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https://www.readbyqxmd.com/read/28215037/the-italian-dystonia-registry-rationale-design-and-preliminary-findings
#1
Giovanni Defazio, M Esposito, G Abbruzzese, C L Scaglione, G Fabbrini, G Ferrazzano, S Peluso, R Pellicciari, A F Gigante, G Cossu, R Arca, L Avanzino, F Bono, M R Mazza, L Bertolasi, R Bacchin, R Eleopra, C Lettieri, F Morgante, M C Altavista, L Polidori, R Liguori, S Misceo, G Squintani, M Tinazzi, R Ceravolo, E Unti, L Magistrelli, M Coletti Moja, N Modugno, M Petracca, N Tambasco, M S Cotelli, M Aguggia, A Pisani, M Romano, M Zibetti, A R Bentivoglio, A Albanese, P Girlanda, A Berardelli
The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy...
February 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28213071/pla2g6-accumulates-in-lewy-bodies-in-park14-and-idiopathic-parkinson-s-disease
#2
Yasuo Miki, Kunikazu Tanji, Fumiaki Mori, Akiyoshi Kakita, Hitoshi Takahashi, Koichi Wakabayashi
The histopathological hallmark of Parkinson's disease (PD) and dementia with Lewy bodies (DLB) is the occurrence of insoluble fibrillary aggregates known as Lewy bodies, in which phosphorylated α-synuclein (α-syn) is a major component. To date, familial PD-linked gene products, including α-syn, parkin, PINK-1, DJ-1 and LRRK2, are known to be involved in Lewy body formation. Phospholipase A2, group VI (PLA2G6) is the causative gene for PARK14-linked parkinsonism (PARK14), a familial form of juvenile-onset dystonia parkinsonism...
February 14, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28199993/intraoperative-thresholds-for-capsular-stimulation-are-reliable-for-chronic-pallidal-deep-brain-stimulation-in-dystonia
#3
René Reese, Martin M Reich, Daniela Falk, Günther Deuschl, H Maximilian Mehdorn, Jens Volkmann
BACKGROUND: The threshold current for inducing muscle contractions by stimulation of pyramidal tract fibres adjacent to the globus pallidus internus (GPi) is, besides microelectrode recordings for the determination of nuclear boundaries, currently the only neurophysiological marker for intraoperative refinement of the anatomically planned target point for pallidal deep brain stimulation (GPi-DBS) in dystonia. OBJECTIVES: To determine the relationship between intraoperative thresholds for muscle contractions under general anaesthesia and postoperative thresholds in GPi-DBS...
February 16, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28198698/a-role-for-cerebellum-in-the-hereditary-dystonia-dyt1
#4
Rachel Fremont, Ambika Tewari, Chantal Angueyra, Kamran Khodakhah
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 development 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...
February 15, 2017: ELife
https://www.readbyqxmd.com/read/28195407/a-pilot-trial-of-square-biphasic-pulse-deep-brain-stimulation-for-dystonia-the-bip-dystonia-study
#5
Leonardo Almeida, Daniel Martinez-Ramirez, Bilal Ahmed, Wissam Deeb, Sol De Jesus, Jared Skinner, Matthew J Terza, Umer Akbar, Robert S Raike, Chris J Hass, Michael S Okun
BACKGROUND: Dystonia often has inconsistent benefits and requires more energy-demanding DBS settings. Studies suggest that squared biphasic pulses could provide significant clinical benefit; however, dystonia patients have not been explored. OBJECTIVES: To assess safety and tolerability of square biphasic DBS in dystonia patients. METHODS: This study included primary generalized or cervical dystonia patients with bilateral GPi DBS. Square biphasic pulses were implemented and patients were assessed at baseline, immediately postwashout, post-30-minute washout, 1 hour post- and 2 hours postinitiation of investigational settings...
February 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28194131/needs-and-requirements-of-modern-biobanks-on-the-example-of-dystonia-syndromes
#6
Ebba Lohmann, Thomas Gasser, Kathrin Grundmann
Dystonia belongs to a group of rare diseases (RDs) characterized by etiologic heterogeneity, affection often in childhood, severe and variable clinical manifestation. The burden of this disease is aggravated by the lack of effective and specific treatment. In the field of dystonia as in other RDs the number of available biospecimens is, in general, limited. Here, we report a new approach to collect clinical and genetic data in biospecimens maintained collaboratively by researchers and their associated institutions in a decentralized system...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28192488/does-dystonic-muscle-activity-affect-sense-of-effort-in-cervical-dystonia
#7
Loïc Carment, Marc A Maier, Sophie Sangla, Vincent Guiraud, Serge Mesure, Marie Vidailhet, Påvel G Lindberg, Jean-Pierre Bleton
BACKGROUND: Focal 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. METHODS: Neck 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-matching and force-maintaining tasks at 5% and 20% of maximum voluntary contraction (MVC)...
2017: PloS One
https://www.readbyqxmd.com/read/28188465/dystonia-opportunities-to-gain-insights-into-underlying-pathophysiological-mechanisms
#8
K J Peall, N P Robertson
No abstract text is available yet for this article.
February 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28187819/how-might-a-genetic-diagnosis-benefit-children-with-dystonia
#9
EDITORIAL
Daniel E Lumsden
No abstract text is available yet for this article.
March 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28186668/a-post-hoc-study-on-gene-panel-analysis-for-the-diagnosis-of-dystonia
#10
Martje E van Egmond, Coen H A Lugtenberg, Oebele F Brouwer, Maria Fiorella Contarino, Victor S C Fung, M Rebecca Heiner-Fokkema, Jacobus J van Hilten, Annemarie H van der Hout, Kathryn J Peall, Richard J Sinke, Emmanuel Roze, Corien C Verschuuren-Bemelmans, Michel A Willemsen, Nicole I Wolf, Marina A Tijssen, Tom J de Koning
BACKGROUND: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis. METHODS: In this post hoc study, we describe gene panel analysis results of 61 dystonia patients (mean age, 31 years; 72% young onset) in our tertiary referral center...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28186664/disruption-in-cerebellar-and-basal-ganglia-networks-during-a-visuospatial-task-in-cervical-dystonia
#11
Pavel Filip, Cécile Gallea, Stéphane Lehéricy, Eric Bertasi, Traian Popa, Radek Mareček, Ovidiu V Lungu, Tomáš Kašpárek, Jiří Vaníček, Martin Bareš
BACKGROUND: Although dystonia is traditionally conceptualized as a basal ganglia disorder, increasing interest has been directed at a different neural network node, the cerebellum, which may play a significant role in the pathophysiology of dystonia. Abnormal sensorimotor processing and disturbed motor schemes, possibly attributable to cerebellar changes, remain unclear. METHODS: We sought to characterize the extent of cerebellar dysfunction within the motor network using functional MRI activation analysis, connectivity analysis, and voxel-based morphometry in cervical dystonia patients (n = 25, 15 women, mean age 45...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28186662/blepharospasm-40-years-later
#12
REVIEW
Giovanni Defazio, Mark Hallett, Hyder A Jinnah, Antonella Conte, Alfredo Berardelli
Forty years ago, C.D. Marsden proposed that blepharospasm should be considered a form of adult-onset focal dystonia. In the present paper, we provide a comprehensive overview of the findings regarding blepharospasm reported in the past 40 years. Although prolonged spasms of the orbicularis oculi muscles remain the clinical hallmark of blepharospasm, patients with blepharospasm may be characterized by various types of involuntary activation of periocular muscles. In addition to motor features, blepharospasm patients may also have nonmotor manifestations, including psychiatric, mild cognitive, and sensory disturbances...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28186656/phenotype-and-genotype-specific-structural-alterations-in-spasmodic-dysphonia
#13
Serena Bianchi, Giovanni Battistella, Hailey Huddleston, Rebecca Scharf, Lazar Fleysher, Anna F Rumbach, Steven J Frucht, Andrew Blitzer, Laurie J Ozelius, Kristina Simonyan
BACKGROUND: Spasmodic dysphonia is a focal dystonia characterized by involuntary spasms in the laryngeal muscles that occur selectively during speaking. Although hereditary trends have been reported in up to 16% of patients, the causative etiology of spasmodic dysphonia is unclear, and the influences of various phenotypes and genotypes on disorder pathophysiology are poorly understood. In this study, we examined structural alterations in cortical gray matter and white matter integrity in relationship to different phenotypes and putative genotypes of spasmodic dysphonia to elucidate the structural component of its complex pathophysiology...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28186378/efficacy-of-pallidal-stimulation-in-isolated-dystonia-a-systematic-review-and-meta-analysis
#14
REVIEW
E Moro, C LeReun, J K Krauss, A Albanese, J-P Lin, S Walleser Autiero, T C Brionne, M Vidailhet
The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia. Eligible studies were identified after a systematic literature review of the effects of bilateral GPi-DBS in isolated dystonia. Absolute and percentage changes from baseline in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor and disability scores were pooled, and associations between treatment effect and patient characteristics were explored using meta-regression...
February 10, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28181921/feed-induced-dystonias-in-children-with-severe-central-nervous-system-disorders
#15
Santosh Mordekar, Manjula Velayudhan, David I Campbell
Dystonias can arise from any painful stimuli in neurologically disabled children. Classically, feed induced dystonias from mediastinal pain due to severe gastroesophageal reflux disease are described as Sandifer's spasm. We report a case series of 12 severely neurologically impaired children with enteral feed induced dystonias. Intestinal dysmotility was demonstrated in several. Improvements are seen with jejunal feeds or gut rest with Total Parenteral Nutrition. Use of parenteral nutrition in children with severe neurodisability requires thorough discussion with patient groups and commissioners to give clinicians guidelines to standardise care...
February 8, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28169979/acute-focal-dystonia-after-a-single-dose-of-oral-cetirizine-in-a-9-year-old-boy
#16
Indar Kumar Sharawat, Lesa Dawman
Common cold is an acute illness affecting pediatric population in particular. The use of antihistamines is a common practice, with cetirizine being a frequently used drug with a good safety profile. However, adverse events due to the use of antihistamines have been rarely reported, such as drug-induced dystonia with the use of cetirizine. In our present case, dystonia due to the intake of cetirizine was observed, which the patient responded well to the use of benzodiazapines, namely, clonazepam. We report this case to highlight the occurrence of this adverse event with the use of cetirizine...
February 4, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28168595/juvenile-huntington-s-disease-diagnostic-and-treatment-considerations-for-the-psychiatrist
#17
REVIEW
Joanna Quigley
Juvenile Huntington's disease (JHD) is a neurodegenerative disease with onset prior to the age of 21. While it accounts for a relatively small proportion of Huntington's disease (HD) diagnoses, its impact is significant on the quality of life for those affected. Clinicians may be unaware that HD can present in childhood and adolescence, delaying diagnosis. HD develops due to an expanded CAG repeat in the huntington gene. Rigidity, dystonia, and seizures are more common in JHD. Cognitive changes such as executive function impairments and decline in school performance are common...
February 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28168537/hyperkinetic-movement-disorder-emergencies
#18
REVIEW
Giovanni Cossu, Carlo Colosimo
A movement disorder emergency has been defined by Fahn and Frucht as "any neurological disorder evolving acutely or subacutely, in which the clinical presentation is dominated by a primary movement disorder, and in which failure to accurately diagnose and manage the patient may result in significant morbidity or even mortality." In this review, we discuss the most common situations in which hyperkinetic movement disorders, including chorea, ballism, dystonia, myoclonus, tics, as well as psychogenic disorders, can present as emergencies...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28168129/a-quandary-of-cuprum-wilson-s-disease-disguising-as-progressive-myoclonic-epilepsy
#19
Monika Sachan, Suman Kushwaha, Shah Faisal Ahmad Tarfarosh, Vineet Banga, Ashutosh Gupta
Although metals are indispensable for the production of articles in our daily usage, the deposition of these metals in human tissue is known to cause disease. However, it is not always the ingestion of abnormal amounts of lead, iron, or copper that makes our tissues morbid; our hereditary and metabolic issues are to be blamed as well. Wilson's disease is one such hereditary disease that creates chaos in tissues, usually the brain and liver, via deposition of abnormal amounts of copper in them. While Wilson's disease almost seems to bring a picture of a young patient with dystonia and other extrapyramidal symptoms in our imagination, seizures are very uncommon in this disorder...
January 1, 2017: Curēus
https://www.readbyqxmd.com/read/28166704/anesthetic-considerations-in-scoliosis-patient-with-dopa-responsive-dystonia-or-segawa-s-syndrome
#20
M Shahnaz Hasan, Kok Weng Leong, Chris Yin Wei Chan, Mun Keong Kwan
Segawa's syndrome or dopa-responsive dystonia is a rare hereditary disorder characterized by progressive dystonia of childhood onset, diurnal fluctuation of symptoms and complete or near complete alleviation of symptoms with administration of low-dose oral levodopa. From our literature search in PubMed, we found only three related publications: two on anesthesia for cesarean section and one on anesthesia for electroconvulsive therapy. We report our experience in providing anesthesia for corrective scoliosis surgery in two biological sisters with Segawa's syndrome...
January 2017: Journal of Orthopaedic Surgery
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