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Cervical dystonia

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https://www.readbyqxmd.com/read/28054172/the-occurrence-of-lateral-shift-in-cervical-dystonia
#1
Marcello Esposito, Silvio Peluso, Raffaele Dubbioso, Roberto Allocca, Filippo Iorillo, Antonietta Coppola, Lucio Santoro
Aim of this study is to identify factors contributing the occurrence of neck lateral shift (LS) in patients with cervical dystonia (CD). A retrospective analysis focused on the treatment with botulinum toxin (BTX) was conducted on 38 consecutive idiopathic CD patients comparing subjects with and without LS. The main result was the evidence of a significantly higher BTX inter-side dose difference in patients with LS suggesting that this uncommon phenotype may be an artifact of chronic therapy with BTX.
January 4, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28017556/bilateral-globus-pallidus-internus-deep-brain-stimulation-for-dyskinetic-cerebral-palsy-supports-success-of-cochlear-implantation-in-a-5-year-old-ex-24%C3%A2-week-preterm-twin-with-absent-cerebellar-hemispheres
#2
Jean-Pierre Lin, Margaret Kaminska, Sarah Perides, Hortensia Gimeno, Lesley Baker, Daniel E Lumsden, Anzell Britz, Sandra Driver, Alec Fitzgerald-O'Connor, Richard Selway
BACKGROUND: Early onset dystonia (dyskinesia) and deafness in childhood pose significant challenges for children and carers and are the cause of multiple disability. It is particularly tragic when the child cannot make use of early cochlear implantation (CI) technology to relieve deafness and improve language and communication, because severe cervical and truncal dystonia brushes off the magnetic amplifier behind the ears. Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) neuromodulation can reduce dyskinesia, thus supporting CI neuromodulation success...
December 10, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28017205/meige-s-syndrome-history-epidemiology-clinical-features-pathogenesis-and-treatment
#3
REVIEW
Sanjay Pandey, Soumya Sharma
'Meige's syndrome' is a type of cranial dystonia characterized by blepharospasm and oromandibular dystonia and can be associated with complex movement of lower facial muscles, mouth, jaw, tongue, pharyngeal and cervical muscles. Frequently, blepharospasm is the earliest clinical manifestation, which spreads over a period of time to involve other cranial and extra-cranial muscles. Common characteristics of this syndrome are well known, but their variety is wide. Different eponyms such as "Breughel syndrome", "Wood syndrome", "Blepharospasm plus", "Segmental cranial dystonia" and "Segmental cranio-cervical dystonia" have been used to describe this entity with numerous anatomical variations...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28003807/corrigendum-unmet-needs-in-the-management-of-cervical-dystonia
#4
Maria Fiorella Contarino, Marenka Smit, Joost van den Dool, Jens Volkmann, Marina A J Tijssen
[This corrects the article on p. 165 in vol. 7, PMID: 27733842.].
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27992417/mutations-in-the-histone-methyltransferase-gene-kmt2b-cause-complex-early-onset-dystonia
#5
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings...
December 19, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27970894/cost-utility-analysis-of-two-type-a-botulinum-toxins-in-the-management-of-blepharospasm-and-cervical-dystonia-in-spain
#6
Á Sanz-Granda
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27970891/cost-effectiveness-of-incobotulinumtoxin-a-with-flexible-treatment-intervals-compared-to-fixed-treatment-intervals-in-the-management-of-blepharospasm-and-cervical-dystonia
#7
D Tilden, C Guarnieri
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27939583/functional-genomic-analyses-of-mendelian-and-sporadic-disease-identify-impaired-eif2%C3%AE-signaling-as-a-generalizable-mechanism-for-dystonia
#8
Joseph E Rittiner, Zachary F Caffall, Ricardo Hernández-Martinez, Sydney M Sanderson, James L Pearson, Kaylin K Tsukayama, Anna Y Liu, Changrui Xiao, Samantha Tracy, Miranda K Shipman, Patrick Hickey, Julia Johnson, Burton Scott, Mark Stacy, Rachel Saunders-Pullman, Susan Bressman, Kristina Simonyan, Nutan Sharma, Laurie J Ozelius, Elizabeth T Cirulli, Nicole Calakos
Dystonia is a brain disorder causing involuntary, often painful movements. Apart from a role for dopamine deficiency in some forms, the cellular mechanisms underlying most dystonias are currently unknown. Here, we discover a role for deficient eIF2α signaling in DYT1 dystonia, a rare inherited generalized form, through a genome-wide RNAi screen. Subsequent experiments including patient-derived cells and a mouse model support both a pathogenic role and therapeutic potential for eIF2α pathway perturbations...
December 21, 2016: Neuron
https://www.readbyqxmd.com/read/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#9
Patrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, Kimberly G Harris, Margot A Cousin, Nicole J Boczek, Owen A Ross, Eric W Klee, Paul W Brazis, Jay A Van Gerpen, Paldeep S Atwal
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty...
December 5, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27913194/genetic-screening-of-thap1-in-primary-dystonia-patients-of-india
#10
Subhajit Giri, Tufan Naiya, Zaffar Equbal, Charulata Savant Sankhla, Shyamal Kumar Das, Kunal Ray, Jharna Ray
BACKGROUND: Primary Dystonia is a common movement disorder manifested by dystonic symptoms only. DYT6, a major genetic factor, plays a significant role in primary pure dystonia pathogenesis. In this study we analyzed THAP1 (DYT 6) gene in primary pure dystonia patients, which has been widely studied in other populations but not in Indians. METHODS: The study cohort contained 227 index primary pure dystonia patients with the involvement of cervical region and 254 neurologically control individuals collected from East Indian population...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27910093/headache-attributed-to-craniocervical-dystonia-a-little-known-headache
#11
Marcos Eugenio Ramalho Bezerra, Pedro Augusto Sampaio Rocha-Filho
BACKGROUND: 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. METHOD: This was a narrative review. RESULTS: Craniocervical dystonia was associated with muscle pain in 67-89% of the cases...
December 2, 2016: Headache
https://www.readbyqxmd.com/read/27895619/a-functional-magnetic-resonance-imaging-study-of-head-movements-in-cervical-dystonia
#12
Cecília N Prudente, Randall Stilla, Shivangi Singh, Cathrin Buetefisch, Marian Evatt, Stewart A Factor, Alan Freeman, Xiaoping Philip Hu, Ellen J Hess, K Sathian, H A Jinnah
Cervical dystonia (CD) is a neurological disorder characterized by abnormal movements and postures of the head. The brain regions responsible for these abnormal movements are not well understood, because most imaging techniques for assessing regional brain activity cannot be used when the head is moving. Recently, we mapped brain activation in healthy individuals using functional magnetic resonance imaging during isometric head rotation, when muscle contractions occur without actual head movements. In the current study, we used the same methods to explore the neural substrates for head movements in subjects with CD who had predominantly rotational abnormalities (torticollis)...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27886079/cerebellar-intermittent-theta-burst-stimulation-and-motor-control-training-in-individuals-with-cervical-dystonia
#13
Lynley V Bradnam, Michelle N McDonnell, Michael C Ridding
BACKGROUND: There is emerging evidence that cervical dystonia is a neural network disorder with the cerebellum as a key node. The cerebellum may provide a target for neuromodulation as a therapeutic intervention in cervical dystonia. OBJECTIVE: This study aimed to assess effects of intermittent theta-burst stimulation of the cerebellum on dystonia symptoms, quality of life, hand motor dexterity and cortical neurophysiology using transcranial magnetic stimulation...
November 23, 2016: Brain Sciences
https://www.readbyqxmd.com/read/27831867/real-time-ultrasound-segmentation-analysis-and-visualisation-of-deep-cervical-muscle-structure
#14
Ryan Cunningham, Peter Harding, Ian Loram
Despite widespread availability of ultrasound and a need for personalised muscle diagnosis (neck/back pain-injury, work related disorder, myopathies, neuropathies), robust, online segmentation of muscles within complex groups remains unsolved by existing methods. For example, Cervical Dystonia (CD) is a prevalent neurological condition causing painful spasticity in one or multiple muscles in the cervical muscle system. Clinicians currently have no method for targeting/monitoring treatment of deep muscles. Automated methods of muscle segmentation would enable clinicians to study, target, and monitor the deep cervical muscles via ultrasound...
November 1, 2016: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/27830106/occurrence-of-dysphagia-following-botulinum-toxin-injection-in-parkinsonism-related-cervical-dystonia-a-retrospective-study
#15
Addie Patterson, Leonardo Almeida, Christopher W Hess, Daniel Martinez-Ramirez, Michael S Okun, Ramon L Rodriguez, Valerie Rundle-Gonzalez, Aparna Wagle Shukla, Irene A Malaty
BACKGROUND: The aim was to compare the occurrence of post-injection dysphagia in parkinsonism-related cervical dystonia (PRCD) versus cervical dystonia (CD) of other etiologies (non-PRCD). A secondary objective was to explore potential clinical differences between PRCD and non-PRCD and their respective responses to botulinum toxin (BoNT). METHODS: A cross-sectional chart review was carried out of patients treated for CD with Onabotulinumtoxin A at the University of Florida...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27816992/impaired-heart-rate-variability-in-cervical-dystonia-is-associated-to-depression
#16
F Hentschel, D Dressler, M Abele, S Paus
Causes of cardiovascular autonomic dysfunction in cervical dystonia (CD) are poorly understood. Studies examining effects of botulinum neurotoxin (BoNT) therapy on heart rate variability (HRV) yielded contradictory results. There is compelling evidence that depression shifts autonomic balance towards sympathetic predominance. As depression is the most frequent non-motor symptom in CD, we sought to determine if it is associated to dysfunction of cardiovascular autonomic regulation. Standardized interviews, clinical examinations, self-rating forms, autonomic symptom questionnaire, and automated autonomic testing in outpatients with idiopathic CD were used...
November 5, 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27815976/deficient-median-nerve-prepulse-inhibition-of-the-blink-reflex-in-cervical-dystonia
#17
Oya Öztürk, Ayşegül Gündüz, Meral E Kızıltan
OBJECTIVE: We analyzed prepulse inhibition (PPI) of the blink reflex (BR) in patients with cervical dystonia (CD) to examine the sensory modulation of the motor system. METHODS: This study enrolled 22 consecutive patients with idiopathic CD and 25 age- and gender-matched healthy subjects. Prepulse inhibition of the BR was recorded after stimulating the median nerve at the wrist using an electrical stimulus twice at a perception threshold 100ms before a test stimulus to the supraorbital nerve...
December 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27806874/submolecular-recognition-regions-of-the-hn-domain-of-the-heavy-chain-of-botulinum-neurotoxin-type-a-by-t-cells-from-toxin-treated-cervical-dystonia-patients
#18
Minako Oshima, Philip Deitiker, Joseph Jankovic, M Zouhair Atassi
We have recently reported the submolecular T-cell recognition profile of the C-terminal half (HC, residues 855-1296) of the heavy (H) chain of botulinum neurotoxin type A (BoNT/A) with peripheral blood lymphocytes (PBL) from 25 BoNT-treated cervical dystonia (CD) patients. In the current study, we describe the mapping of the T-cell responses of the patients to the N-terminal half (HN, residues 449-859) of the heavy chain by using 29 synthetic overlapping peptides encompassing the entire HN domain of BoNT/A...
November 15, 2016: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/27782297/botulinum-toxin-type-a-versus-botulinum-toxin-type-b-for-cervical-dystonia
#19
REVIEW
Gonçalo S Duarte, Mafalda Castelão, Filipe B Rodrigues, Raquel E Marques, Joaquim Ferreira, Cristina Sampaio, Austen P Moore, João Costa
BACKGROUND: 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...
October 26, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27774495/impact-of-cervical-dystonia-on-work-productivity-an-analysis-from-a-patient-registry
#20
Eric S Molho, Mark Stacy, Patrick Gillard, David Charles, Charles H Adler, Joseph Jankovic, Marc Schwartz, Mitchell F Brin
BACKGROUND: Cervical dystonia is thought to result in high disease burden, but limited information exists on its impact on employment and work productivity. We utilized data from the Cervical Dystonia Patient Registry for the Observation of OnabotulinumtoxinA Efficacy (ClinicalTrials.gov identifier: NCT00836017) to assess the impact of cervical dystonia on employment and work productivity and examine the effect of onabotulinumtoxinA treatments on work productivity. METHODS: Subjects completed a questionnaire on employment status and work productivity at baseline and final visit...
March 2016: Movement Disorders Clinical Practice
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