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Focal dystonia

Scott A Norris, H A Jinnah, Alberto J Espay, Christine Klein, Norbert Brüggemann, Richard L Barbano, Irene Andonia C Malaty, Ramon L Rodriguez, Marie Vidailhet, Emmanuel Roze, Stephen G Reich, Brian D Berman, Mark S LeDoux, Sarah Pirio Richardson, Pinky Agarwal, Zoltan Mari, William G Ondo, Ludy C Shih, Susan H Fox, Alfredo Berardelli, Claudia M Testa, Florence Ching-Fen Cheng, Daniel Truong, Fatta B Nahab, Tao Xie, Mark Hallett, Ami R Rosen, Laura J Wright, Joel S Perlmutter
BACKGROUND: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort. METHODS: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Asanori Kiyuna, Norimoto Kise, Munehisa Hiratsuka, Shunsuke Kondo, Takayuki Uehara, Hiroyuki Maeda, Akira Ganaha, Mikio Suzuki
OBJECTIVES: Spasmodic dysphonia (SD) is considered a focal dystonia. However, the detailed pathophysiology of SD remains unclear, despite the detection of abnormal activity in several brain regions. The aim of this study was to clarify the pathophysiological background of SD. STUDY DESIGN: This is a case-control study. METHODS: Both task-related brain activity measured by functional magnetic resonance imaging by reading the five-digit numbers and resting-state functional connectivity (FC) measured by 150 T2-weighted echo planar images acquired without any task were investigated in 12 patients with adductor SD and in 16 healthy controls...
October 13, 2016: Journal of Voice: Official Journal of the Voice Foundation
M Svetel, A Tomić, M Mijajlović, V Dobričić, I Novaković, T Pekmezović, L Brajković, V S Kostić
BACKGROUND AND PURPOSE: Mutations in the GCH1 gene, encoding GTP cyclohydrolase 1, the enzyme critically important for dopamine production in nigrostriatal neurons, are the most common cause of dopa-responsive dystonia (DRD), characterized predominantly by limb dystonia, although parkinsonian features may also be present. It has been suggested that DRD is a neurochemical rather than neurodegenerative disorder. METHODS: Transcranial brain sonography, which might be a risk marker for nigral injury, was obtained from 141 subjects divided into four groups: (i) 11 patients with genetically confirmed DRD; (ii) 55 consecutive patients with Parkinson's disease (PD); (iii) 30 patients diagnosed as isolated adult-onset focal dystonia; and (iv) 45 healthy controls (HCs)...
October 12, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Matteo Bologna, Giulia Paparella, Andrea Fabbrini, Giorgio Leodori, Lorenzo Rocchi, Mark Hallett, Alfredo Berardelli
OBJECTIVE: To investigate the cerebellar inhibitory influence on the primary motor cortex in patients with focal dystonia using a cerebellar continuous theta-burst stimulation protocol (cTBS) and to evaluate any relationship with movement abnormalities. METHODS: Thirteen patients with focal hand dystonia, 13 patients with cervical dystonia and 13 healthy subjects underwent two sessions: (i) cTBS over the cerebellar hemisphere (real cTBS) and (ii) cTBS over the neck muscles (sham cTBS)...
September 15, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Christos I Ioannou, Shinichi Furuya, Eckart Altenmüller
Five musicians suffering from focal dystonia participated in a pilot study that examined the feasibility of an experimental protocol designed to assess musicians' motor performance under stress. Electrocardiography, free cortisol levels, and subjective assessments were used to monitor alterations of the hypothalamic-pituitary-adrenal axis. As measures of motor outcome, temporal variability of finger movements and muscular cocontraction of the wrist flexor and extensor were assessed. Findings suggest that the specific experimental design could be successfully applied...
August 11, 2016: Journal of Motor Behavior
Kirsten E Zeuner, Albert Acewicz, Arne Knutzen, Dirk Dressler, Katja Lohmann, Karsten Witt
Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A polymorphism (rs1800497). This study addresses the question of whether the DRD2/ANKK1-Taq1A polymorphism is a risk factor for writer's cramp. We determined the DRD2/ANKK1-Taq1A polymorphism 34 patients with writer's cramp compared to 67 age matched controls...
October 4, 2016: Journal of Neurogenetics
Roberto Erro, Stephanie T Hirschbichler, Lucia Ricciardi, Agata Ryterska, Elena Antelmi, Christos Ganos, Carla Cordivari, Michele Tinazzi, Mark J Edwards, Kailash P Bhatia
BACKGROUND: 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...
September 28, 2016: Brain and Cognition
Adolfo Ramirez-Zamora, Brian Kaszuba, Lucy Gee, Julia Prusik, Eric Molho, Meghan Wilock, Damian Shin, Julie G Pilitsis
OBJECTIVES: Dystonic tremor (DT) is defined as a postural/kinetic tremor occurring in the body region affected by dystonia. DT is typically characterized by focal tremors with irregular amplitudes and variable frequencies typically below 7Hz. Pharmacological treatment is generally unsuccessful and guidelines for deep brain stimulation (DBS) targeting and indications are scarce. In this article, we present the outcome and neurophysiologic data of two patients with refractory, focal limb DT treated with Globus Pallidus interna (Gpi) DBS and critically review the current literature regarding surgical treatment of DT discussing stereotactic targets and treatment considerations...
November 2016: Clinical Neurology and Neurosurgery
Emilie Viollet, Arnaud Dupeyron, Corine Gagnard-Landra
OBJECTIVE: Pisa syndrome (PS) is a common abnormal posture of the trunk in Parkinson disease which is defined as a lateral flexion of the spine in the coronal plane and/or scoliosis. Few studies described focal treatment of dystonia of paraspinal muscles, with unpredictable results, while the participation of quadratus lumborum and external oblique homolateral seem to be interesting. The aim of this study is to estimate the effects of treatment by botulinum toxin of trunk muscles dystonia in PS...
September 2016: Annals of Physical and Rehabilitation Medicine
Cassandra M List, Nicholas C Ketchum
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
L Williams, E McGovern, O Kimmich, A Molloy, I Beiser, J S Butler, F Molloy, P Logan, D G Healy, T Lynch, R Walsh, L Cassidy, P Moriarty, H Moore, T McSwiney, C Walsh, S O'Riordan, M Hutchinson
BACKGROUND: Adult onset idiopathic isolated focal dystonia presents with a number of phenotypes. Reported prevalence rates vary considerably; well-characterized cohorts are important to our understanding of this disorder. AIM: To perform a nationwide epidemiological study of adult onset idiopathic isolated focal dystonia in the Republic of Ireland. METHODS: Patients with adult onset idiopathic isolated focal dystonia were recruited from multiple sources...
September 19, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Mallory Jackman, Mehdi Delrobaei, Fariborz Rahimi, S Farokh Atashzar, Mahya Shahbazi, Rajni Patel, Mandar Jog
INTRODUCTION: Writer's cramp is a specific focal hand dystonia causing abnormal posturing and tremor in the upper limb. The most popular medical intervention, botulinum neurotoxin type A (BoNT-A) therapy, is variably effective for 50-70% of patients. BoNT-A non-responders undergo ineffective treatment and may experience significant side effects. Various assessments have been used to determine response prediction to BoNT-A, but not in the same population of patients. METHODS: A comprehensive assessment was employed to measure various symptom aspects...
2016: Tremor and Other Hyperkinetic Movements
Won Joon Sohn, Chuanxin M Niu, Terence D Sanger
OBJECTIVE: Motor overflow is a common and frustrating symptom of dystonia, manifested as unintentional muscle contraction that occurs during an intended voluntary movement. Although it is suspected that motor overflow is due to cortical disorganization in some types of dystonia (e.g. focal hand dystonia), it remains elusive which mechanisms could initiate and, more importantly, perpetuate motor overflow. We hypothesize that distinct motor elements have low risk of motor overflow if their sensory inputs remain statistically independent...
October 2016: Journal of Neural Engineering
S Farokh Atashzar, Mahya Shahbazi, Christopher Ward, Olivia Samotus, Mehdi Delrobaei, Fariborz Rahimi, Jack Lee, Mallory Jackman, Mandar Jog, Rajni Patel
Abnormality of sensorimotor integration in the basal ganglia and cortex has been reported in the literature for patients with task-specific focal hand dystonia (FHD). In this study, we investigate the effect of manipulation of kinesthetic input in people living with writer's cramp disorder (a major form of FHD). For this purpose, severity of dystonia is studied for 11 participants while the symptoms of 7 participants have been tracked during 5 sessions of assessment and Botulinum toxin injection (BoNT-A) therapy (one of the current suggested therapies for dystonia)...
August 19, 2016: IEEE Transactions on Haptics
Michael Zech, Angela Jochim, Sylvia Boesch, Sandrina Weber, Tobias Meindl, Annette Peters, Christian Gieger, Joerg Mueller, Michael Messner, Andres Ceballos-Baumann, Werner Poewe, Bernhard Haslinger, Juliane Winkelmann
BACKGROUND: An increasing number of rare, functionally relevant non-c.907_909delGAG (non-ΔGAG) variants in TOR1A have been recognized, associated with phenotypic expressions different from classic DYT1 childhood-onset generalized dystonia. Only recently, DYT1 genotype-phenotype correlations have been proposed, awaiting further elucidation in independent cohorts. METHODS: We screened the entire coding sequence and the 5'-UTR region of TOR1A for rare non-ΔGAG sequence variants in a large series of 940 individuals with various forms of isolated dystonia as well as in 376 ancestry-matched controls...
October 2016: Parkinsonism & related Disorders
Cecile Gallea, Silvina G Horovitz, Muslimah 'Ali Najee-Ullah, Mark Hallett
Handwriting with the dominant hand is a highly skilled task singularly acquired in humans. This skill is the isolated deficit in patients with writer's cramp (WC), a form of dystonia with maladaptive plasticity, acquired through intensive and repetitive motor practice. When a skill is highly trained, a motor program is created in the brain to execute the same movement kinematics regardless of the effector used for the task. The task- and effector-specific symptoms in WC suggest that a problem particularly occurs in the brain when the writing motor program is carried out by the dominant hand...
July 28, 2016: Human Brain Mapping
Enrico Premi, Matteo Diano, Stefano Gazzina, Franco Cauda, Vera Gualeni, Michele Tinazzi, Mirta Fiorio, Paolo Liberini, Clara Lazzarini, Silvana Archetti, Giorgio Biasotto, Marinella Turla, Valeria Bertasi, Maria Cotelli, Roberto Gasparotti, Alessandro Padovani, Barbara Borroni
BACKGROUND: DYT1 mutation is characterized by focal to generalized dystonia and incomplete penetrance. To explore the complex perturbations in the different neural networks and the mutual interactions among them, we studied symptomatic and asymptomatic DTY1 mutation carriers by resting-state functional MRI. METHODS: A total of 7 symptomatic DYT1, 10 asymptomatic DYT1, and 26 healthy controls were considered. Resting-state functional MRI (Oxford Centre for Functional MRI of the Brain) [FMRIB] Software Library) (FSL) MELODIC, dual regression, (as a toolbox of FSL, with Nets is referred to "networks") (FSLNets) (http://fsl...
July 25, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Antonio Costantini, Erika Trevi, Maria Immacolata Pala, Roberto Fancellu
Primary torsion dystonia is a movement disorder characterised by sustained or intermittent involuntary muscle contractions causing abnormal movements, postures or both. In this study, 3 brothers affected by inherited primary dystonia 16 (DYT16) began an oral therapy with high-dose thiamine from November to December 2015. After 3 months, an important improvement of the motor symptoms was observed. Our results support the hypothesis that pathogenesis of the symptoms might be related to a dysfunction in mitochondrial oxidative phosphorylation due to a focal impairment of thiamine-dependent processes...
2016: BMJ Case Reports
Shiro Horisawa, Shinichi Goto, Takeshi Nakajima, Taku Ochiai, Takakazu Kawamata, Takaomi Taira
BACKGROUND: Hairdresser's dystonia is a rarely reported form of focal hand dystonia, and the clinical course and treatment remains poorly understood. OBJECTIVES: The aim of this report was to clarify the impact of thalamotomy on hairdresser's dystonia. METHODS: Four consecutive patients with hairdresser's task-specific dystonia evaluated at Tokyo Women's Medical University Hospital between 2008 and 2013 were treated with stereotactic thalamotomy, and were recruited for this case series...
July 20, 2016: Stereotactic and Functional Neurosurgery
Mandar Jog, Theodore Wein, Meetu Bhogal, Sonja Dhani, Robert Miller, Farooq Ismail, Richard Beauchamp, Grace Trentin
BACKGROUND: OnabotulinumtoxinA is an efficacious treatment option for patients with various conditions. Although studies have reported on the efficacy of onabotulinumtoxinA, quality of life (QoL) data are limited. This study evaluated QoL in patients treated with onabotulinumtoxinA across various therapeutic indications. METHODS: MDs on BOTOX Utility (MOBILITY) was a prospective, multicenter, observational Canadian study in patients initiating (naïve) or receiving ongoing (maintenance) onabotulinumtoxinA treatment...
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
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