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https://www.readbyqxmd.com/read/29161622/on-denny-brown-s-spastic-dystonia-what-is-it-and-what-causes-it
#1
REVIEW
Jakob Lorentzen, Maud Pradines, Jean-Michel Gracies, Jens Bo Nielsen
In this review, we will work around two simple definitions of two different entities, which most often co-exist in patients with lesions to central motor pathways: Spasticity is "Enhanced excitability of velocity-dependent responses to phasic stretch at rest", which will not be the subject of this review, while Spastic dystonia is tonic, chronic, involuntary muscle contraction in the absence of any stretch or any voluntary command (Gracies, 2005). Spastic dystonia is a much less well understood entity that will be the subject this review...
November 4, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29154038/dna-damage-and-neurodegenerative-phenotypes-in-aged-ciz1-null-mice
#2
Mohammad Moshahid Khan, Jianfeng Xiao, Damini Patel, Mark S LeDoux
Cell-cycle dysfunction and faulty DNA repair are closely intertwined pathobiological processes that may contribute to several neurodegenerative disorders. CDKN1A interacting zinc finger protein 1 (CIZ1) plays a critical role in DNA replication and cell-cycle progression at the G1/S checkpoint. Germline or somatic variants in CIZ1 have been linked to several neural and extra-neural diseases. Recently, we showed that germline knockout of Ciz1 is associated with motor and hematological abnormalities in young adult mice...
November 16, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29151795/the-influence-of-occlusal-stabilization-appliances-on-cervical-dystonia-symptoms
#3
Camelia Navrotchi, Mîndra Eugenia Badea
Objectives: The aim of this study was to assess the therapeutic efficiency of the occlusal stabilization appliance (OSA) in patients with cervical dystonia (CD). Methods: The study included 11 patients aged between 29 and 80 years, 7 women and 4 men, diagnosed with primary CD. The patients underwent an extra- and intra-oral clinical examination, followed by para-clinical examinations, necessary for the specifications of the OSA. The following data were recorded: demographic parameters, CD duration, management of the disease, dental impression, recording of the centric relationship, recording of the position of the upper jaw with the facial bow...
2017: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29150865/enhanced-mu-opioid-receptor-dependent-opioidergic-modulation-of-striatal-cholinergic-transmission-in-dyt1-dystonia
#4
Giulia Ponterio, Annalisa Tassone, Giuseppe Sciamanna, Valentina Vanni, Maria Meringolo, Massimo Santoro, Nicola Biagio Mercuri, Paola Bonsi, Antonio Pisani
BACKGROUND: Mu opioid receptor activation modulates acetylcholine release in the dorsal striatum, an area deeply involved in motor function, habit formation, and reinforcement learning as well as in the pathophysiology of different movement disorders, such as dystonia. Although the role of opioids in drug reward and addiction is well established, their involvement in motor dysfunction remains largely unexplored. METHODS: We used a multidisciplinary approach to investigate the responses to mu activation in 2 mouse models of DYT1 dystonia (Tor1a(+/Δgag) mice, Tor1a(+/-) torsinA null mice, and their respective wild-types)...
November 18, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29148568/intrathecal-baclofen-in-dyskinetic-cerebral-palsy-effects-on-function-and-activity
#5
Meta N Eek, Kristina Olsson, Karin Lindh, Berit Askljung, Magnus Påhlman, Olle Corneliusson, Kate Himmelmann
AIM: To investigate the effect of intrathecal baclofen (ITB) on function and activity in dyskinetic cerebral palsy (CP). METHOD: A retrospective cohort study of records from 25 children (15 males, 10 females; mean age 10y 11mo, SD 4y 9mo). Five were classified in Gross Motor Function Classification level IV and 20 in level V. Parents were interviewed about activities in daily life, sitting, communication, pain, sleep, and gross and fine motor function. Differences before and 1 year after ITB were graded as positive, no change, or negative...
November 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29147684/c-207c-g-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia
#6
Ali S Shalash, Thomas W Rösler, Stefanie H Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U Höglinger
Objective: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional consequences of detected genetic variants, urinary sepiapterin concentrations were determined by high-performance liquid chromatography...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29145188/brueghel-syndrome-or-meige-syndrome-two-sides-of-a-same-disease
#7
M Béreau, L Tatu
Different eponyms such as "Wood syndrome," Meige syndrome, "Brueghel syndrome," "Blepharospasm plus syndrome" have been used to describe segmental craniocervical dystonias. These facial and/or oromandibular movement disorders are characterized by muscle contractions and spasms involving eyes, facial region, and sometimes pharynx, jaw, floor of the mouth, and tongue. The pathophysiology of craniocervical dystonia is poorly understood, but abnormal plasticity and impaired inhibition are suspected. Injection of botulinum toxin appears to be the best therapeutic option for treating segmental craniocervical dystonia...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29144565/rethinking-status-dystonicus
#8
REVIEW
Marta Ruiz-Lopez, Alfonso Fasano
Status dystonicus is a movement disorder emergency that has been a source of controversy in terms of terminology, phenomenology, and management since it was first described in 1982. Here we argue that the current use of the term status dystonicus falls well short of the precision needed for either clinical or academic use. We performed a critical review on this topic, describing possible pathophysiological mechanisms and areas of uncertainties. This review also addresses the problems derived by the extreme clinical heterogeneity of this condition, as the lack of an objective criterion useful for the definition, or the fact that status dystonicus may present not only in the context of a known dystonic syndrome...
November 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29143206/characteristics-of-two-distinct-clinical-phenotypes-of-functional-psychogenic-dystonia-follow-up-study
#9
Igor N Petrović, Aleksandra Tomić, Marija Mitković Vončina, Danilo Pešić, Vladimir S Kostić
BACKGROUND: The fixed dystonia phenotype was originally established as a prototype of functional dystonia. Nevertheless, in recent reports different functional dystonia phenotypes have been recognized with dystonic movement comprising phasic instead of tonic contraction. OBJECTIVES: To examine clinical characteristic in all patients with dystonia who fulfilled the criteria for functional movement disorders irrespective of phenotype in an attempt to determine parameters of clinical presentations that might impact the disease progression pattern and outcome...
November 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29137852/dysarthria-in-pallidal-deep-brain-stimulation-in-dystonia-depends-on-the-posterior-location-of-active-electrode-contacts-a-pilot-study
#10
K A M Pauls, P J Bröckelmann, S Hammesfahr, J Becker, A Hellerbach, V Visser-Vandewalle, T A Dembek, I G Meister, L Timmermann
BACKGROUND: Pallidal Deep Brain Stimulation (GPi-DBS) is an efficient treatment for primary dystonia. We investigated stimulation-induced dysarthria, which is the most frequent side-effect of GPi-DBS. METHODS: Speech was recorded while reading a standard text, and performing rapid syllable repetitions ON and OFF DBS in ten dystonia patients (6 men; 3 cervical, 4 segmental, 3 generalized, unselected for DBS-related speech impairments). Speech and articulation rate, pauses, and syllable repetition rates were extracted via acoustic analysis...
November 7, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29135566/management-of-hypertonia-in-cerebral-palsy
#11
Nickolas J Nahm, H Kerr Graham, Mark E Gormley, Andrew G Georgiadis
PURPOSE OF REVIEW: The review provides an update on the treatment of hypertonia in cerebral palsy, including physical management, pharmacotherapy, neurosurgical, and orthopedic procedures. RECENT FINDINGS: Serial casting potentiates the effect of Botulinum neurotoxin A injections for spasticity. Deep brain stimulation, intraventricular baclofen, and ventral and dorsal rhizotomy are emerging tools for the treatment of dystonia and/or mixed tone. The long-term results of selective dorsal rhizotomy and the timing of orthopedic surgery represent recent advances in the surgical management of hypertonia...
November 11, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29133709/experience-of-pallidal-deep-brain-stimulation-in-dystonia-at-a-tertiary-care-centre-in-india-an-initial-experience
#12
M Manjunath, Ravi Yadav, Srinivas Dwarakanath, Ketan Jhunjhunwala, A Jafar, Pratibha Surathi, Abhishek Lenka, Albert Stezin, S Sampath, Pramod K Pal
INTRODUCTION: Dystonia is one of the most prevalent forms of movement disorders and is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonia causes significant morbidity with an adverse impact on the quality of life. When dystonia is medically refractory, causing severe pain and impairment in activities of daily living, deep brain stimulation (DBS) of the globus pallidus interna (GPi) is a potential option to reduce disability...
November 2017: Neurology India
https://www.readbyqxmd.com/read/29133691/deep-brain-stimulation-in-dystonia-the-current-status
#13
Rupam Borgohain, Rukmini Kandadai Mridula, Swetha Tandra
No abstract text is available yet for this article.
November 2017: Neurology India
https://www.readbyqxmd.com/read/29133690/pallidal-deep-brain-stimulation-in-dystonia
#14
Manmohan Singh, Kanwaljit Garg
No abstract text is available yet for this article.
November 2017: Neurology India
https://www.readbyqxmd.com/read/29133689/neurological-perspective-of-globus-pallidus-interna-deep-brain-stimulation-in-dystonia
#15
Vinay Goyal
No abstract text is available yet for this article.
November 2017: Neurology India
https://www.readbyqxmd.com/read/29130551/a-localized-pallidal-physiomarker-in-cervical-dystonia
#16
Wolf-Julian Neumann, Andreas Horn, Siobhan Ewert, Julius Huebl, Christof Brücke, Colleen Slentz, Gerd-Helge Schneider, Andrea A Kühn
OBJECTIVE: Deep brain stimulation (DBS) allows for direct recordings of neuronal activity from the human basal ganglia. In Parkinson's disease, a disease-specific physiomarker was identified that is now used to investigate adaptive closed-loop stimulation in first studies. In dystonia such a physiomarker is missing. METHODS: Pallidal oscillations were recorded from 153 contact pairs in 27 patients. We investigated whether power amplitudes in theta and beta bands correlate with dystonic symptom severity across patients...
November 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29128164/grey-matter-volume-loss-is-associated-with-specific-clinical-motor-signs-in-huntington-s-disease
#17
Emma M Coppen, Milou Jacobs, Annette A van den Berg-Huysmans, Jeroen van der Grond, Raymund A C Roos
BACKGROUND: Motor disturbances are clinical hallmarks of Huntington's disease (HD) and involve chorea, dystonia, hypokinesia and visuomotor dysfunction. Investigating the association between specific motor signs and different regional volumes is important to understand the heterogeneity of HD. OBJECTIVE: To investigate the motor phenotype of HD and associations with subcortical and cortical grey matter volume loss. METHODS: Structural T1-weighted MRI scans of 79 HD patients and 30 healthy controls were used to calculate volumes of seven subcortical structures including the nucleus accumbens, hippocampus, thalamus, caudate nucleus, putamen, pallidum and amygdala...
November 2, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29127012/dystonia-4-dyt4-associated-tubb4a-mutants-exhibit-disorganized-microtubule-networks-and-inhibit-neuronal-process-growth
#18
Natsumi Watanabe, Misa Itakaoka, Yoich Seki, Takako Morimoto, Keiichi Homma, Yuki Miyamoto, Junji Yamauchi
Dystonia-1 (DYT1) is an autosomal dominant early-onset torsion form of dystonia, a neurological disease affecting movement. DYT1 is the prototypic hereditary dystonia and is caused by the mutation of the tor1a gene. The gene product has chaperone functions important for the control of protein folding and stability. Dystonia-4 (DYT4) is another autosomal dominant dystonia that is characterized by onset in the second to third decade of progressive laryngeal dysphonia. DYT4 is associated with the mutation of the tubb4a gene, although it remains to be understood how disease-associated mutation affects biochemical as well as cell biological properties of the gene product as the microtubule component (a tubulin beta subunit)...
November 7, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29126810/sensory-trick-splint-as-a-multimodal-therapy-for-oromandibular-dystonia
#19
Kazuya Yoshida
PURPOSE: Many patients with oromandibular dystonia, which is characterized by involuntary masticatory, lower facial, and/or tongue muscle contractions, experience relief of symptoms through sensory tricks such as eating chewing gum or candy. The aim of this study was to identify the factors influencing the effects of splints in patients with oromandibular dystonia. METHODS: Occlusal splints were inserted in 128 patients (89 women, 39 men) with oromandibular dystonia (102 with jaw closing dystonia, 20 with lingual dystonia, 5 with jaw deviation dystonia, 4 with jaw opening dystonia, 3 with lip dystonia, and 2 with jaw protrusion dystonia)...
November 7, 2017: Journal of Prosthodontic Research
https://www.readbyqxmd.com/read/29124784/dysfunction-in-emotion-processing-underlies-functional-psychogenic-dystonia
#20
Alberto J Espay, Thomas Maloney, Jennifer Vannest, Matthew M Norris, James C Eliassen, Erin Neefus, Jane B Allendorfer, Robert Chen, Jerzy P Szaflarski
OBJECTIVE: We sought to determine whether abnormalities in emotion processing underlie functional (psychogenic) dystonia, one of the most common functional movement disorders. METHODS: Motor and emotion circuits were examined in 12 participants with functional dystonia, 12 with primary organic dystonia, and 25 healthy controls using functional magnetic resonance imaging at 4T and a finger-tapping task (motor task), a basic emotion-recognition task (emotional faces task), and an intense-emotion stimuli task...
November 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
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