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https://www.readbyqxmd.com/read/29904367/resting-state-pallidal-cortical-oscillatory-couplings-in-patients-with-predominant-phasic-and-tonic-dystonia
#1
Fusako Yokochi, Kenji Kato, Hirokazu Iwamuro, Tsutomu Kamiyama, Katsuo Kimura, Akihiro Yugeta, Ryoichi Okiyama, Makoto Taniguchi, Satoko Kumada, Junichi Ushiba
Pallidal deep brain stimulation (DBS) improves the symptoms of dystonia. The improvement processes of dystonic movements (phasic symptoms) and tonic symptoms differ. Phasic symptoms improve rapidly after starting DBS treatment, but tonic symptoms improve gradually. This difference implies distinct neuronal mechanisms for phasic and tonic symptoms in the underlying cortico-basal ganglia neuronal network. Phasic symptoms are related to the pallido-thalamo-cortical pathway. The pathway related to tonic symptoms has been assumed to be different from that for phasic symptoms...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29903584/a-detailed-clinical-study-of-pain-in-1957-participants-with-early-moderate-parkinson-s-disease
#2
Monty A Silverdale, Christopher Kobylecki, Lewis Kass-Iliyya, Pablo Martinez-Martin, Michael Lawton, Sarah Cotterill, K Ray Chaudhuri, Huw Morris, Fahd Baig, Nigel Williams, Leon Hubbard, Michele T Hu, Donald G Grosset
INTRODUCTION: The causes of pain in early/moderate Parkinson's disease (PD) are not well understood. Although peripheral factors such as rigidity, reduced joint movements and poor posture may contribute towards the development of pain, central mechanisms including altered nociceptive processing may also be involved. METHODS: We performed a large clinical study to investigate potential factors contributing towards pain in early/moderate PD. We recruited 1957 PD participants who had detailed assessments of pain, motor and non-motor symptoms...
June 6, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29899725/long-term-effect-of-gpi-dbs-in-a-patient-with-generalized-dystonia-due-to-glut1-deficiency-syndrome
#3
Idil Hanci, Christoph Kamm, Marlieke Scholten, Lorenzo P Roncoroni, Yvonne Weber, Rejko Krüger, Christian Plewnia, Alireza Gharabaghi, Daniel Weiss
Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29891064/the-cerebellum-and-dystonia
#4
Matteo Bologna, Alfredo Berardelli
Dystonia is a heterogeneous disorder characterized by involuntary muscle contractions, twisting movements, and abnormal postures in various body regions. It is widely accepted that the basal ganglia are involved in the pathogenesis of dystonia. A growing body of evidence, however, is challenging the traditional view and suggest that the cerebellum may also play a role in dystonia. Studies on animals indicate that experimental manipulations of the cerebellum lead to dystonic-like movements. Several clinical observations, including those from secondary dystonia cases as well as neurophysiologic and neuroimaging studies in human patients, provide further evidence in humans of a possible relationship between cerebellar abnormalities and dystonia...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29889820/the-yips-methods-to-identify-golfers-with-a-dystonic-etiology-golfer-s-cramp
#5
Charles H Adler, M'hamed Temkit, Debra Crews, Troy McDaniel, Jennifer Tucker, Joseph G Hentz, Christian Marquardt, Dale Abraham, John N Caviness
PURPOSE: To determine whether quantitative methods could separate golfers with a possible dystonic cause of the "yips" from those that appear to be non-dystonic. METHODS: 27 golfers completed 10 two-handed and 10 right hand only putts. Surface EMG assessed forearm muscle co-contraction and motion detectors monitored wrist and putter movements. Based on videotape review, golfers were grouped into those with yips of dystonic etiology, those with the yips non-dystonic, and those with no yips...
June 8, 2018: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29880315/subthalamic-deep-brain-stimulation-in-patients-with-primary-dystonia-a-ten-year-follow-up-study
#6
Zhengdao Deng, Yixin Pan, Chencheng Zhang, Jing Zhang, Xian Qiu, Shikun Zhan, Dianyou Li, Bomin Sun
BACKGROUND: Subthalamic deep brain stimulation (STN-DBS) is a promising intervention for primary dystonia; however, evidence regarding its efficacy is lacking. Thus, a long-term follow-up is indispensable. OBJECTIVE: This trial was designed to examine the efficacy and consistency of subthalamic deep brain stimulation in patients with primary dystonia over the long term. METHOD: This was a retrospective study involving 14 patients with primary dystonia who underwent STN-DBS and consented to a follow-up of at least 10 years...
May 31, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29861155/early-onset-encephalopathy-with-paroxysmal-movement-disorders-and-epileptic-seizures-without-hemiplegic-attacks-about-three-children-with-novel-atp1a3-mutations
#7
Pauline Marzin, Cyril Mignot, Nathalie Dorison, Louis Dufour, Dorothée Ville, Anna Kaminska, Eleni Panagiotakaki, Anne-Sophie Dienpendaele, Marie-José Penniello, Marie-Christine Nougues, Boris Keren, Christel Depienne, Caroline Nava, Mathieu Milh, Laurent Villard, Christian Richelme, Clotilde Rivier, Sandra Whalen, Delphine Heron, Gaëtan Lesca, Diane Doummar
OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close phenotype and discuss the relationship of this phenotype to alternating hemiplegia of childhood...
May 31, 2018: Brain & Development
https://www.readbyqxmd.com/read/29860789/transcranial-direct-current-stimulation-combined-with-action-observation-and-electromyographic-biofeedback-training-in-a-patient-with-writer-s-cramp
#8
Yohei Okada, Chiharu Shibamoto, Yukari Osumi, Chihiro Asano, Riho Takeuchi, Sachio Nabeshima, Shu Morioka, Koji Shomoto
We present a 47-year-old right-handed woman with a 15-year history of writer's cramp who was provided with six sessions of cathodal transcranial direct current stimulation (tDCS) combined with observation of writing actions performed by a healthy subject and electromyographic (EMG) biofeedback training to decrease EMG activities in her right forehand muscles while writing for 30 min for 4 weeks. She showed improvement in dystonic posture and writing speed after the intervention. The writing movement and writing speed scores on a writer's cramp rating scale decreased, along with writing time...
May 2018: Journal of Movement Disorders
https://www.readbyqxmd.com/read/29851841/when-dysphoria-is-not-a-primary-mental-state-a-case-report-of-the-role-of-the-aromatic-l-aminoacid-decarboxylase
#9
Simona Portaro, Agnese Gugliandolo, Domenico Scionti, Simona Cammaroto, Rosa Morabito, Salvatore Leonardi, Filippo Fraggetta, Placido Bramanti, Emanuela Mazzon
RATIONALE: The aromatic L-amino acid decarboxylase (AADC) deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder caused by a deficit of the AADC that is involved in serotonin and dopamine biosynthesis, causing as a consequence, their deficits, but also a lack of norepinephrine and epinephrine, given that dopamine is their precursor. PATIENT CONCERNS: We report the case of a Caucasian 43-year-old woman heterozygous for p.Ser250Phe in DDC, encoding for AADC with a positive family history for behavioral problems...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29845970/dystonic-storm-an-atypical-presentation-of-subacute-sclerosing-panencephalitis
#10
Jyotindra Narayan Goswami, Shuvendu Roy
No abstract text is available yet for this article.
May 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29803873/transcranial-magnetic-stimulation-in-myoclonus-of-different-aetiologies
#11
REVIEW
Raffaele Nardone, Viviana Versace, Yvonne Höller, Luca Sebastianelli, Francesco Brigo, Piergiorgio Lochner, Stefan Golaszewski, Leopold Saltuari, Eugen Trinka
Transcranial magnetic stimulation (TMS) may represent a valuable tool for investigating important neurophysiological and pathophysiological aspects of myoclonus. Moreover, repetitive TMS (rTMS) can influence neural activity. In this review we performed a systematic search of all studies using TMS in order to explore cortical excitability/plasticity and rTMS for the treatment of myoclonus due to different aetiologies. We identified and reviewed 40 articles matching the inclusion criteria; 415 patients were included in these studies...
May 24, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29794768/clinical-characteristics-and-functional-status-of-children-with-different-subtypes-of-dyskinetic-cerebral-palsy
#12
Dianrong Sun, Qiang Wang, Mei Hou, Yutang Li, Rong Yu, Jianhui Zhao, Ke Wang
Dyskinetic cerebral palsy (CP) is the second major subtype of CP. Dyskinetic CP can be classified into different subtypes, but the exact clinical characteristics of these subtypes have been poorly studied. To investigate the clinical characteristics and functional classification of dyskinetic CP from the perspective of neurologic subtypes in a hospital-based follow-up study.This was an observational study of consecutive children with dyskinetic CP treated at The Affiliated Women & Children Hospital of Qingdao University (China) from October 2005 to February 2015...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29778428/status-dystonicus-due-to-missense-variant-in-arx-diagnosis-and-management
#13
Kathleen M Gorman, Heather Cary, Laura Gaffney, Eva Forman, Dympna Waldron, Fowzy Al-Delami, Bryan J Lynch, Mary D King, Nicholas M Allen
Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g. SCN2A, CDKL5, ARX). The associated movement disorder can be challenging to recognise and treat. We report a 2 year-old boy with a background history of Ohtahara syndrome due to a missense variant in ARX (the aristaless-related homeobox gene) who subsequently developed status dystonicus. ARX is a transcription factor that plays a critical role in cortical neuronal development and is associated with a range of important neurodevelopmental disorders depending on the site of the pathogenic variant...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29763510/trihexyphenidyl-for-dystonia-in-cerebral-palsy
#14
REVIEW
Adrienne R Harvey, Louise B Baker, Dinah Susan Reddihough, Adam Scheinberg, Katrina Williams
BACKGROUND: Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. The involuntary contractions are often very painful and distressing and cause significant limitations to activity and participation...
May 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29756462/lgi1-antibody-encephalitis-and-psychosis
#15
Dahai Wang, Qinjian Hao, Lan He, Qiang Wang
OBJECTIVE: To describe a case of leucine-rich, glioma inactivated 1 antibody-encephalitis presenting with psychosis. METHODS: Case report. RESULTS: A young man with leucine-rich, glioma inactivated 1-antibody encephalitis initially presented with acute psychotic symptoms, short-term memory loss and faciobrachial dystonic seizures. Magnetic resonance imaging revealed hippocampal lesions. Electroencephalography revealed frontotemporal slowing of background activity...
May 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/29750732/the-patchy-tremor-landscape-recent-advances-in-pathophysiology
#16
Freek Nieuwhof, Pattamon Panyakaew, Bart P van de Warrenburg, Cecile Gallea, Rick C Helmich
PURPOSE OF REVIEW: We focus on new insights in the pathophysiology of Parkinson's disease tremor, essential tremor, tremor in dystonia, and orthostatic tremor. RECENT FINDINGS: Neuroimaging findings suggest that Parkinson's disease resting tremor is associated with dopaminergic dysfunction, serotonergic dysfunction, or both. Not all tremors in Parkinson's disease have the same pathophysiology: postural tremor in Parkinson's disease can be subdivided into pure postural tremor, which involves nondopaminergic mechanisms, and re-emergent tremor, which has a dopaminergic basis...
May 9, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29725840/pallidal-deep-brain-stimulation-in-juvenile-huntington-s-disease-local-field-potential-oscillations-and-clinical-data
#17
Stefano Ferrea, Stefan J Groiss, Saskia Elben, Christian J Hartmann, Steve B Dunnett, Anne Rosser, Carsten Saft, Alfons Schnitzler, Jan Vesper, Lars Wojtecki
BACKGROUND: Recently, therapeutic attempts to control motor choreatic hyperkinesia of Huntington's disease (HD) by means of pallidal deep brain stimulation (Gp-DBS) were successful. With respect to the clinical effects of Gp-DBS in juvenile hypokinetic-rigid HD (jHD; Westphal variant), only one single-case has been reported up to date. Oscillatory patterns of the Gp in jHD are not known. OBJECTIVES AND METHODS: This work aimed to analyse pallidal local field potential oscillations (LFP) in two patients with jHD treated with Gp-DBS...
May 3, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29721918/patterns-evolution-and-severity-of-striatal-injury-in-insidious-versus-acute-onset-glutaric-aciduria-type-1
#18
Nikolas Boy, Sven F Garbade, Jana Heringer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Striatal injury in patients with glutaric aciduria type 1 (GA1) results in a complex, predominantly dystonic, movement disorder. Onset may be acute following acute encephalopathic crisis (AEC) or insidious without apparent acute event. METHODS: We analyzed clinical and striatal magnetic resonance imaging (MRI) findings in 21 symptomatic GA1 patients to investigate if insidious- and acute-onset patients differed in timing, pattern of striatal injury, and outcome...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29701436/-abnormal-movements-and-internal-medicine-pathologies
#19
Joseph Ghika
Hyperkinesias can be revelaed by an internal medicine pathology. An acute chorea can be found in association with non ketotic hypergycemia, lupus, antiphospholipid syndrome, endocrinopathies, pregnancy or oral contraceptive initiation, or psychostimulant medication. Acute dystonic syndromes are found in association with the initiation of an old generation neuroleptic, metoclopramide, oral contraceptive and pregnancy. It should be differentiated from hyper- or hypo-calcémie tetany. Tremors are found in association with many drugs and hormones...
April 25, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29699386/the-effect-of-umbilical-cord-derived-mesenchymal-stem-cell-transplantation-in-a-patient-with-cerebral-palsy-a-case-report
#20
Sibel Çağlar Okur, Sinan Erdoğan, Cansu Subaşı Demir, Gülşen Günel, Erdal Karaöz
Background: Cerebral Palsy (CP) is the most common motor disability reason of childhood that occurs secondarily to non-progressive damage in the brain whose development is still ongoing. Methods: 6-year-old dystonic-spastic male CP patient received allogenic mesenchymal stem cells treatment four times as 1×10⁶/kg in intrathecal and intravenous administration of Umbilical Cord-derived mesenchymal stem cells (UC-MSCs) ways. Before and after the treatment, the patient was followed-up with FIM (Functional Independent Measurement), GMFCS (Gross Motor Function Classification System 88), Tardieu Scale, TCMS (Trunk Control Measurement Scale), MACS (Manual Ability Classification Scale), CFSS (Communication Function Classification System) for 18 months and received intensive rehabilitation...
May 30, 2018: International Journal of Stem Cells
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