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https://www.readbyqxmd.com/read/29350600/long-term-outcome-of-pallidal-stimulation-for-meige-syndrome
#1
Shiro Horisawa, Taku Ochiai, Shinichi Goto, Takeshi Nakajima, Nobuhiko Takeda, Takakazu Kawamata, Takaomi Taira
OBJECTIVE Meige syndrome is characterized by blepharospasm and varied subphenotypes of craniocervical dystonia. Current literature on pallidal surgery for Meige syndrome is limited to case reports and a few small-scale studies. The authors investigated the clinical outcomes of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with Meige syndrome. METHODS Sixteen patients who underwent GPi DBS at the Tokyo Women's Medical University Hospital between 2002 and 2015 were included in this study...
January 19, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29348536/surround-inhibition-can-instantly-be-modulated-by-changing-the-attentional-focus
#2
Yves-Alain Kuhn, Martin Keller, Benedikt Lauber, Wolfgang Taube
To further investigate the mechanism of surround inhibition (SI) and to determine whether adopting different attentional strategies might have an impact on the modulation of SI, the effects of adopting an external (EF) or internal focus of attention (IF) on SI and motor performance were investigated. While performing an index flexion with either an EF or IF, transcranial magnetic stimulation was applied at various time points in 14 healthy subjects. When adopting an EF compared to an IF, the results show an improved motor performance (+14...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29348266/dopamine-receptor-agonist-treatment-for-idiopathic-dystonia-a-reappraisal-in-humans-and-mice
#3
Xueliang Fan, Yuping Donsante, H A Jinnah, Ellen J Hess
Although dystonia is often associated with abnormal dopamine neurotransmission, dopaminergic drugs are not currently used to treat dystonia because there is a general view that dopaminergic drugs are ineffective. However, there is little conclusive evidence to support or refute this assumption. Therefore, to assess the therapeutic potential of these compounds, we analyzed results from multiple trials of dopamine receptor agonists in patients with idiopathic dystonias and also tested the efficacy of dopamine receptor agonists in a mouse model of generalized dystonia...
January 18, 2018: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29343471/infantile-onset-hand-dystonia-with-intellectual-disability-clues-to-arx-mutations
#4
David P Breen, Saadet Mercimek-Andrews, Anthony E Lang
No abstract text is available yet for this article.
January 17, 2018: Neurology
https://www.readbyqxmd.com/read/29343142/a-500%C3%A2-u-2%C3%A2-ml-dilution-of-abobotulinumtoxina-vs-placebo-randomized-study-in-cervical-dystonia
#5
Mark F Lew, Allison Brashear, Khashayar Dashtipour, Stuart Isaacson, Robert A Hauser, Pascal Maisonobe, Daniel Snyder, William Ondo
Purpose/aim: AbobotulinumtoxinA (Dysport®, Ipsen Biopharmaceuticals, Inc., Basking Ridge, NJ, USA) is an acetylcholine release inhibitor and a neuromuscular blocking agent. The United States prescribing information for abobotulinumtoxinA previously indicated only one dilution for cervical dystonia: 500 U/1 mL. Clinical trial data supporting a larger volume with a 500 U/2 mL dilution would offer clinicians flexibility with injection volume to better meet patient needs. MATERIALS AND METHODS: We conducted a 12-week, phase 3b, multicenter, randomized, double-blind, placebo-controlled trial (NCT01753310)...
January 17, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29342448/generation-of-induced-pluripotent-stem-cell-line-cssi002-a-2851-from-a-patient-with-juvenile-huntington-disease
#6
Jessica Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Ferdinando Squitieri, Angelo Luigi Vescovi
Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats. The juvenile form (JHD) may begin before the age of 20years and is associated with expanded alleles as long as 60 or more CAG repeats. In this study, induced pluripotent stem cells were generated from skin fibroblasts of a 8-year-old child carrying a large size mutation of 84 CAG repeats in the HTT gene. HD appeared at age 3 with mixed psychiatric (i...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29340715/postural-control-and-the-relation-with-cervical-sensorimotor-control-in-patients-with-idiopathic-adult-onset-cervical-dystonia
#7
J De Pauw, R Mercelis, A Hallemans, G Van Gils, S Truijen, P Cras, W De Hertogh
Cervical dystonia (CD) is a movement disorder characterized by involuntary muscle contractions leading to an abnormal head posture or movements of the neck. Dysfunctions in somatosensory integration are present and previous data showed enlarged postural sway in stance. Postural control during quiet sitting and the correlation with cervical sensorimotor control were investigated. Postural control during quiet sitting was measured via body sway parameters in 23 patients with CD, regularly receiving botulinum toxin treatment and compared with 36 healthy controls...
January 16, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#8
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29332087/adaptive-brain-stimulation-for-movement-disorders
#9
Martijn Beudel, Hayriye Cagnan, Simon Little
Deep brain stimulation (DBS) has markedly changed how we treat movement disorders including Parkinson's disease (PD), dystonia, and essential tremor (ET). However, despite its demonstrable clinical benefit, DBS is often limited by side effects and partial efficacy. These limitations may be due in part to the fact that DBS interferes with both pathological and physiological neural activities. DBS could, therefore, be potentially improved were it applied selectively and only at times of enhanced pathological activity...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332086/current-and-expected-advances-in-deep-brain-stimulation-for-movement-disorders
#10
Ausaf A Bari, Jasmine Thum, Diana Babayan, Andres M Lozano
Deep brain stimulation (DBS) has become an established treatment for medically refractory movement disorders including Parkinson's disease, essential tremor, and dystonia. The field of DBS continues to evolve with advances in patient selection, target identification, electrode and pulse generator technology, and the development of more effective stimulation paradigms such as closed-loop stimulation. Furthermore, as the safety and efficacy of DBS improves through better hardware design and deeper understanding of its mechanisms of action, the indications for DBS will continue to expand to cover a wider range of disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332077/stereotactic-radiofrequency-lesioning-for-movement-disorders
#11
Takaomi Taira, Shiro Horisawa, Nobuhiko Takeda, Prajakta Ghate
During the past 2 decades, deep brain stimulation (DBS) took over the position of radiofrequency (RF) lesioning of thalamic or pallidal targets for control of movement disorders. Superiority of DBS over RF lesioning is widely accepted, and most neurosurgeons even regard RF lesioning to be old-fashioned and dangerous. Such concepts emerged from the data of old stereotactic operations with ventriculography and without computerized planning. Hardware-related complications are not negligible in long-term DBS therapy, and DBS only controls the symptoms...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332076/image-guided-asleep-deep-brain-stimulation
#12
Andrew L Ko, Kim J Burchiel
Deep brain stimulation (DBS) has become an established treatment for medically refractory movement disorders including Parkinson's disease, essential tremor, and dystonia. The field of DBS continues to evolve with advances in patient selection, target identification, electrode and pulse generator technology, and the development of more effective stimulation paradigms such as closed-loop stimulation. Furthermore, as the safety and efficacy of DBS improves through better hardware design and deeper understanding of its mechanisms of action, the indications for DBS will continue to expand to cover a wider range of disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332075/patient-evaluation-and-selection-for-movement-disorders-surgery-the-changing-spectrum-of-indications
#13
Steffen Paschen, Günther Deuschl
This report summarizes the state-of-the-art and controversies around patient selection for deep brain stimulation (DBS) for various conditions. Parkinson's disease (PD): several class I studies have shown superiority of DBS over best medical treatment for advanced PD with fluctuations and further inclusion criteria. One class I study suggests that PD patients with early motor complications might gain more quality of life if operated within 3 years after the onset of fluctuations. The subthalamic nucleus (STN) is still the standard target...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332072/medical-management-of-movement-disorders
#14
Marina Picillo, Renato P Munhoz
Pharmacological treatment is the cornerstone in the management of movement disorders. Although most available treatment options have no impact on the underlying process of each movement disorder, symptomatic therapies can significantly improve patient's quality of life and level of disability. Here, we review the current knowledge on clinical symptomatic management of Parkinson's disease (both early and advanced stages), essential tremor, dystonia, and chorea. Ideally, treatment should be carried out by specialists with reasonable experience in movement disorders, as it needs to be tailored for each patient depending on several appraisals, including but not limited to patients' needs, compliance issues, potential side effects, caregiver support, and presence of comorbidities...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332071/clinical-presentation-and-prognosis-of-common-movement-disorders
#15
Jennifer Han, Samay Jain
Great progress has been made in expanding our understanding of the natural history of movement disorders, leading to impressive advancements in their medical and surgical management. Movement disorders are a diverse group of diseases, varying widely in clinical characteristics and evolution. Some are monosymptomatic while others have associated motor and nonmotor features. Some are static while others follow a progressive course. This chapter will review common primary and secondary movement disorders: Parkinson disease and other forms of Parkinsonism, essential tremor and its differential diagnoses, dystonia and tic disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332070/pathophysiologic-basis-of-movement-disorders
#16
Thomas Wichmann
Movement disorders are common and functionally disabling neurologic diseases. Studies over the last decades have investigated the pathophysiology of these diseases in considerable detail, leading to significant insights into their generation of motor disability. While genetically and clinically heterogeneous, most of them are accompanied by prominent and characteristic changes in firing rates and patterns in the basal ganglia, thalamus, and cortex. In recent years, researchers have placed increasing emphasis on the importance of oscillatory changes in firing in these structures, and have discovered that brain areas that were previously considered to be remote from the basal ganglia (such as the cerebellum and the pedunculopontine nucleus) are also highly significant in these disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29331561/long-term-outcome-of-neurological-wilson-s-disease
#17
Harald Hefter, Osman Tezayak, Dietmar Rosenthal
INTRODUCTION: Aim of the study was to characterize the clinical spectrum of long-term treated patients with Wilson's disease (WD) and to identify risk factors influencing long-term outcome. METHODS: In a cross-sectional study 30 WD-patients being treated for at least 2.5 and up to 31 years underwent a detailed clinical investigation, scoring of clinical findings yielding 7 motor and 3 non-motor subscores as well as laboratory testing. A factor analysis of these subscores and laboratory parameters was performed to detect those items with the highest influence on outcome, an ANOVA and subgroup analysis tested the influence of age, age at onset of diagnosis and duration of treatment on outcome...
January 4, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29331287/characterizing-the-effects-of-deep-brain-stimulation-with-magnetoencephalography-a-review
#18
REVIEW
Irene E Harmsen, Nathan C Rowland, Richard A Wennberg, Andres M Lozano
BACKGROUND: Deep brain stimulation (DBS) is an important form of neuromodulation that is being applied to patients with motor, mood, or cognitive circuit disorders. Despite the efficacy and widespread use of DBS, the precise mechanisms by which it works remain unknown. Over the last decade, magnetoencephalography (MEG) has become an important functional neuroimaging technique used to study DBS. OBJECTIVE: This review summarizes the literature related to the use of MEG to characterize the effects of DBS...
January 4, 2018: Brain Stimulation
https://www.readbyqxmd.com/read/29328016/-the-yips-a-movement-disorder-among-golfers
#19
E van Wensen, B P van de Warrenburg
BACKGROUND: Although the yips occurs commonly in golfers, this neurological movement disorder is a relatively unknown phenomenon among physicians. CASE DESCRIPTION: A 47-year-old golf player developed a disturbing, neurological movement disorder that manifested when playing golf: the yips. These jerks occurred when putting, but not during practice rounds. The patient's father suffered from similar yips. CONCLUSION: The yips is a task-specific dystonia, which can also manifest in players of other sports...
2018: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29327099/-genetics-of-tremor
#20
REVIEW
G Kuhlenbäumer, F Hopfner
BACKGROUND: Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor. OBJECTIVE: The genetics of essential tremor and differential diagnosis of monogenic diseases with the symptom tremor. MATERIAL AND METHODS: Literature search and search of clinical genetics databases, e.g. OMIM, GeneReviews, MDSGene and the German Neurological Society (DGN) guidelines. RESULTS: The genetics of essential tremor remain unresolved in spite of large, adequately powered studies...
January 11, 2018: Der Nervenarzt
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