis with residual ability to produce 1Nm of wrist flexion torque and without contraindication to transcranial magnetic stimulation. Eight age- and handedness-matched healthy volunteers without neurologic diagnosis were studied for comparison. Not applicable. Change in interhemispheric inhibition targeting the ipsilesional primary motor cortex (M1) during nonparetic arm force. We hypothesized that interhemispheric inhibition would increase more in healthy controls than in patients with hemiparesis. Healthy age-matched controls had significantly greater increases in inhibition from their active to resting M1 than patients with stroke from their active contralesional to resting ipsilesional M1 in the same scenario (20%±7% vs -1%±4%, F1,12=6.61, P=.025). Patients with greater increases in contralesional to ipsilesional inhibition were better performers on the 9-hole peg test of paretic arm function. Our findings reveal that producing force with the nonparetic arm does not necessarily overinhibit the paretic arm. Though our study is limited in generalizability by the small sample size, we found that greater active contralesional to resting ipsilesional M1 inhibition was related with better recovery in this subset of patients with chronic poststroke. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

The Cervical Dystonia Impact Profile (CDIP-58: Can a Rasch developed patient reported outcome measure satisfy traditional psychometric criteria?

Directory of Open Access Journals (Sweden)

Bhatia Kailash P

2008-08-01

Full Text Available Abstract Background The United States Food and Drug Administration (FDA are currently producing guidelines for the scientific adequacy of patient reported outcome measures (PROMs in clinical trials, which will have implications for the selection of scales used in future clinical trials. In this study, we examine how the Cervical Dystonia Impact Profile (CDIP-58, a rigorous Rasch measurement developed neurologic PROM, stands up to traditional psychometric criteria for three reasons: 1 provide traditional psychometric evidence for the CDIP-58 in line with proposed FDA guidelines; 2 enable researchers and clinicians to compare it with existing dystonia PROMs; and 3 help researchers and clinicians bridge the knowledge gap between old and new methods of reliability and validity testing. Methods We evaluated traditional psychometric properties of data quality, scaling assumptions, targeting, reliability and validity in a group of 391 people with CD. The main outcome measures used were the CDIP-58, Medical Outcome Study Short Form-36, the 28-item General Health Questionnaire, and Hospital and Anxiety and Depression Scale. Results A total of 391 people returned completed questionnaires (corrected response rate 87%. Analyses showed: 1 data quality was high (low missing data ≤ 4%, subscale scores could be computed for > 96% of the sample; 2 item groupings passed tests for scaling assumptions; 3 good targeting (except for the Sleep subscale, ceiling effect = 27%; 4 good reliability (Cronbach's alpha ≥ 0.92, test-retest intraclass correlations ≥ 0.83; and 5 validity was supported. Conclusion This study has shown that new psychometric methods can produce a PROM that stands up to traditional criteria and supports the clinical advantages of Rasch analysis.

Nature of galaxy spiral arms

International Nuclear Information System (INIS)

Efremov, Yu.N.

1984-01-01

The nature of galaxy spiral arms is discussed in a popular form. Two approaches in the theory of spiral arms are considered; they are related to the problem of differential galaxy rotation and the spiral structure wave theory. The example of Galaxy M31 is considered to compare the structural peculiarity of its spiral arms with the wave theory predictions. The situation in the central and south-eastern part of arm S4 in Galaxy M31 noted to be completely explained by the wave theory and modern concepts on the origin of massive stars

Arms races between and within species.

Science.gov (United States)

Dawkins, R; Krebs, J R

1979-09-21

An adaptation in one lineage (e.g. predators) may change the selection pressure on another lineage (e.g. prey), giving rise to a counter-adaptation. If this occurs reciprocally, an unstable runaway escalation or 'arms race' may result. We discuss various factors which might give one side an advantage in an arms race. For example, a lineage under strong selection may out-evolve a weakly selected one (' the life-dinner principle'). We then classify arms races in two independent ways. They may be symmetric or asymmetric, and they may be interspecific or intraspecific. Our example of an asymmetric interspecific arms race is that between brood parasites and their hosts. The arms race concept may help to reduce the mystery of why cuckoo hosts are so good at detecting cuckoo eggs, but so bad at detecting cuckoo nestlings. The evolutionary contest between queen and worker ants over relative parental investment is a good example of an intraspecific asymmetric arms race. Such cases raise special problems because the participants share the same gene pool. Interspecific symmetric arms races are unlikely to be important, because competitors tend to diverge rather than escalate competitive adaptations. Intraspecific symmetric arms races, exemplified by adaptations for male-male competition, may underlie Cope's Rule and even the extinction of lineages. Finally we consider ways in which arms races can end. One lineage may drive the other to extinction; one may reach an optimum, thereby preventing the other from doing so; a particularly interesting possibility, exemplified by flower-bee coevolution, is that both sides may reach a mutual local optimum; lastly, arms races may have no stable and but may cycle continuously. We do not wish necessarily to suggest that all, or even most, evolutionary change results from arms races, but we do suggest that the arms race concept may help to resolve three long-standing questions in evolutionary theory.

Dopaminergic dysfunction and psychiatric symptoms in movement disorders: a {sup 123}I-FP-CIT SPECT study

Energy Technology Data Exchange (ETDEWEB)

Di Giuda, Daniela; Cocciolillo, Fabrizio; Bruno, Isabella; Giordano, Alessandro [Universita Cattolica del Sacro Cuore, Istituto di Medicina Nucleare, Rome (Italy); Camardese, Giovanni; Pucci, Lorella; Janiri, Luigi [Universita Cattolica del Sacro Cuore, Istituto di Psichiatria e Psicologia, Rome (Italy); Bentivoglio, Anna Rita; Guidubaldi, Arianna [Universita Cattolica del Sacro Cuore, Istituto di Neurologia, Rome (Italy); Fasano, Alfonso [Universita Cattolica del Sacro Cuore, Istituto di Neurologia, Rome (Italy); AFaR-Associazione Fatebenefratelli per la Ricerca, Rome (Italy)

2012-12-15

Psychiatric symptoms frequently occur in patients with movement disorders. They are not a mere reaction to chronic disability, but most likely due to a combination of psychosocial factors and biochemical dysfunction underlying the movement disorder. We assessed dopamine transporter (DAT) availability by means of {sup 123}I-FP-CIT SPECT, and motor and psychiatric features in patients with Parkinson's disease, primary dystonia and essential tremor, exploring the association between SPECT findings and symptom severity. Enrolled in the study were 21 patients with Parkinson's disease, 14 patients with primary dystonia and 15 patients with essential tremor. The severity of depression symptoms was assessed using the Hamilton depression rating scale, anxiety levels using the Hamilton anxiety rating scale and hedonic tone impairment using the Snaith-Hamilton pleasure scale. Specific {sup 123}I-FP-CIT binding in the caudate and putamen was calculated based on ROI analysis. The control group included 17 healthy subjects. As expected, DAT availability was significantly decreased in patients with Parkinson's disease, whereas in essential tremor and dystonia patients it did not differ from that observed in the control group. In Parkinson's disease patients, an inverse correlation between severity of depression symptoms and DAT availability in the left caudate was found (r = -0.63, p = 0.002). In essential tremor patients, levels of anxiety symptoms were inversely correlated with DAT availability in the left caudate (r = -0.69, p = 0.004). In dystonia patients, the severities of both anxiety and depression symptoms were inversely associated with DAT availability in the left putamen (r = -0.71, p = 0.004, and r = -0.75, p = 0.002, respectively). There were no correlations between psychometric scores and {sup 123}I-FP-CIT uptake ratios in healthy subjects. We found association between presynaptic dopaminergic function and affective symptoms in different movement

Dopaminergic dysfunction and psychiatric symptoms in movement disorders: a 123I-FP-CIT SPECT study

International Nuclear Information System (INIS)

Di Giuda, Daniela; Cocciolillo, Fabrizio; Bruno, Isabella; Giordano, Alessandro; Camardese, Giovanni; Pucci, Lorella; Janiri, Luigi; Bentivoglio, Anna Rita; Guidubaldi, Arianna; Fasano, Alfonso

2012-01-01

Psychiatric symptoms frequently occur in patients with movement disorders. They are not a mere reaction to chronic disability, but most likely due to a combination of psychosocial factors and biochemical dysfunction underlying the movement disorder. We assessed dopamine transporter (DAT) availability by means of 123 I-FP-CIT SPECT, and motor and psychiatric features in patients with Parkinson's disease, primary dystonia and essential tremor, exploring the association between SPECT findings and symptom severity. Enrolled in the study were 21 patients with Parkinson's disease, 14 patients with primary dystonia and 15 patients with essential tremor. The severity of depression symptoms was assessed using the Hamilton depression rating scale, anxiety levels using the Hamilton anxiety rating scale and hedonic tone impairment using the Snaith-Hamilton pleasure scale. Specific 123 I-FP-CIT binding in the caudate and putamen was calculated based on ROI analysis. The control group included 17 healthy subjects. As expected, DAT availability was significantly decreased in patients with Parkinson's disease, whereas in essential tremor and dystonia patients it did not differ from that observed in the control group. In Parkinson's disease patients, an inverse correlation between severity of depression symptoms and DAT availability in the left caudate was found (r = -0.63, p = 0.002). In essential tremor patients, levels of anxiety symptoms were inversely correlated with DAT availability in the left caudate (r = -0.69, p = 0.004). In dystonia patients, the severities of both anxiety and depression symptoms were inversely associated with DAT availability in the left putamen (r = -0.71, p = 0.004, and r = -0.75, p = 0.002, respectively). There were no correlations between psychometric scores and 123 I-FP-CIT uptake ratios in healthy subjects. We found association between presynaptic dopaminergic function and affective symptoms in different movement disorders. Interestingly, the

JPRS Report Arms Control

National Research Council Canada - National Science Library

1993-01-01

Table of Contents: (1) COMMONWEALTH OF INDEPENDENT STATES - (A) GENERAL Flaws in U.S.-Russian SSD Agreement Viewed, Khariton - Espionage Not Crucial in Soviet Nuclear Arms Development, Further on Espionage Role in Nuclear Arms Projects...

Organization of octopus arm movements: a model system for studying the control of flexible arms.

Science.gov (United States)

Gutfreund, Y; Flash, T; Yarom, Y; Fiorito, G; Segev, I; Hochner, B

1996-11-15

Octopus arm movements provide an extreme example of controlled movements of a flexible arm with virtually unlimited degrees of freedom. This study aims to identify general principles in the organization of these movements. Video records of the movements of Octopus vulgaris performing the task of reaching toward a target were studied. The octopus extends its arm toward the target by a wave-like propagation of a bend that travels from the base of the arm toward the tip. Similar bend propagation is seen in other octopus arm movements, such as locomotion and searching. The kinematics (position and velocity) of the midpoint of the bend in three-dimensional space were extracted using the direct linear transformation algorithm. This showed that the bend tends to move within a single linear plane in a simple, slightly curved path connecting the center of the animal's body with the target location. Approximately 70% of the reaching movements demonstrated a stereotyped tangential velocity profile. An invariant profile was observed when movements were normalized for velocity and distance. Two arms, extended together in the same behavioral context, demonstrated identical velocity profiles. The stereotyped features of the movements were also observed in spontaneous arm extensions (not toward an external target). The simple and stereotypic appearance of the bend trajectory suggests that the position of the bend in space and time is the controlled variable. We propose that this strategy reduces the immense redundancy of the octopus arm movements and hence simplifies motor control.

High precision detector robot arm system

Science.gov (United States)

Shu, Deming; Chu, Yong

2017-01-31

A method and high precision robot arm system are provided, for example, for X-ray nanodiffraction with an X-ray nanoprobe. The robot arm system includes duo-vertical-stages and a kinematic linkage system. A two-dimensional (2D) vertical plane ultra-precision robot arm supporting an X-ray detector provides positioning and manipulating of the X-ray detector. A vertical support for the 2D vertical plane robot arm includes spaced apart rails respectively engaging a first bearing structure and a second bearing structure carried by the 2D vertical plane robot arm.

Algorithms for Unequal-Arm Michelson Interferometers

Science.gov (United States)

Giampieri, Giacomo; Hellings, Ronald W.; Tinto, Massimo; Bender, Peter L.; Faller, James E.

1994-01-01

A method of data acquisition and data analysis is described in which the performance of Michelson-type interferometers with unequal arms can be made nearly the same as interferometers with equal arms. The method requires a separate readout of the relative phase in each arm, made by interfering the returning beam in each arm with a fraction of the outgoing beam.

Imaging insights into basal ganglia function, Parkinson’s disease, and dystonia

Science.gov (United States)

Stoessl, A. Jon; Lehericy, Stephane; Strafella, Antonio P.

2015-01-01

Recent advances in structural and functional imaging have greatly improved our ability to assess normal functions of the basal ganglia, diagnose parkinsonian syndromes, understand the pathophysiology of parkinsonism and other movement disorders, and detect and monitor disease progression. Radionuclide imaging is the best way to detect and monitor dopamine deficiency, and will probably continue to be the best biomarker for assessment of the effects of disease-modifying therapies. However, advances in magnetic resonance enable the separation of patients with Parkinson’s disease from healthy controls, and show great promise for differentiation between Parkinson’s disease and other akinetic-rigid syndromes. Radionuclide imaging is useful to show the dopaminergic basis for both motor and behavioural complications of Parkinson’s disease and its treatment, and alterations in non-dopaminergic systems. Both PET and MRI can be used to study patterns of functional connectivity in the brain, which is disrupted in Parkinson’s disease and in association with its complications, and in other basal-ganglia disorders such as dystonia, in which an anatomical substrate is not otherwise apparent. Functional imaging is increasingly used to assess underlying pathological processes such as neuroinflammation and abnormal protein deposition. This imaging is another promising approach to assess the effects of treatments designed to slow disease progression. PMID:24954673

Focal Dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE

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David ePerruchoud

2014-06-01

Full Text Available Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, and the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized by sensory and motor deficits in the absence of basic motor impairments. Despite the fundamental impact of sensory-motor integration mechanisms on daily life, the general principles of healthy and pathological anatomic-functional organization of sensory-motor integration remain to be clarified. Based on the available data from experimental psychology, neurophysiology, and neuroimaging, we propose a bio-computational model of sensory-motor integration: the Sensory-Motor Integrative Loop for Enacting (SMILE. Aiming at direct therapeutic implementations and with the final target of implementing novel intervention protocols for motor rehabilitation, our main goal is to provide the information necessary for further validating the SMILE model. By translating neuroscientific hypotheses into empirical investigations and clinically relevant questions, the prediction based on the SMILE model can be further extended to other pathological conditions characterized by impaired sensory-motor integration.

Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE).

Science.gov (United States)

Perruchoud, David; Murray, Micah M; Lefebvre, Jeremie; Ionta, Silvio

2014-01-01

Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized by sensory and motor deficits in the absence of basic motor impairments. Despite the fundamental impact of sensory-motor integration mechanisms on daily life, the general principles of healthy and pathological anatomic-functional organization of sensory-motor integration remain to be clarified. Based on the available data from experimental psychology, neurophysiology, and neuroimaging, we propose a bio-computational model of sensory-motor integration: the Sensory-Motor Integrative Loop for Enacting (SMILE). Aiming at direct therapeutic implementations and with the final target of implementing novel intervention protocols for motor rehabilitation, our main goal is to provide the information necessary for further validating the SMILE model. By translating neuroscientific hypotheses into empirical investigations and clinically relevant questions, the prediction based on the SMILE model can be further extended to other pathological conditions characterized by impaired sensory-motor integration.

FY1995 development of artificial arm 'SMART ARM' by spherical ultrasonic motor; 1995 nendo kyumen choonpa motor wo mochiita jinko gishu smart arm no kaihatsu

Energy Technology Data Exchange (ETDEWEB)

NONE

1997-03-01

The project has an intention of development of new type artificial arm by spherical ultrasonic motor. We have succeeded in developing new type of spherical ultrasonic motor with three DOF. And we have succeeded in applying the motor to an artificial arm. This arm have advantages of small size, low weight torque comparing with conventional ones. We demonstrated them the new arm behaved well and it had good controlabilty. (NEDO)

Octopus-inspired multi-arm robotic swimming.

Science.gov (United States)

Sfakiotakis, M; Kazakidi, A; Tsakiris, D P

2015-05-13

The outstanding locomotor and manipulation characteristics of the octopus have recently inspired the development, by our group, of multi-functional robotic swimmers, featuring both manipulation and locomotion capabilities, which could be of significant engineering interest in underwater applications. During its little-studied arm-swimming behavior, as opposed to the better known jetting via the siphon, the animal appears to generate considerable propulsive thrust and rapid acceleration, predominantly employing movements of its arms. In this work, we capture the fundamental characteristics of the corresponding complex pattern of arm motion by a sculling profile, involving a fast power stroke and a slow recovery stroke. We investigate the propulsive capabilities of a multi-arm robotic system under various swimming gaits, namely patterns of arm coordination, which achieve the generation of forward, as well as backward, propulsion and turning. A lumped-element model of the robotic swimmer, which considers arm compliance and the interaction with the aquatic environment, was used to study the characteristics of these gaits, the effect of various kinematic parameters on propulsion, and the generation of complex trajectories. This investigation focuses on relatively high-stiffness arms. Experiments employing a compliant-body robotic prototype swimmer with eight compliant arms, all made of polyurethane, inside a water tank, successfully demonstrated this novel mode of underwater propulsion. Speeds of up to 0.26 body lengths per second (approximately 100 mm s(-1)), and propulsive forces of up to 3.5 N were achieved, with a non-dimensional cost of transport of 1.42 with all eight arms and of 0.9 with only two active arms. The experiments confirmed the computational results and verified the multi-arm maneuverability and simultaneous object grasping capability of such systems.

Cathodal Transcranial Direct Current Stimulation Improves Focal Hand Dystonia in Musicians: A Two-Case Study

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Sara Marceglia

2017-09-01

Full Text Available Focal hand dystonia (FHD in musicians is a movement disorder causing abnormal movements and irregularities in playing. Since weak electrical currents applied to the brain induce persistent excitability changes in humans, cathodal tDCS was proposed as a possible non-invasive approach for modulating cortical excitability in patients with FHD. However, the optimal targets and modalities have still to be determined. In this pilot study, we delivered cathodal (2 mA, anodal (2 mA and sham tDCS over the motor areas bilaterally for 20 min daily for five consecutive days in two musicians with FHD. After cathodal tDCS, both patients reported a sensation of general wellness and improved symptoms of FHD. In conclusion, our pilot results suggest that cathodal tDCS delivered bilaterally over motor-premotor (M-PM cortex for 5 consecutive days may be effective in improving symptoms in FHD.

Repetitive transcranial magnetic stimulation reveals a role for the left inferior parietal lobule in matching observed kinematics during imitation.

Science.gov (United States)

Reader, Arran T; Royce, Ben P; Marsh, Jade E; Chivers, Katy-Jayne; Holmes, Nicholas P

2018-04-01

Apraxia (a disorder of complex movement) suggests that the left inferior parietal lobule (IPL) plays a role in kinematic or spatial aspects of imitation, which may be particularly important for meaningless (i.e. unfamiliar intransitive) actions. Mirror neuron theories indicate that the IPL is part of a frontoparietal system that can support imitation by linking observed and stored actions through visuomotor matching, and have less to say about different subregions of the left IPL, or how different types of action (i.e. meaningful or meaningless) are processed for imitation. We used repetitive transcranial magnetic stimulation (rTMS) to bridge this gap and better understand the roles of the left supramarginal gyrus (SMG) and left angular gyrus (AG) in imitation. We also examined whether these areas are differentially involved in meaningful and meaningless action imitation. We applied rTMS over the left SMG, over the left AG or during a no-rTMS baseline condition, and then asked participants to imitate a confederate's actions whilst the arm and hand movements of both individuals were motion-tracked. rTMS over both the left SMG and the left AG reduced the velocity of participants' finger movements relative to the actor during imitation of finger gestures, regardless of action meaning. Our results support recent claims in apraxia and confirm a role for the left IPL in kinematic processing during gesture imitation, regardless of action meaning. © 2018 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

Inter-arm Differences in Simultaneous Blood Pressure Measurements in Ambulatory Patients without Cardiovascular Diseases.

Science.gov (United States)

Kim, Kyoung Bog; Oh, Mi Kyeong; Kim, Haa Gyoung; Ki, Ji Hoon; Lee, Soo Hee; Kim, Su Min

2013-03-01

It has traditionally been known that there is normally a difference in blood pressure (BP) between the two arms; there is at least 20 mm Hg difference in the systolic blood pressure (SBP) and 10 mm Hg difference in the diastolic blood pressure (DBP). However, recent epidemiologic studies have shown that there are between-arm differences of arm differences in simultaneous BP measurements obtained from ambulatory patients without cardiovascular diseases and to identify the factors associated these differences. We examined 464 patients who visited the outpatient clinic of Gangneung Asan Hospital clinical department. For the current analysis, we excluded patients with ischemic heart disease, stroke, arrhythmia, congestive heart failure, or hyperthyroidism. Simultaneous BP measurements were obtained using the Omron MX3 BP monitor in both arms. The inter-arm difference (IAD) in BP was expressed as the relative difference (right-arm BP [R] minus left-arm BP [L]: R - L) and the absolute difference (|R - L|). The mean absolute IAD in SBP and DBP were 3.19 ± 2.38 and 2.41 ± 1.59 mm Hg, respectively, in men and 2.61 ± 2.18 and 2.25 ± 2.01 mm Hg, respectively, in women. In men, there were 83.8% of patients with the IAD in SBP of ≤ 6 mm Hg, 98.1% with the IAD in SBP of ≤ 10 mm Hg, 96.5% with the IAD in DBP of ≤ 6 mm Hg and 0% with the IAD in DBP of > 10 mm Hg. In women, 89.6% of patients had IAD in SBP of ≤ 6 mm Hg, 92.1% with IAD in DBP of ≤ 6 mm Hg, and 0% with IAD in SBP of > 10 mm Hg or IAD in DBP of > 10 mm Hg. Gangneung Asan Hospital clinical series of patients showed that the absolute IAD in SBP had a significant correlation with cardiovascular risk factors such as the 10-year Framingham cardiac risk scores and higher BP in men and higher BP in women. However, the absolute IAD in SBP and DBP had no significant correlation with the age, obesity, smoking, drinking, hyperlipidemia, diabetes, metabolic syndrome, and renal function. Our results showed that there

Difícil manejo do paciente com distonia segmentar respiratória The difficult management of patients with respiratory segmental dystonia

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Noemi Grigoletto De Biase

2007-04-01

Full Text Available A forma respiratória da distonia laríngea é rara, de difícil diagnóstico e provoca restrição respiratória de graus variados. O objetivo deste trabalho é apresentar um caso de distonia respiratória envolvendo laringe e faringe e sua evolução em relação à intensidade dos espasmos e seu controle. ESTUDO DE CASO: Paciente de 24 anos, sexo masculino, acompanhado por 5 anos: diagnóstico por nasofibroscopia e eletromiografia e tratamento com toxina botulínica conforme necessidade de controle dos sintomas. CONCLUSÃO: O difícil manejo se deve ao fato do desconhecimento da etiologia e a pouca opção de tratamento, bem como do envolvimento da função respiratória.Respiratory dystonia is a rare and difficult to diagnose disorder, that causes breathing restriction of various degrees. The objective of the study is to report the case of a patient with respiratory dystonia involving the larynx and the pharynx and its evolution concerning spasms intensity and control. CASE REPORT: A 24 year-old-man has been followed for 5 years. The diagnosis was made by means of nasofibroscopy and electromyography. Treatment was carried out with laryngeal and pharyngeal Botulin toxin injections, as it became necessary for symptoms control. CONCLUSION: The difficult management can be secondary to the lack of knowledge on the etiology and physiopathology of the impairment, and because of the limitations in the treatment of associated respiratory symptoms.

Contributions of positron emission tomography to elucidating the pathogenesis of idiopathic Parkinsonism and dopa responsive dystonia

International Nuclear Information System (INIS)

Calne, D.B.; Fuente-Fernandez, R. de la; Kishore, A.

1996-01-01

The metabolic mapping of brain activity. using PET, confirms the conventional wisdom of neurophysiology. In studies of pathophysiology, PET has yielded evidence that has generated new hypotheses. Progression of the lesion detectable with fluorodopa, in human subjects exposed to MPTP, raises the possibility of a transient environmental event being a cause of progressive neurodegeneration. Studies with fluorodopa in Idiopathic Parkinsonism indicate that the rate of loss of neurons is faster initially, and then tends to approach the normal age-related decline. In dopa responsive dystonia, the finding of normal fluorodopa PET led to the prediction that the lesion would be functional rather than anatomical; this has been confirmed by the identification of a defect in dopamine synthesis in this disorder. Finally, new PET ligands show promise for future studies designed to unravel the pathogenesis of diseases involving the basal ganglia. (author)

Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses

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Diego Iacono

2015-05-01

Full Text Available Background: Dystonias (Dys represent the third most common movement disorder after essential tremor (ET and Parkinson's disease (PD. While some pathogenetic mechanisms and genetic causes of Dys have been identified, little is known about their neuropathologic features. Previous neuropathologic studies have reported generically defined neuronal loss in various cerebral regions of Dys brains, mostly in the basal ganglia (BG, and specifically in the substantia nigra (SN. Enlarged pigmented neurons in the SN of Dys patients with and without specific genetic mutations (e.g., GAG deletions in DYT1 dystonia have also been described. Whether or not Dys brains are associated with decreased numbers or other morphometric changes of specific neuronal types is unknown and has never been addressed with quantitative methodologies. Methods: Quantitative immunohistochemistry protocols were used to estimate neuronal counts and volumes of nigral pigmented neurons in 13 SN of Dys patients and 13 SN of age‐matched control subjects (C. Results: We observed a significant reduction (∼20% of pigmented neurons in the SN of Dys compared to C (p<0.01. Neither significant volumetric changes nor evident neurodegenerative signs were observed in the remaining pool of nigral pigmented neurons in Dys brains. These novel quantitative findings were confirmed after exclusion of possible co‐occurring SN pathologies including Lewy pathology, tau‐neurofibrillary tangles, β‐amyloid deposits, ubiquitin (ubiq, and phosphorylated‐TAR DNA‐binding protein 43 (pTDP43‐positive inclusions. Discussion: A reduced number of nigral pigmented neurons in the absence of evident neurodegenerative signs in Dys brains could indicate previously unconsidered pathogenetic mechanisms of Dys such as neurodevelopmental defects in the SN.

Security and arms control

International Nuclear Information System (INIS)

Kolodziej, E.A.; Morgan, P.M.

1989-01-01

This book attempts to clarify and define selected current issues and problems related to security and arms control from an international perspective. The chapters are organized under the following headings. Conflict and the international system, Nuclear deterrence, Conventional warfare, Subconventional conflict, Arms control and crisis management

Version of the galaxy spiral structure model with opposite-directed arms and inter-arm links

Energy Technology Data Exchange (ETDEWEB)

Dolidze, M V [AN Gruzinskoj SSR, Abastumani. Abastumanskaya Astrofizicheskaya Observatoriya

1963-05-01

An attempt is made to explain some peculiarities of the local spiral structure and large-scale distribution of HII regions in the Galaxy by coexistence of the trailing and leading arm systems of different power and development. The existence of opposite-directed arms and inter-arm links in the circular zone (5-15 kpc) is analysed from the point of view of different Galaxy models.

Spiral-arm instability: giant clump formation via fragmentation of a galactic spiral arm

Science.gov (United States)

Inoue, Shigeki; Yoshida, Naoki

2018-03-01

Fragmentation of a spiral arm is thought to drive the formation of giant clumps in galaxies. Using linear perturbation analysis for self-gravitating spiral arms, we derive an instability parameter and define the conditions for clump formation. We extend our analysis to multicomponent systems that consist of gas and stars in an external potential. We then perform numerical simulations of isolated disc galaxies with isothermal gas, and compare the results with the prediction of our analytic model. Our model describes accurately the evolution of the spiral arms in our simulations, even when spiral arms dynamically interact with one another. We show that most of the giant clumps formed in the simulated disc galaxies satisfy the instability condition. The clump masses predicted by our model are in agreement with the simulation results, but the growth time-scale of unstable perturbations is overestimated by a factor of a few. We also apply our instability analysis to derive scaling relations of clump properties. The expected scaling relation between the clump size, velocity dispersion, and circular velocity is slightly different from that given by the Toomre instability analyses, but neither is inconsistent with currently available observations. We argue that the spiral-arm instability is a viable formation mechanism of giant clumps in gas-rich disc galaxies.

Arm exercise-thallium imaging testing for the detection of coronary artery disease

International Nuclear Information System (INIS)

Balady, G.J.; Weiner, D.A.; Rothendler, J.A.; Ryan, T.J.

1987-01-01

Patients with lower limb impairment are often unable to undergo a standard bicycle or treadmill test for the evaluation of coronary artery disease. To establish an alternative method of testing, 50 subjects (aged 56 +/- 10 years) performed arm ergometry testing in conjunction with myocardial thallium scintigraphy. All underwent coronary angiography; significant coronary artery disease (greater than or equal to 70% stenosis) in at least one vessel was present in 41 (82%) of the 50 patients. Thallium scintigraphy was found to have an 83% sensitivity and 78% specificity for detecting coronary disease, compared with a sensitivity and specificity of 54% (p less than 0.01) and 67% (p = NS), respectively, for exercise electrocardiography. In the subgroup of 23 patients who had no prior myocardial infarction or left bundle branch block and were not taking digitalis, thallium scintigraphy had a sensitivity of 80% versus 50% for exercise electrocardiography. Scintigraphy yielded a sensitivity of 84, 74 and 90% for one, two and three vessel disease, respectively. Noninvasive arm ergometry exercise-thallium imaging testing appears to be reliable and useful and should be considered in the evaluation of coronary artery disease in patients with lower limb impairment

Poly(glycolide multi-arm star polymers: Improved solubility via limited arm length

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Florian K. Wolf

2010-06-01

Full Text Available Due to the low solubility of poly(glycolic acid (PGA, its use is generally limited to the synthesis of random copolyesters with other hydroxy acids, such as lactic acid, or to applications that permit direct processing from the polymer melt. Insolubility is generally observed for PGA when the degree of polymerization exceeds 20. Here we present a strategy that allows the preparation of PGA-based multi-arm structures which significantly exceed the molecular weight of processable oligomeric linear PGA (<1000 g/mol. This was achieved by the use of a multifunctional hyperbranched polyglycerol (PG macroinitiator and the tin(II-2-ethylhexanoate catalyzed ring-opening polymerization of glycolide in the melt. With this strategy it is possible to combine high molecular weight with good molecular weight control (up to 16,000 g/mol, PDI = 1.4–1.7, resulting in PGA multi-arm star block copolymers containing more than 90 wt % GA. The successful linkage of PGA arms and PG core via this core first/grafting from strategy was confirmed by detailed NMR and SEC characterization. Various PG/glycolide ratios were employed to vary the length of the PGA arms. Besides fluorinated solvents, the materials were soluble in DMF and DMSO up to an average arm length of 12 glycolic acid units. Reduction in the Tg and the melting temperature compared to the homopolymer PGA should lead to simplified processing conditions. The findings contribute to broadening the range of biomedical applications of PGA.

Unsuccessful lung scan due to major right-to-left shunt through a sinus venosus septal defect

International Nuclear Information System (INIS)

Brendel, A.J.; Larnaudie, B.; Lambert, B.; Leccia, F.; Barat, J.L.; Ducassou, D.; Fontan, F.

1985-01-01

In a patient with a prior history of cerebral abscess and cerebral ischemia, an unsuccessful perfusion lung scan led to a radionuclide angiocardiogram using an arm vein injection. This showed a total right-to-left (R-L) shunt from the superior vena cava (SVC) to the left atrium. Repeat radionuclide study, through a leg vein, demonstrated a moderate R-L shunt and an interpretable lung scan could be obtained. Catheterization and contrast cineangiogram did not provide the exact diagnosis, the preoperative conclusion being anomalous drainage of the SVC into the left atrium, with atrial septal defect (ASD) and partial anomalous pulmonary venous connection to the SVC. The operative diagnosis was high atrial (sinus venosus) septal defect. This example of major but clinically unsuspected R-L shunt emphasizes the value of performing a perfusion lung scan, preferably in conjunction with radionuclide angiocardiography in patients with a prior history of unexplained cerebral abscess or systemic ischemia. Implications of the site of an ASD on quantitation of L-R shunts by radionuclide methods are also discussed

Isolated persistent left-sided superior vena cava, giant coronary sinus, atrial tachycardia and heart failure in a child

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Nagaraja Moorthy

2013-09-01

Full Text Available Persistence of a left-sided superior vena cava (PLSVC with absent right superior vena cava (isolated PLSVC is a very rare venous malformation and commonly associated with congenital heart disease or alterations of the cardiac situs. We describe an unusual case of a young boy presenting with persistent atrial tachycardia and congestive heart failure. He was detected to have unexplained grossly dilated right atrium, right ventricle with systolic dysfunction and a giant coronary sinus (CS. The dilated CS closely mimicked a pseudo cor-triatriatum on echocardiography. Contrast echocardiography from both arms revealed opacification of the CS before the right atrium. Bilateral upper limb venography confirmed the presence of absent right SVC and isolated persistent left SVC draining into the giant coronary sinus.

A 21.7 kb DNA segment on the left arm of yeast chromosome XIV carries WHI3, GCR2, SPX18, SPX19, an homologue to the heat shock gene SSB1 and 8 new open reading frames of unknown function.

Science.gov (United States)

Jonniaux, J L; Coster, F; Purnelle, B; Goffeau, A

1994-12-01

We report the amino acid sequence of 13 open reading frames (ORF > 299 bp) located on a 21.7 kb DNA segment from the left arm of chromosome XIV of Saccharomyces cerevisiae. Five open reading frames had been entirely or partially sequenced previously: WHI3, GCR2, SPX19, SPX18 and a heat shock gene similar to SSB1. The products of 8 other ORFs are new putative proteins among which N1394 is probably a membrane protein. N1346 contains a leucine zipper pattern and the corresponding ORF presents an HAP (global regulator of respiratory genes) upstream activating sequence in the promoting region. N1386 shares homologies with the DNA structure-specific recognition protein family SSRPs and the corresponding ORF is preceded by an MCB (MluI cell cycle box) upstream activating factor.

Arm Volumetry Versus Upper Extremity Lymphedema Index: Validity of Upper Extremity Lymphedema Index for Body-Type Corrected Arm Volume Evaluation.

Science.gov (United States)

Yamamoto, Nana; Yamamoto, Takumi; Hayashi, Nobuko; Hayashi, Akitatsu; Iida, Takuya; Koshima, Isao

2016-06-01

Volumetry, measurement of extremity volume, is a commonly used method for upper extremity lymphedema (UEL) evaluation. However, comparison between different patients with different physiques is difficult with volumetry, because body-type difference greatly affects arm volume. Seventy arms of 35 participants who had no history of arm edema or breast cancer were evaluated. Arm volume was calculated using a summed truncated cone model, and UEL index was calculated using circumferences and body mass index (BMI). Examinees' BMI was classified into 3 groups, namely, low BMI (BMI, 25 kg/m). Arm volume and UEL index were compared with corresponding BMI groups. Mean (SD) arm volume was 1090.9 (205.5) mL, and UEL index 96.9 (5.6). There were significant differences in arm volume between BMI groups [low BMI vs middle BMI vs high BMI, 945.2 (107.4) vs 1045.2 (87.5) vs 1443.1 (244.4) mL, P 0.5]. Arm volume significantly increased with increase of BMI, whereas UEL index stayed constant regardless of BMI. Upper extremity lymphedema index would allow better body-type corrected arm volume evaluation compared with arm volumetry.

Arm-trunk coordination in wheelchair initiation displacement: A study of anticipatory and compensatory postural adjustments during different speeds and directions of propulsion.

Science.gov (United States)

Chikh, Soufien; Garnier, Cyril; Faupin, Arnaud; Pinti, Antonio; Boudet, Samuel; Azaiez, Fairouz; Watelain, Eric

2018-03-13

Arm-trunk coordination during the initiation of displacement in manual wheelchair is a complex task. The objective of this work is to study the arm-trunk coordination by measuring anticipatory and compensatory postural adjustments. Nine healthy subjects participated in the study after being trained in manual wheelchair. They were asked to initiate a displacement in manual wheelchair in three directions (forward vs. left vs. right), with two speeds (spontaneous vs. maximum) and with two initial hand's positions (hands on thighs vs. hands on handrails). Muscular activities in the trunk (postural component) and the arms (focal component) were recorded bilaterally. The results show two strategies for trunk control: An anticipatory adjustment strategy and a compensatory adjustment strategy with a dominance of compensation. These two strategies are influenced by the finalities of displacement in terms of speed and direction depending on the hands positions. Arm-trunk coordination is characterized by an adaptability of anticipatory and compensatory postural adjustments. The study of this type of coordination for subjects with different levels of spinal cord injury could be used to predict the forthcoming displacement and thus assist the user in a complex task. Copyright © 2018 Elsevier Ltd. All rights reserved.

Eating dysfunction associated with oromandibular dystonia: clinical characteristics and treatment considerations

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Singer Carlos

2006-12-01

Full Text Available Abstract Background In oromandibular dystonia (OMD abnormal repetitive contractions of masticatory, facial, and lingual muscles as well as the presence of orobuccolingual (OBL dyskinesias may interfere with the appropriate performance of tasks such as chewing and swallowing leading to significant dysphagia and weight loss. We present here the clinical characteristics and treatment variables of a series of patients that developed an OMD-associated eating dysfunction. Methods We present a series of patients diagnosed and followed-up at the Movement Disorders Clinic of the Department of Neurology of University of Miami, Miller School of Medicine over a 10-year period. Patients were treated with botulinum toxin injections according to standard methods. Results Five out of 32 (15.6% OMD patients experienced symptoms of eating dysfunction associated with OMD. Significant weight loss was reported in 3/5 patients (ranged for 13–15 lbs. Two patients regained the lost weight after treatment and one was lost to follow-up. Tetrabenazine in combination with other antidystonic medication and/or botulinum toxin injections provided substantial benefit to the patients with dysphagia caused by OMD. Conclusion Dystonic eating dysfunction may occasionally complicate OMD leading to weight loss. Its adequate characterization at the time of history taking and clinical examination should be part of outcome measurements of the anti-dystonic treatment in clinical practice.

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

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Joshua T. Geiger

2017-08-01

Full Text Available Background: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current understanding of the clinical spectrum of tubulinopathies is predominantly based on research in fetal tissue and early-childhood cases. Methods: Testing of candidate genes followed by whole-exome sequencing was performed in an adult woman with a neurodevelopmental, hyperkinetic movement disorder, to identify the underlying genetic cause. Bioinformatic modeling and a systematic review of literature was conducted to investigate genotype-phenotype correlations. Results: The patient was found to carry a heterozygous, de novo c.722G>A, p.R241H mutation in a conserved domain of TUBB2B, encoding the β-isoform of tubulin. In silico analysis indicated that this mutation was pathogenic. On neuroimaging, the patient had asymmetric pachygyria and dysmorphic basal ganglia. Her neurological examination demonstrated mild cognitive impairment, myoclonus-dystonia, and skeletal anomalies. Conclusions: Here, we report the unique phenotype of an adult TUBB2B mutation carrier. This case illustrates a relatively mild phenotype compared to previously described fetal and early childhood cases. This highlights the importance of obtaining molecular genetic testing in individuals with a high probability of a genetic disease, including undiagnosed adult patients.

Mantle cell lymphoma relapsing at the lymphedematous arm.

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Giuseppina Massini

2013-02-01

Full Text Available Lymphedema (LE is a chronic medical condition characterized by lymphatic fluid retention, resulting in tissue swelling. Cancer treatments involving lymph nodes can damage lymph drainage routes, causing accumulation of lymph fluid in the interstitial tissue of related limbs and body areas and secondary LE.  Basically, the LE has a negative impact on physical and mental quality of life. Moreover, 0.07-0.04% of long term survivors (most patients undergone mastectomy can develop the Stewart-Treves syndrome,  a rare and aggressive multifocal lymphangiosarcoma arising within the LE region. Here we describe a   45-year-old woman  with a massive LE of the left arm,  as a consequence of previous breast cancer,  who  was diagnosed after 4 years  of stage IV mantle cell lymphoma (MCL . The patient after obtaining complete remission with chemotherapy and ABMT  relapsed of MCL in lymphedema site.

Modernization of African Armed Forces

DEFF Research Database (Denmark)

Mandrup, Thomas

2015-01-01

Concept paper framing the debate at the Dakar Forum Workshop on Modernization of Armed forces in Africa.......Concept paper framing the debate at the Dakar Forum Workshop on Modernization of Armed forces in Africa....

Paul Wittgenstein's right arm and his phantom: the saga of a famous concert pianist and his amputation.

Science.gov (United States)

Boller, François; Bogousslavsky, Julien

2015-01-01

Reports of postamputation pain and problems linked to phantom limbs have increased in recent years, particularly in relation to war-related amputations. These problems are still poorly understood and are considered rather mysterious, and they are difficult to treat. In addition, they may shed light on brain physiology and neuropsychology. Functional neuroimaging techniques now enable us to better understand their pathophysiology and to consider new rehabilitation techniques. Several artists have suffered from postamputation complications and this has influenced not only their personal life but also their artistic work. Paul Wittgenstein (1887-1961), a pianist whose right arm was amputated during the First World War, became a famous left-handed concert performer. His case provides insight into Post-World War I musical and political history. More specifically, the impact on the artistic life of this pianist illustrates various postamputation complications, such as phantom limb, stump pain, and especially moving phantom. The phantom movements of his right hand helped him develop the dexterity of his left hand. Wittgenstein played piano works that were written especially for him (the most famous being Ravel's Concerto for the Left Hand) and composed some of his own. Additionally, several famous composers had previously written for the left hand. © 2015 Elsevier B.V. All rights reserved.

21 CFR 890.3640 - Arm sling.

Science.gov (United States)

2010-04-01

... arm sling is a device intended for medical purposes to immobilize the arm, by means of a fabric band... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Arm sling. 890.3640 Section 890.3640 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES...

ARM assembly language with hardware experiments

CERN Document Server

Elahi, Ata

2015-01-01

This book provides a hands-on approach to learning ARM assembly language with the use of a TI microcontroller. The book starts with an introduction to computer architecture and then discusses number systems and digital logic. The text covers ARM Assembly Language, ARM Cortex Architecture and its components, and Hardware Experiments using TILM3S1968. Written for those interested in learning embedded programming using an ARM Microcontroller. ·         Introduces number systems and signal transmission methods   ·         Reviews logic gates, registers, multiplexers, decoders and memory   ·         Provides an overview and examples of ARM instruction set   ·         Uses using Keil development tools for writing and debugging ARM assembly language Programs   ·         Hardware experiments using a Mbed NXP LPC1768 microcontroller; including General Purpose Input/Output (GPIO) configuration, real time clock configuration, binary input to 7-segment display, creating ...

PHENIX Muon Arms

International Nuclear Information System (INIS)

Akikawa, H.; Al-Jamel, A.; Archuleta, J.B.; Archuleta, J.R.; Armendariz, R.; Armijo, V.; Awes, T.C.; Baldisseri, A.; Barker, A.B.; Barnes, P.D.; Bassalleck, B.; Batsouli, S.; Behrendt, J.; Bellaiche, F.G.; Bland, A.W.; Bobrek, M.; Boissevain, J.G.; Borel, H.; Brooks, M.L.; Brown, A.W.; Brown, D.S.; Bruner, N.; Cafferty, M.M.; Carey, T.A.; Chai, J.-S.; Chavez, L.L.; Chollet, S.; Choudhury, R.K.; Chung, M.S.; Cianciolo, V.; Clark, D.J.; Cobigo, Y.; Dabrowski, C.M.; Debraine, A.; DeMoss, J.; Dinesh, B.V.; Drachenberg, J.L.; Drapier, O.; Echave, M.A.; Efremenko, Y.V.; En'yo, H.; Fields, D.E.; Fleuret, F.; Fried, J.; Fujisawa, E.; Funahashi, H.; Gadrat, S.; Gastaldi, F.; Gee, T.F.; Glenn, A.; Gogiberidze, G.; Gonin, M.; Gosset, J.; Goto, Y.; Granier de Cassagnac, R.; Hance, R.H.; Hart, G.W.; Hayashi, N.; Held, S.; Hicks, J.S.; Hill, J.C.; Hoade, R.; Hong, B.; Hoover, A.; Horaguchi, T.; Hunter, C.T.; Hurst, D.E.; Ichihara, T.; Imai, K.; Isenhower, L.D.L. Davis; Isenhower, L.D.L. Donald; Ishihara, M.; Jang, W.Y.; Johnson, J.; Jouan, D.; Kamihara, N.; Kamyshkov, Y.; Kang, J.H.; Kapoor, S.S.; Kim, D.J.; Kim, D.-W.; Kim, G.-B.; Kinnison, W.W.; Klinksiek, S.; Kluberg, L.; Kobayashi, H.; Koehler, D.; Kotchenda, L.; Kuberg, C.H.; Kurita, K.; Kweon, M.J.; Kwon, Y.; Kyle, G.S.; LaBounty, J.J.; Lajoie, J.G.; Lee, D.M.; Lee, S.; Leitch, M.J.; Li, Z.; Liu, M.X.; Liu, X.; Liu, Y.; Lockner, E.; Lopez, J.D.; Mao, Y.; Martinez, X.B.; McCain, M.C.; McGaughey, P.L.; Mioduszewski, S.; Mischke, R.E.; Mohanty, A.K.; Montoya, B.C.; Moss, J.M.; Murata, J.; Murray, M.M.; Nagle, J.L.; Nakada, Y.; Newby, J.; Obenshain, F.; Palounek, A.P.T.; Papavassiliou, V.; Pate, S.F.; Plasil, F.; Pope, K.; Qualls, J.M.; Rao, G.; Read, K.F.; Robinson, S.H.; Roche, G.; Romana, A.; Rosnet, P.; Roth, R.; Saito, N.; Sakuma, T.; Sandhoff, W.F.; Sanfratello, L.; Sato, H.D.; Savino, R.; Sekimoto, M.; Shaw, M.R.; Shibata, T.-A.; Sim, K.S.; Skank, H.D.; Smith, D.E.; Smith, G.D.; Sondheim, W.E.; Sorensen, S.; Staley, F.; Stankus, P.W.; Steffens, S.; Stein, E.M.; Stepanov, M.; Stokes, W.; Sugioka, M.; Sun, Z.; Taketani, A.; Taniguchi, E.; Tepe, J.D.; Thornton, G.W.; Tian, W.; Tojo, J.; Torii, H.; Towell, R.S.; Tradeski, J.; Vassent, M.; Velissaris, C.; Villatte, L.; Wan, Y.; Watanabe, Y.; Watkins, L.C.; Whitus, B.R.; Williams, C.; Willis, P.S.; Wong-Swanson, B.G.; Yang, Y.; Yoneyama, S.; Young, G.R.; Zhou, S.

2003-01-01

The PHENIX Muon Arms detect muons at rapidities of |y|=(1.2-2.4) with full azimuthal acceptance. Each muon arm must track and identify muons and provide good rejection of pions and kaons (∼10 -3 ). In order to accomplish this we employ a radial field magnetic spectrometer with precision tracking (Muon Tracker) followed by a stack of absorber/low resolution tracking layers (Muon Identifier). The design, construction, testing and expected run parameters of both the muon tracker and the muon identifier are described

PHENIX Muon Arms

Energy Technology Data Exchange (ETDEWEB)

Akikawa, H.; Al-Jamel, A.; Archuleta, J.B.; Archuleta, J.R.; Armendariz, R.; Armijo, V.; Awes, T.C.; Baldisseri, A.; Barker, A.B.; Barnes, P.D.; Bassalleck, B.; Batsouli, S.; Behrendt, J.; Bellaiche, F.G.; Bland, A.W.; Bobrek, M.; Boissevain, J.G.; Borel, H.; Brooks, M.L.; Brown, A.W.; Brown, D.S.; Bruner, N.; Cafferty, M.M.; Carey, T.A.; Chai, J.-S.; Chavez, L.L.; Chollet, S.; Choudhury, R.K.; Chung, M.S.; Cianciolo, V.; Clark, D.J.; Cobigo, Y.; Dabrowski, C.M.; Debraine, A.; DeMoss, J.; Dinesh, B.V.; Drachenberg, J.L.; Drapier, O.; Echave, M.A.; Efremenko, Y.V.; En' yo, H.; Fields, D.E.; Fleuret, F.; Fried, J.; Fujisawa, E.; Funahashi, H.; Gadrat, S.; Gastaldi, F.; Gee, T.F.; Glenn, A.; Gogiberidze, G.; Gonin, M.; Gosset, J.; Goto, Y.; Granier de Cassagnac, R.; Hance, R.H.; Hart, G.W.; Hayashi, N.; Held, S.; Hicks, J.S.; Hill, J.C.; Hoade, R.; Hong, B.; Hoover, A.; Horaguchi, T.; Hunter, C.T.; Hurst, D.E.; Ichihara, T.; Imai, K.; Isenhower, L.D.L. Davis; Isenhower, L.D.L. Donald; Ishihara, M.; Jang, W.Y.; Johnson, J.; Jouan, D.; Kamihara, N.; Kamyshkov, Y.; Kang, J.H.; Kapoor, S.S.; Kim, D.J.; Kim, D.-W.; Kim, G.-B.; Kinnison, W.W.; Klinksiek, S.; Kluberg, L.; Kobayashi, H.; Koehler, D.; Kotchenda, L.; Kuberg, C.H.; Kurita, K.; Kweon, M.J.; Kwon, Y.; Kyle, G.S.; LaBounty, J.J.; Lajoie, J.G.; Lee, D.M.; Lee, S.; Leitch, M.J.; Li, Z.; Liu, M.X.; Liu, X.; Liu, Y.; Lockner, E.; Lopez, J.D.; Mao, Y.; Martinez, X.B.; McCain, M.C.; McGaughey, P.L.; Mioduszewski, S.; Mischke, R.E.; Mohanty, A.K.; Montoya, B.C.; Moss, J.M.; Murata, J.; Murray, M.M.; Nagle, J.L.; Nakada, Y.; Newby, J.; Obenshain, F.; Palounek, A.P.T.; Papavassiliou, V.; Pate, S.F.; Plasil, F.; Pope, K.; Qualls, J.M.; Rao, G.; Read, K.F. E-mail: readkf@ornl.gov; Robinson, S.H.; Roche, G.; Romana, A.; Rosnet, P.; Roth, R.; Saito, N.; Sakuma, T.; Sandhoff, W.F.; Sanfratello, L.; Sato, H.D.; Savino, R.; Sekimoto, M.; Shaw, M.R.; Shibata, T.-A.; Sim, K.S.; Skank, H.D.; Smith, D.E.; Smith, G.D. [and others

2003-03-01

The PHENIX Muon Arms detect muons at rapidities of |y|=(1.2-2.4) with full azimuthal acceptance. Each muon arm must track and identify muons and provide good rejection of pions and kaons ({approx}10{sup -3}). In order to accomplish this we employ a radial field magnetic spectrometer with precision tracking (Muon Tracker) followed by a stack of absorber/low resolution tracking layers (Muon Identifier). The design, construction, testing and expected run parameters of both the muon tracker and the muon identifier are described.

Kootenay Lake Fertilization Experiment, Year 15 (North Arm) and Year 3 (South Arm) (2006) Report

Energy Technology Data Exchange (ETDEWEB)

Schindler, E.U.; Sebastian, D.; Andrusak, G.F. [Fish and Wildlife Science and Allocation, Ministry of Environment, Province of British Columbia

2009-07-01

This report summarizes results from the fifteenth year (2006) of nutrient additions to the North Arm of Kootenay Lake and three years of nutrient additions to the South Arm. Experimental fertilization of the lake has been conducted using an adaptive management approach in an effort to restore lake productivity lost as a result of nutrient uptake in upstream reservoirs. The primary objective of the experiment is to restore kokanee (Oncorhynchus nerka) populations, which are the main food source for Gerrard rainbow trout (Oncorhynchus mykiss) and bull trout (Salvelinus confluentus). The quantity of agricultural grade liquid fertilizer (10-34-0, ammonium polyphosphate and 28-0-0, urea ammonium nitrate) added to the North Arm in 2006 was 44.7 tonnes of P and 248.4 tonnes of N. The total fertilizer load added to the South Arm was 257 tonnes of nitrogen; no P was added. Kootenay Lake has an area of 395 km{sup 2}, a maximum depth of 150 m, a mean depth of 94 m, and a water renewal time of approximately two years. Kootenay Lake is a monomictic lake, generally mixing from late fall to early spring and stratifying during the summer. Surface water temperatures generally exceed 20 C for only a few weeks in July. Results of oxygen profiles were similar to previous years with the lake being well oxygenated from the surface to the bottom depths at all stations. Similar to past years, Secchi disc measurements at all stations in 2006 indicate a typical seasonal pattern of decreasing depths associated with the spring phytoplankton bloom, followed by increasing depths as the bloom gradually decreases by the late summer and fall. Total phosphorus (TP) ranged from 2-7 {micro}g/L and tended to decrease as summer advanced. Over the sampling season dissolved inorganic nitrogen (DIN) concentrations decreased, with the decline corresponding to nitrate (the dominant component of DIN) being utilized by phytoplankton during summer stratification. Owing to the importance of epilimnetic nitrate

Association between intramuscular fat in the arm following arm training and INSIG2

DEFF Research Database (Denmark)

Popadic Gacesa, J Z; Secher, N H; Momcilovic, M

2014-01-01

) ; mean ± standard deviation) carried out a 12-week two-arm elbow extensor training (10 maximal extensions with 1 min recovery between bouts) five times per day, five times per week. For 17 volunteers, upper arm muscle and adipose tissue [subcutaneous (SCAT) and intramuscular (IMAT)] volumes were.......0 ± 0.9%; GC/CC: %IMAT 0.6 ± 0.5% (P > 0.05). However, in the year following the training, accumulation of upper arm IMAT was twice as large in participants homozygous for the G allele (GG: Δ%IMAT +2.5 ± 0.8%; GC/CC: Δ%IMAT +1.1 ± 0.7%; P 

Design of a biomimetic robotic octopus arm.

Science.gov (United States)

Laschi, C; Mazzolai, B; Mattoli, V; Cianchetti, M; Dario, P

2009-03-01

This paper reports the rationale and design of a robotic arm, as inspired by an octopus arm. The octopus arm shows peculiar features, such as the ability to bend in all directions, to produce fast elongations, and to vary its stiffness. The octopus achieves these unique motor skills, thanks to its peculiar muscular structure, named muscular hydrostat. Different muscles arranged on orthogonal planes generate an antagonistic action on each other in the muscular hydrostat, which does not change its volume during muscle contractions, and allow bending and elongation of the arm and stiffness variation. By drawing inspiration from natural skills of octopus, and by analysing the geometry and mechanics of the muscular structure of its arm, we propose the design of a robot arm consisting of an artificial muscular hydrostat structure, which is completely soft and compliant, but also able to stiffen. In this paper, we discuss the design criteria of the robotic arm and how this design and the special arrangement of its muscular structure may bring the building of a robotic arm into being, by showing the results obtained by mathematical models and prototypical mock-ups.

Design of a biomimetic robotic octopus arm

Energy Technology Data Exchange (ETDEWEB)

Laschi, C; Cianchetti, M [Advanced Robotics Technology and Systems Laboratory, Scuola Superiore Sant' Anna, Pisa (Italy); Mazzolai, B; Dario, P [Italian Institute of Technology, Genova (Italy); Mattoli, V [Centre of Research in Microengineering Laboratory, Scuola Superiore Sant' Anna, Pisa (Italy)], E-mail: cecilia.laschi@sssup.it

2009-03-01

This paper reports the rationale and design of a robotic arm, as inspired by an octopus arm. The octopus arm shows peculiar features, such as the ability to bend in all directions, to produce fast elongations, and to vary its stiffness. The octopus achieves these unique motor skills, thanks to its peculiar muscular structure, named muscular hydrostat. Different muscles arranged on orthogonal planes generate an antagonistic action on each other in the muscular hydrostat, which does not change its volume during muscle contractions, and allow bending and elongation of the arm and stiffness variation. By drawing inspiration from natural skills of octopus, and by analysing the geometry and mechanics of the muscular structure of its arm, we propose the design of a robot arm consisting of an artificial muscular hydrostat structure, which is completely soft and compliant, but also able to stiffen. In this paper, we discuss the design criteria of the robotic arm and how this design and the special arrangement of its muscular structure may bring the building of a robotic arm into being, by showing the results obtained by mathematical models and prototypical mock-ups.

Design of a biomimetic robotic octopus arm

International Nuclear Information System (INIS)

Laschi, C; Cianchetti, M; Mazzolai, B; Dario, P; Mattoli, V

2009-01-01

This paper reports the rationale and design of a robotic arm, as inspired by an octopus arm. The octopus arm shows peculiar features, such as the ability to bend in all directions, to produce fast elongations, and to vary its stiffness. The octopus achieves these unique motor skills, thanks to its peculiar muscular structure, named muscular hydrostat. Different muscles arranged on orthogonal planes generate an antagonistic action on each other in the muscular hydrostat, which does not change its volume during muscle contractions, and allow bending and elongation of the arm and stiffness variation. By drawing inspiration from natural skills of octopus, and by analysing the geometry and mechanics of the muscular structure of its arm, we propose the design of a robot arm consisting of an artificial muscular hydrostat structure, which is completely soft and compliant, but also able to stiffen. In this paper, we discuss the design criteria of the robotic arm and how this design and the special arrangement of its muscular structure may bring the building of a robotic arm into being, by showing the results obtained by mathematical models and prototypical mock-ups

Arm-in-Arm Response Regulator Dimers Promote Intermolecular Signal Transduction

Energy Technology Data Exchange (ETDEWEB)

Baker, Anna W.; Satyshur, Kenneth A.; Morales, Neydis Moreno; Forest, Katrina T. (UW)

2016-02-01

Bacteriophytochrome photoreceptors (BphPs) and their cognate response regulators make up two-component signal transduction systems which direct bacteria to mount phenotypic responses to changes in environmental light quality. Most of these systems utilize single-domain response regulators to transduce signals through unknown pathways and mechanisms. Here we describe the photocycle and autophosphorylation kinetics of RtBphP1, a red light-regulated histidine kinase from the desert bacteriumRamlibacter tataouinensis. RtBphP1 undergoes red to far-red photoconversion with rapid thermal reversion to the dark state. RtBphP1 is autophosphorylated in the dark; this activity is inhibited under red light. The RtBphP1 cognate response regulator, theR. tataouinensisbacteriophytochrome response regulator (RtBRR), and a homolog, AtBRR fromAgrobacterium tumefaciens, crystallize unexpectedly as arm-in-arm dimers, reliant on a conserved hydrophobic motif, hFWAhL (where h is a hydrophobic M, V, L, or I residue). RtBRR and AtBRR dimerize distinctly from four structurally characterized phytochrome response regulators found in photosynthetic organisms and from all other receiver domain homodimers in the Protein Data Bank. A unique cacodylate-zinc-histidine tag metal organic framework yielded single-wavelength anomalous diffraction phases and may be of general interest. Examination of the effect of the BRR stoichiometry on signal transduction showed that phosphorylated RtBRR is accumulated more efficiently than the engineered monomeric RtBRR (RtBRR_mon) in phosphotransfer reactions. Thus, we conclude that arm-in-arm dimers are a relevant signaling intermediate in this class of two-component regulatory systems.

How does a planet excite multiple spiral arms?

Science.gov (United States)

Bae, Jaehan; Zhu, Zhaohuan

2018-01-01

Protoplanetary disk simulations show that a single planet excites multiple spiral arms in the background disk, potentially supported by the multi-armed spirals revealed with recent high-resolution observations in some disks. The existence of multiple spiral arms is of importance in many aspects. It is empirically found that the arm-to-arm separation increases as a function of the planetary mass, so one can use the morphology of observed spiral arms to infer the mass of unseen planets. In addition, a spiral arm opens a radial gap as it steepens into a shock, so when a planet excites multiple spiral arms it can open multiple gaps in the disk. Despite the important implications, however, the formation mechanism of multiple spiral arms has not been fully understood by far.In this talk, we explain how a planet excites multiple spiral arms. The gravitational potential of a planet can be decomposed into a Fourier series, a sum of individual azimuthal modes having different azimuthal wavenumbers. Using a linear wave theory, we first demonstrate that appropriate sets of Fourier decomposed waves can be in phase, raising a possibility that constructive interference among the waves can produce coherent structures - spiral arms. More than one spiral arm can form since such constructive interference can occur at different positions in the disk for different sets of waves. We then verify this hypothesis using a suite of two-dimensional hydrodynamic simulations. Finally, we present non-linear behavior in the formation of multiple spiral arms.

Managing new arms races

International Nuclear Information System (INIS)

Segal, G.

1992-01-01

The management of new arms races in the region of Asia-Pacific includes considerations of weapons trade and transfer in the region, with an emphasis on nuclear weapons proliferation. It deals with the problem of controlling the arms trade and the efforts to control conventional weapons and underlines the possible role and influence of Conference on Cooperation and Security in Europe (CSCE)

A Comparison of Image Quality and Radiation Exposure Between the Mini C-Arm and the Standard C-Arm.

Science.gov (United States)

van Rappard, Juliaan R M; Hummel, Willy A; de Jong, Tijmen; Mouës, Chantal M

2018-04-01

The use of intraoperative fluoroscopy has become mandatory in osseous hand surgery. Due to its overall practicality, the mini C-arm has gained popularity among hand surgeons over the standard C-arm. This study compares image quality and radiation exposure for patient and staff between the mini C-arm and the standard C-arm, both with flat panel technology. An observer-based subjective image quality study was performed using a contrast detail (CD) phantom. Five independent observers were asked to determine the smallest circles discernable to them. The results were plotted in a graph, forming a CD curve. From each curve, an image quality figure (IQF) was derived. A lower IQF equates to a better image quality. The patients' entrance skin dose was measured, and to obtain more information about the staff exposure dose, a perspex hand phantom was used. The scatter radiation was measured at various distances and angles relative to a central point on the detector. The IQF was significantly lower for the mini C-arm resulting in a better image quality. The patients' entrance dose was 10 times higher for the mini C-arm as compared with the standard C-arm, and the scatter radiation threefold. Due to its improved image quality and overall practicality, the mini C-arm is recommended for hand surgical procedures. To ensure that the surgeons' radiation exposure is not exceeding the safety limits, monitoring radiation exposure using mini C-arms with flat panel technology during surgery should be done in a future clinical study.

Changes in arm-hand function and arm-hand skill performance in patients after stroke during and after rehabilitation.

Science.gov (United States)

Franck, Johan Anton; Smeets, Rob Johannes Elise Marie; Seelen, Henk Alexander Maria

2017-01-01

Arm-hand rehabilitation programs applied in stroke rehabilitation frequently target specific populations and thus are less applicable in heterogeneous patient populations. Besides, changes in arm-hand function (AHF) and arm-hand skill performance (AHSP) during and after a specific and well-described rehabilitation treatment are often not well evaluated. This single-armed prospective cohort study featured three subgroups of stroke patients with either a severely, moderately or mildly impaired AHF. Rehabilitation treatment consisted of a Concise_Arm_and_hand_ Rehabilitation_Approach_in_Stroke (CARAS). Measurements at function and activity level were performed at admission, clinical discharge, 3, 6, 9 and 12 months after clinical discharge. Eighty-nine stroke patients (M/F:63/23; mean age:57.6yr (+/-10.6); post-stroke time:29.8 days (+/-20.1)) participated. All patients improved on AHF and arm-hand capacity during and after rehabilitation, except on grip strength in the severely affected subgroup. Largest gains occurred in patients with a moderately affected AHF. As to self-perceived AHSP, on average, all subgroups improved over time. A small percentage of patients declined regarding self-perceived AHSP post-rehabilitation. A majority of stroke patients across the whole arm-hand impairment severity spectrum significantly improved on AHF, arm-hand capacity and self-perceived AHSP. These were maintained up to one year post-rehabilitation. Results may serve as a control condition in future studies.

Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: Relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans

DEFF Research Database (Denmark)

Bøttger, Pernille; Doganli, Canan; Lykke-Hartmann, Karin

2012-01-01

The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium–potassium pump (Na+/K+-ATPase). Intriguingly, patients...... with classical FHM2 and RDP symptoms additionally suffer from other manifestations, such as epilepsy/seizures and developmental disabilities. Recent studies of FHM2 and RDP mouse models provide valuable tools for dissecting the vital roles of the Na+/K+-ATPases, and we discuss their relevance to the complex...

Polycythemia vera presenting with left hemichoreiform movements

International Nuclear Information System (INIS)

Mori, Tamiharu; Shimomura, Chikako; Ishibashi, Hiroshi; Tsujihata, Mitsuhiro; Nagataki, Shigenobu.

1985-01-01

A 65-year-old man developed abruptly choreiform movements involving the left face, arm and leg one day prior to admission. Physical examination revealed red face and palms, hyperemic conjunctivae and atrial fibrillations. Blood pressure was 168/90. Spleen was not palpable. Hemichoreiform movements of the left face and limbs were observed. There was no other neurological abnormalities. Laboratory studies showed RBC 880x10 4 , Hb 22.4g/dl, Hct 63%, WBC 8,100, platelets 22.9x10 4 , ESR 0mm/hr, RBC oxygen saturation 97%, serum iron 67 μg/dl, LDH 593 units, uric acid 14mg/dl, and erythropoietine (HI method) 19mIU/ml (normal 28-88). Bone marrow showed myeloid nucleated cell count 38.6x10 4 . ECG showed atrial fibrillations. Chest X-ray and scintigrams of liver and spleen were normal. CSF was normal. Brain CT scan on admission disclosed a low density area in right caudate nucleus. The choreiform movements were rapidly mitigated by venesection and by oral administration of haloperidol(3mg daily). There weeks after discontinuing haloperidol, the hemichorea returned. The routine hematology showed RBC 870x10 4 , Hb 19.8g/dl, Hct 62%, WBC 10,200, and plateret 37.4x10 4 . Another venesection reduced the chorea. Pipobroman was administered to control the polycythemia vera. He has been free of choreic movements thereafter. Choreiform movement is rarely observed in polycythemia vera. The pathogenesis is still unknown. The venous congestion, however, may play a role in this case because the choreic movements disappeared by venesection. (author)

Percutaneous endovascular therapy for symptomatic chronic total occlusion of the left subclavian artery.

Science.gov (United States)

Akif Cakar, Mehmet; Tatli, Ersun; Tokatli, Alptug; Kilic, Harun; Gunduz, Huseyin; Akdemir, Ramazan

2018-03-16

Percutaneous endovascular therapy is an accepted and preferred procedure for symptomatic subclavian artery disease. However, the technical feasibility and effectiveness of treating chronic total occlusion of the subclavian artery with this approach is uncertain. We aimed to evaluate the initial and mid-term results of endovascular therapy for patients with symptomatic chronic total occlusion of the left subclavian artery. Consecutive patients who underwent balloon angioplasty and stenting for chronic total occlusion of the left subclavian artery between January 2010 and February 2014 were included. Overall, 16 patients (10 male, 6 female; mean age 56 ± 13 years) underwent balloon angioplasty and stenting for chronic total occlusion of the left subclavian artery - 6 (37.5%) had arm claudication, 8 (50.0%) had vertebrobasilar insufficiency and 2 (12.5%) had coronary steal. 18 balloon-expandable stents were implanted to 15 patients. The central luminal passage was not achieved in one patient because of the subintimal position of guidewire (procedural success rate 93.8%). There were no procedure-related complications. Mean preprocedural and postprocedural systolic blood pressure differences between the upper extremities were 37 ± 13 (range 25-60) mmHg and 11 ± 9 (range 5-38) mmHg, respectively; the improvement was statistically significant. Outpatient follow-up revealed one asymptomatic restenosis at two years. Patency rate at two years was 93.3%. Balloon angioplasty and stenting for chronic total occlusion of the left subclavian artery is safe and effective, with good acute success rate and mid-term patency. Prospective randomised studies on larger patient populations would provide more precise results.

CHARACTERISTICS OF SPIRAL ARMS IN LATE-TYPE GALAXIES

International Nuclear Information System (INIS)

Honig, Z. N.; Reid, M. J.

2015-01-01

We have measured the positions of large numbers of H II regions in four nearly face-on, late-type, spiral galaxies: NGC 628 (M74), NGC 1232, NGC 3184, and NGC 5194 (M51). Fitting log-periodic spiral models to segments of each arm yields local estimates of spiral pitch angle and arm width. While pitch angles vary considerably along individual arms, among arms within a galaxy, and among galaxies, we find no systematic trend with galactocentric distance. We estimate the widths of the arm segments from the scatter in the distances of the H II regions from the spiral model. All major arms in these galaxies show spiral arm width increasing with distance from the galactic center, similar to the trend seen in the Milky Way. However, in the outermost parts of the galaxies, where massive star formation declines, some arms reverse this trend and narrow. We find that spiral arms often appear to be composed of segments of ∼5 kpc length, which join to form kinks and abrupt changes in pitch angle and arm width; these characteristics are consistent with properties seen in the large N-body simulations of D'Onghia et al. and others

Octopus movement: push right, go left.

Science.gov (United States)

Hooper, Scott L

2015-05-04

Octopus arms have essentially infinite degrees of freedom. New research shows that, despite this potentially great complexity, to locomote octopuses simply elongate one or more arms, thus pushing the body in the opposite direction, and do so without activating the arms in an ordered pattern. Copyright © 2015 Elsevier Ltd. All rights reserved.

Training the Unimpaired Arm Improves the Motion of the Impaired Arm and the Sitting Balance in Chronic Stroke Survivors.

Science.gov (United States)

De Luca, Alice; Giannoni, Psiche; Vernetti, Honore; Capra, Cristina; Lentino, Carmelo; Checchia, Giovanni Antonio; Casadio, Maura

2017-07-01

Robot-assisted rehabilitation of stroke survivors mainly focuses on the impaired side of the body while the role of the unimpaired side in the recovery after stroke is still controversial. The goal of this study is to investigate the influence on sitting balance and paretic arm functions of a training protocol based on movements of the unimpaired arm. Sixteen chronic stroke survivors underwent nineteen training sessions, in which they performed active movements with the unimpaired arm supported by a passive exoskeleton. Performance of the trunk and upper limbs was evaluated before treatment, after treatment and at six months follow up with clinical scales and an instrumented evaluation. A reaching test executed with the exoskeleton was used to assess changes in performance of both arms. The treatment based on the unimpaired arm's movements executed with a correct body posture led to benefits in control of the trunk and of both the trained and the untrained arm. The amount of impaired arm improvement in the Fugl-Meyer score was comparable to the outcome of robotic treatments focused directly on this arm. Our results highlight the importance of taking into account all body schema in the rehabilitation robotic program, instead of focusing only on the impaired side of the body.

Gambling problems and the impact of family in UK armed forces veterans.

Science.gov (United States)

Dighton, Glen; Roberts, Elystan; Hoon, Alice E; Dymond, Simon

2018-05-09

Background and aims International evidence indicates elevated problem gambling rates in armed forces veterans compared with the general population. Gambling problems adversely impact one's family, and family-related variables may increase vulnerability to gambling-related harm. Little is known, however, about gambling problems in the United Kingdom (UK) veterans or to what extent family variables, such as parenting history and experience of domestic violence, influence veterans' gambling. Methods We compared veterans (n = 257) and sex- and age-matched controls (n = 514) drawn from the 2007 Adult Psychiatric Morbidity Survey on gambling, financial management, domestic violence, childhood parental presence, and experience of stressful life events. Veterans who left the military before or after 4 years of service were compared. Results Problem gambling was significantly more prevalent in veterans (1.4%) than non-veterans (0.2%), and the impact of gambling problems on the family was specific to male veterans, particularly those who had experienced a traumatic event after the age of 16, and those who were more likely to have been physically attacked by their partner. Overall, this study revealed that the UK armed forces veterans report a higher prevalence rate of problem gambling compared with non-veterans, with potential negative impact on family life.

Picking Robot Arm Trajectory Planning Method

Directory of Open Access Journals (Sweden)

Zhang Zhiyong

2014-01-01

Full Text Available The picking robot arm is scheduled to complete picking tasks in the working space, to overcome the shaking vibration to improve the picking stability, its movement should follow specific consistence trajectory points. Usually we should give definite multiple feature picking points, map their inverse kinematics to the joint space, establish motion equation for the corresponding point in the joint space, then follow these equations motion for the interpolation on the joint so that we can meet the movement requirements. Trajectory planning is decisive significance for accuracy and stability of controlling robot arm. The key issue that picking arm complete picking task will be come true by trajectory planning, namely, robot arm track the desired trajectory. which based on kinematics and statics picking analysis in a joint space according to the requirements of picking tasks, and obtain the position and orientation for picking robot arm, study and calculate the theory of trajectory parameters timely.

Arm locking with Doppler estimation errors

Energy Technology Data Exchange (ETDEWEB)

Yu Yinan; Wand, Vinzenz; Mitryk, Shawn; Mueller, Guido, E-mail: yinan@phys.ufl.ed [Department of Physics, University of Florida, Gainesville, FL 32611 (United States)

2010-05-01

At the University of Florida we developed the University of Florida LISA Interferometer Simulator (UFLIS) in order to study LISA interferometry with hardware in the loop at a system level. One of the proposed laser frequency stabilization techniques in LISA is arm locking. Arm locking uses an adequately filtered linear combination of the LISA arm signals as a frequency reference. We will report about experiments in which we demonstrated arm locking using UFLIS. During these experiments we also discovered a problem associated with the Doppler shift of the return beam. The initial arm locking publications assumed that this Doppler shift can perfectly be subtracted inside the phasemeter or adds an insignificant offset to the sensor signal. However, the remaining Doppler knowledge error will cause a constant change in the laser frequency if unaccounted for. Several ways to circumvent this problem have been identified. We performed detailed simulations and started preliminary experiments to verify the performance of the proposed new controller designs.

Supporting the President's Arms Control and Nonproliferation Agenda: Transparency and Verification for Nuclear Arms Reductions

International Nuclear Information System (INIS)

Doyle, James E.; Meek, Elizabeth

2009-01-01

The President's arms control and nonproliferation agenda is still evolving and the details of initiatives supporting it remain undefined. This means that DOE, NNSA, NA-20, NA-24 and the national laboratories can help define the agenda, and the policies and the initiatives to support it. This will require effective internal and interagency coordination. The arms control and nonproliferation agenda is broad and includes the path-breaking goal of creating conditions for the elimination of nuclear weapons. Responsibility for various elements of the agenda will be widely scattered across the interagency. Therefore an interagency mapping exercise should be performed to identify the key points of engagement within NNSA and other agencies for creating effective policy coordination mechanisms. These can include informal networks, working groups, coordinating committees, interagency task forces, etc. It will be important for NA-20 and NA-24 to get a seat at the table and a functional role in many of these coordinating bodies. The arms control and nonproliferation agenda comprises both mature and developing policy initiatives. The more mature elements such as CTBT ratification and a follow-on strategic nuclear arms treaty with Russia have defined milestones. However, recent press reports indicate that even the START follow-on strategic arms pact that is planned to be complete by the end of 2009 may take significantly longer and be more expansive in scope. The Russians called for proposals to count non-deployed as well as deployed warheads. Other elements of the agenda such as FMCT, future bilateral nuclear arms reductions following a START follow-on treaty, nuclear posture changes, preparations for an international nuclear security summit, strengthened international safeguards and multilateral verification are in much earlier stages of development. For this reason any survey of arms control capabilities within the USG should be structured to address potential needs across the

Simulation of Octopus Arm Based on Coupled CPGs

Directory of Open Access Journals (Sweden)

Juan Tian

2015-01-01

Full Text Available The octopus arm has attracted many researchers’ interests and became a research hot spot because of its amazing features. Several dynamic models inspired by an octopus arm are presented to realize the structure with a large number of degrees of freedom. The octopus arm is made of a soft material introducing high-dimensionality, nonlinearity, and elasticity, which makes the octopus arm difficult to control. In this paper, three coupled central pattern generators (CPGs are built and a 2-dimensional dynamic model of the octopus arm is presented to explore possible strategies of the octopus movement control. And the CPGs’ signals treated as activation are added on the ventral, dorsal, and transversal sides, respectively. The effects of the octopus arm are discussed when the parameters of the CPGs are changed. Simulations show that the octopus arm movements are mainly determined by the shapes of three CPGs’ phase diagrams. Therefore, some locomotion modes are supposed to be embedded in the neuromuscular system of the octopus arm. And the octopus arm movements can be achieved by modulating the parameters of the CPGs. The results are beneficial for researchers to understand the octopus movement further.