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https://www.readbyqxmd.com/read/28087438/dopa-responsive-dystonia-in-chinese-patients-including-a-novel-heterozygous-mutation-in-the-gch1-gene-with-an-intermediate-phenotype-and-one-case-of-prenatal-diagnosis
#1
Wen Zhang, Zhizi Zhou, Xiuzhen Li, Yonglan Huang, Taolin Li, Yunting Lin, Yongxian Shao, Hao Hu, Hongsheng Liu, Li Liu
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis and molecular mutational analysis in five Chinese patients with DRD...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28081261/the-role-of-tor1a-polymorphisms-in-dystonia-a-systematic-review-and-meta-analysis
#2
Vasileios Siokas, Efthimios Dardiotis, Evangelia E Tsironi, Georgios Tsivgoulis, Dimitrios Rikos, Maria Sokratous, Stylianos Koutsias, Konstantinos Paterakis, Georgia Deretzi, Georgios M Hadjigeorgiou
IMPORTANCE: A number of genetic loci were found to be associated with dystonia. Quite a few studies have been contacted to examine possible contribution of TOR1A variants to the risk of dystonia, but their results remain conflicting. The aim of the present study was to systematically evaluate the effect of TOR1A gene SNPs on dystonia and its phenotypic subtypes regarding the body distribution. METHODS: We performed a systematic review of Pubmed database to identify all available studies that reported genotype frequencies of TOR1A SNPs in dystonia...
2017: PloS One
https://www.readbyqxmd.com/read/28077492/dystonia-treatment-patterns-of-medication-use-in-an-international-cohort
#3
Sarah Pirio Richardson, Ashley R Wegele, Betty Skipper, Amanda Deligtisch, H A Jinnah
OBJECTIVE: To determine the frequency of medication use in patients with dystonia enrolled in an international biorepository study. METHODS: In a cross-sectional analysis, we included 2,026 participants enrolled at 37 sites in the United States, Canada, Europe, and Australia through Project 1 of the Dystonia Coalition, an international biorepository study. The primary aim was to assess the frequency of medication classes recommended for treating patients with dystonia, and the secondary aim was to compare characteristics (disease type, age, sex, duration of disease, comorbid conditions, severity)...
January 11, 2017: Neurology
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#4
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#5
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28063895/improvement-of-table-tennis-dystonia-by-stereotactic-ventro-oral-thalamotomy-a-case-report
#6
Takashi Asahi, Takaomi Taira, Kiyonobu Ikeda, Jiro Yamamoto, Shuji Sato
BACKGROUND: Task-specific focal dystonia, such as writer's cramp and musician's cramp, is a type of dystonia that affects performance of particular tasks. Such movement disorders have been treated with stereotactic ventro-oral (Vo) thalamotomy, with excellent outcomes. However, there has been no previous report of treatment of sport-related/athlete's dystonia by means of stereotactic surgery. We treated a patient with table tennis-related dystonia with Vo thalamotomy, and evaluated the outcome...
January 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28060200/early-fever-as-a-predictor-of-paroxysmal-sympathetic-hyperactivity-in-traumatic-brain-injury
#7
Holly E Hinson, Martin A Schreiber, Amber L Laurie, Ian J Baguley, Dennis Bourdette, Geoffrey S F Ling
OBJECTIVE: Paroxysmal sympathetic hyperactivity (PSH) is characterized by episodic, hyperadrenergic alterations in vital signs after traumatic brain injury (TBI). We sought to apply an objective scale to the vital sign alterations of PSH in order to determine whether 1 element might be predictive of developing PSH. SETTING/PARTICIPANTS/DESIGN: We conducted an observational study of consecutive TBI patients (Glasgow Coma Scale score ≤12) and monitored the cohort for clinical evidence of PSH...
January 5, 2017: Journal of Head Trauma Rehabilitation
https://www.readbyqxmd.com/read/28059473/striosomal-dysfunction-affects-behavioral-adaptation-but-not-impulsivity-evidence-from-x-linked-dystonia-parkinsonism
#8
Christian Beste, Moritz Mückschel, Raymond Rosales, Aloysius Domingo, Lillian Lee, Arlene Ng, Christine Klein, Alexander Münchau
BACKGROUND: Executive functions including behavioral adaptation and impulse control are commonly impaired in movement disorders caused by striatal pathology. However, as yet it is unclear what aspects of behavioral abnormalities are related to pathology in which striatal subcomponent, that is, the matrix and the striosomes. We therefore studied cognitive control in X-linked dystonia-parkinsonism, a model disease of striosomal degeneration, using behavioral paradigms and EEG. METHODS: We studied genetically confirmed X-linked dystonia-parkinsonism patients (N = 21) in their early disease stages and healthy matched controls...
January 6, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28057843/diphenhydramine-for-acute-extrapyramidal-symptoms-after-propofol-administration
#9
James Sherer, Tomas Salazar, Kevin B Schesing, Shannon McPartland, Jeffrey Kornitzer
Extrapyramidal symptoms are an uncommon but well-recognized side effect after the administration of general anesthesia in patients without a significant neurologic history. Several case reports implicate propofol as the likely causative agent producing these symptoms, which include ballismus, dystonia, choreoathetosis, and opisthotonus. Currently, there is no clear consensus on first-line treatment of these symptoms. In each of the published cases, anticholinergic medications and benzodiazepines were central to initial management, although the speed and extent of symptom resolution were variable...
January 5, 2017: Pediatrics
https://www.readbyqxmd.com/read/28055131/subthalamic-nuclei-stimulation-in-patients-with-pantothenate-kinase-associated-neurodegeneration-pkan
#10
Ziyuan Liu, Yang Liu, Yingmai Yang, Lin Wang, Wanchen Dou, Jinzhu Guo, Yu Wang, Yi Guo, Xinhua Wan, Wenbin Ma, Renzhi Wang
INTRODUCTION: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep brain stimulation (DBS) has been reported, but mainly focuses on targeting the globus pallidus internus (GPi). Subthalamic nuclei (STN) may also be a potential target for treatment of PKAN. METHODS: In this study, we reviewed three patients with PKAN (two with typical PKAN and one with atypical PKAN) treated by bilateral STN stimulation and present a review of the literature...
January 5, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28054172/the-occurrence-of-lateral-shift-in-cervical-dystonia
#11
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/28045840/acute-dystonia-versus-neuroleptic-malignant-syndrome-without-fever-in-an-eight-year-old-child
#12
Rita Sridaran, Chadd E Nesbit
Neuroleptic malignant syndrome (NMS) is a rare but potentially fatal complication of the use of certain medications. It is being seen more often in the pediatric population because of the increasing use of both typical and atypical antipsychotics in children. Rapid recognition of NMS is important to emergency physicians because timely treatment can be life saving. Acute dystonia is also a well-known and more common adverse effect of certain types of antipsychotics, more commonly seen with the typical antipsychotics versus the atypical antipsychotics...
January 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28042592/paroxysmal-nonepileptic-events-in-glut1-deficiency
#13
Joerg Klepper, Baerbel Leiendecker, Christin Eltze, Nicole Heussinger
View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events...
November 2016: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28039522/focal-task-specific-dystonia-a-review-and-update
#14
Christine M Stahl, Steven J Frucht
In this review, we summarize recent advances in understanding the etiology, risk factors and pathophysiology of focal task specific dystonia (FTSD), movement disorders characterized by abnormal motor activation during the performance of specific, repetitive actions. We focus on two common FTSD, musician's dystonia and writer's cramp. FTSD may pose a threat to the patient's livelihood, and improved therapeutic treatments are needed.
December 30, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/28034621/a-child-is-not-a-small-adult-complications-in-deep-brain-stimulation-in-children-surgical-safety-and-complications-of-deep-brain-stimulation-for-childhood-dystonia
#15
EDITORIAL
Maija Lahtinen
No abstract text is available yet for this article.
December 21, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28027860/from-nocturnal-frontal-lobe-epilepsy-to-sleep-related-hypermotor-seizures-a-35-year-diagnostic-challenge
#16
Paolo Tinuper, Francesca Bisulli
Nocturnal frontal lobe epilepsy (NFLE) is a focal epilepsy with seizures arising mainly during sleep and characterized by complex, often bizarre, motor behavior or sustained dystonic posturing. First described in 1981, it was initially considered a motor disorder of sleep and was named nocturnal paroxysmal dystonia (NPD). The unusual seizure semiology, onset during sleep, and often uninformative scalp EEG and brain MRI make it difficult to distinguish NPD attacks from other non-epileptic nocturnal paroxysmal events, namely parasomnias...
December 15, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28027144/orthopaedic-surgery-in-dystonic-cerebral-palsy
#17
Francesco C Blumetti, Jenny Chia Ning Wu, Federica Barzi, Matthias W Axt, Mary-Clare Waugh, Paulo Selber
BACKGROUND: Outcomes after orthopaedic interventions in patients with dystonic cerebral palsy (DCP) are historically regarded as unpredictable. This study aims to evaluate the overall outcome of orthopaedic surgery in children with DCP. METHOD: Children with DCP who underwent lower limb orthopaedic surgery with a minimum follow-up of 12 months were included. Data collected included age at time of surgery, surgical procedures performed, Gross Motor Function Classification System (GMFCS) level, and Barry Albright Dystonia Scale (BADS) score...
December 23, 2016: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28027109/the-relationship-between-early-haloperidol-response-and-associated-extrapyramidal-side-effects
#18
Sean A Rasmussen, Patricia I Rosebush, Michael F Mazurek
BACKGROUND: Early response to antipsychotic medication within 2 weeks of initiating treatment can predict psychiatric outcomes. However, it is unclear whether early response is also predictive of extrapyramidal side effects (EPSs) associated with antipsychotic medications. METHODS: In this study, we investigated 136 consecutive antipsychotic-naive, first-episode psychosis patients naturalistically treated with haloperidol. Patients were assessed at baseline and weekly after treatment initiation using the Brief Psychiatric Rating Scale, Hamilton Depression Rating Scale, and Hamilton Anxiety Rating Scale...
February 2017: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28018198/time-processing-and-motor-control-in-movement-disorders
#19
REVIEW
Laura Avanzino, Elisa Pelosin, Carmelo M Vicario, Giovanna Lagravinese, Giovanni Abbruzzese, Davide Martino
The subjective representation of "time" is critical for cognitive tasks but also for several motor activities. The neural network supporting motor timing comprises: lateral cerebellum, basal ganglia, sensorimotor and prefrontal cortical areas. Basal ganglia and associated cortical areas act as a hypothetical "internal clock" that beats the rhythm when the movement is internally generated. When timing information is processed to make predictions on the outcome of a subjective or externally perceived motor act, cerebellar processing and outflow pathways appear to be primarily involved...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28017799/x-linked-dystonia-parkinsonism-patient-cells-exhibit-altered-signaling-via-nuclear-factor-kappa-b
#20
Christine A Vaine, David Shin, Christina Liu, William Hendriks, Jyotsna Dhakal, Kyle Shin, Nutan Sharma, Cristopher Bragg
X-linked Dystonia-Parkinsonism (XDP) is a progressive neurodegenerative disease involving the loss of medium spiny neurons within the striatum. An XDP-specific haplotype has been identified, consisting of seven sequence variants which cluster around the human TAF1 gene, but a direct relationship between any of these variants and disease pathogenesis has not yet been demonstrated. Because the pathogenic gene lesion remains unclear, it has been difficult to predict cellular pathways which are affected in XDP cells...
December 22, 2016: Neurobiology of Disease
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