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https://www.readbyqxmd.com/read/28628235/expanded-phenotypes-and-outcomes-among-256-lgi1-caspr2-igg-positive-patients
#1
Avi Gadoth, Sean J Pittock, Divyanshu Dubey, Andrew McKeon, Jeff W Britton, John E Schmeling, Aurelia Smith, Amy L Kotsenas, Robert E Watson, Daniel H Lachance, Eoin P Flanagan, Vanda A Lennon, Christopher J Klein
OBJECTIVE: To describe an expanded phenotypic spectrum and longitudinal outcome in 256 LGI1-IgG or CASPR2-IgG seropositive patients. METHODS: Patients were identified through service neural autoantibody evaluation. Ninety-five had longitudinal follow-up (7-456 months; median 35). RESULTS: Among 3,910 patients tested, 196 were LGI1-IgG-positive; 51 were CASPR2-IgG-positive and 9 were dual-positive. CSF-testing was less sensitive than serum-testing, detecting only 24/38 LGI1-IgG-positive (63%) and 5/6 CASPR2-IgG-positive (83%)...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28626979/electro-clinical-criteria-and-surgical-outcome-is-there-a-difference-between-mesial-and-lesional-temporal-lobe-epilepsy
#2
M Wassenaar, F S S Leijten, G-J de Haan, S G Uijl, J W Sander
OBJECTIVES: Mesial temporal lobe epilepsy syndrome (MTLE) with specific electrophysiological and clinical characteristics and hippocampal sclerosis (HS) on MRI is considered the prototype of a syndrome with good surgical prognosis. Ictal onset zones in MTLE have been found to extend outside the hippocampus and neocortical seizures often involve mesial structures. It can, thus, be questioned whether MTLE with HS is different from lesional temporal epilepsies with respect to electro-clinical characteristics and surgical prognosis...
June 18, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28604409/posture-dependent-dysphagia-after-botulinum-toxin-type-a-injection-at-sternocleidomastoid-in-a-patient-with-athetoid-cerebral-palsy
#3
Won Kee Chang, Keewon Kim, Han Gil Seo, Ja-Ho Leigh, Moon Suk Bang
Cervical dystonia is a common issue in patients with athetoid cerebral palsy. Botulinum toxin injection to dystonic cervical muscles is a well-recognized treatment option, but it is known to be associated with dysphagia. Previously reported cases of dysphagia after botulinum toxin injection to the sternocleidomastoid muscle were related to the regional spread of toxin to the pharyngeal muscles. We report a unique case of posture-dependent dysphagia due to preactivation of the suprahyoid and infrahyoid muscles to compensate for impaired head stabilization by the weakened sternocleidomastoid muscle while swallowing...
June 9, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28604158/a-stepwise-approach-decreasing-infection-in-deep-brain-stimulation-for-childhood-dystonic-cerebral-palsy
#4
Stephen J Johans, Kevin N Swong, Ryan C Hofler, Douglas E Anderson
Dystonia is a movement disorder characterized by involuntary muscle contractions, which cause twisting movements or abnormal postures. Deep brain stimulation has been used to improve the quality of life for secondary dystonia caused by cerebral palsy. Despite being a viable treatment option for childhood dystonic cerebral palsy, deep brain stimulation is associated with a high rate of infection in children. The authors present a small series of patients with dystonic cerebral palsy who underwent a stepwise approach for bilateral globus pallidus interna deep brain stimulation placement in order to decrease the rate of infection...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28596119/alterations-of-m1-and-m4-acetylcholine-receptors-in-the-genetically-dystonic-dt-sz-hamster-and-moderate-antidystonic-efficacy-of-m1-and-m4-anticholinergics
#5
Melanie Hamann, Jagoda Plank, Franziska Richter, Christoph Bode, Sinisa Smiljanic, Meaghan Creed, José N Nobrega, Angelika Richter
Striatal cholinergic dysfunction has been suggested to play a critical role in the pathophysiology of dystonia. In the dt(sz) hamster, a phenotypic model of paroxysmal dystonia, M1 antagonists exerted moderate antidystonic efficacy after acute systemic administration. In the present study, we examined the effects of the M4 preferring antagonist tropicamid and whether long-term systemic or acute intrastriatal injections of the M1 preferring antagonist trihexyphenidyl are more effective in mutant hamsters. Furthermore, M1 and M4 receptors were analyzed by autoradiography and immunohistochemistry...
June 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28594097/functional-activity-of-the-sensorimotor-cortex-and-cerebellum-relates-to-cervical-dystonia-symptoms
#6
Roxana G Burciu, Christopher W Hess, Stephen A Coombes, Edward Ofori, Priyank Shukla, Jae Woo Chung, Nikolaus R McFarland, Aparna Wagle Shukla, Michael S Okun, David E Vaillancourt
Cervical dystonia (CD) is the most common type of focal dystonia, causing abnormal movements of the neck and head. In this study, we used noninvasive imaging to investigate the motor system of patients with CD and uncover the neural correlates of dystonic symptoms. Furthermore, we examined whether a commonly prescribed anticholinergic medication in CD has an effect on the dystonia-related brain abnormalities. Participants included 16 patients with CD and 16 healthy age-matched controls. We collected functional MRI scans during a force task previously shown to extensively engage the motor system, and diffusion and T1-weighted MRI scans from which we calculated free-water and brain tissue densities...
June 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28586706/lgi1-antibody-encephalitis-is-characterised-by-frequent-multifocal-clinical-and-subclinical-seizures
#7
Sidra Aurangzeb, Mkael Symmonds, Ravi K Knight, Robin Kennett, Tim Wehner, Sarosh R Irani
PURPOSE: To describe clinical and electrographic characteristics of seizures LGI1-antibody encephalitis, and their correlations with two-year outcomes. METHODS: Video-electroencephalography recordings were performed on a cohort of 16 consecutive patients with LGI1-antibodies from two UK neuroscience-centers over five-years. RESULTS: From 14 of 16 patients (13 males; age-range 53-92years), 86 faciobrachial dystonic seizures were recorded at a median frequency of 0...
May 30, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28586458/disease-stabilization-of-dyt1-positive-primary-generalized-dystonia-with-deep-brain-stimulation-of-the-globus-pallidus-interna-a-15-yr-follow-up
#8
Derrick A Dupre, Raj Nangunoori, Sravanthi Koduri, Cindy Angle, Diane Cantella, Donald Whiting
BACKGROUND AND IMPORTANCE: Primary generalized dystonia (PGD) is a genetic form of dystonia that frequently displays pharmacological resistance and progresses quickly after onset. Deep brain stimulation (DBS) has been used successfully to treat refractory dystonia, specifically globus pallidus interna (GPi) DBS for DYT1-positive PGD patients. Long-term follow-up of the safety and efficacy falls short of the longevity seen in other diseases treated with DBS. CASE PRESENTATION: A male patient presented for neurosurgical evaluation with scapular winging, hand contractures, and violent truncal spasms, which forced him to be bedridden...
June 6, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28561207/genetic-phenotypic-and-interferon-biomarker-status-in-adar1-related-neurological-disease
#9
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton, Maria Luisa Carpanelli, Alfredo M Cerisola, Cindy Colson, Russell C Dale, Federica Rachele Danti, Niklas Darin, Begoña De Azua, Valentina De Giorgis, Christian G L De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael C Fahey, Penny Fallon, Alex Fay, Elisa Fazzi, Mark P Gorman, Nirmala Rani Gowrinathan, Marie Hully, Manju A Kurian, Nicolas Leboucq, Jean-Pierre S-M Lin, Matthew A Lines, Soe S Mar, Reza Maroofian, Laura Martí-Sanchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Dario Ortigoza-Escobar, Belén Pérez-Dueñas, Florence Petit, Keri M Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez-Pombo, Agathe Roubertie, Tommy I Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H Livingston, Yanick J Crow
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p...
June 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28555833/predictive-models-in-the-diagnosis-and-treatment-of-autoimmune-epilepsy
#10
Divyanshu Dubey, Jaysingh Singh, Jeffrey W Britton, Sean J Pittock, Eoin P Flanagan, Vanda A Lennon, Jan-Mendelt Tillema, Elaine Wirrell, Cheolsu Shin, Elson So, Gregory D Cascino, Dean M Wingerchuk, Matthew T Hoerth, Jerry J Shih, Katherine C Nickels, Andrew McKeon
OBJECTIVE: To validate predictive models for neural antibody positivity and immunotherapy response in epilepsy. METHODS: We conducted a retrospective study of epilepsy cases at Mayo Clinic (Rochester-MN; Scottsdale-AZ, and Jacksonville-FL) in whom autoimmune encephalopathy/epilepsy/dementia autoantibody testing profiles were requested (06/30/2014-06/30/2016). An Antibody Prevalence in Epilepsy (APE) score, based on clinical characteristics, was assigned to each patient...
May 26, 2017: Epilepsia
https://www.readbyqxmd.com/read/28549726/spasticity-dyskinesia-and-ataxia-in-cerebral-palsy-are-we-sure-we-can-differentiate-them
#11
H Eggink, D Kremer, O F Brouwer, M F Contarino, M E van Egmond, A Elema, K Folmer, J F van Hoorn, L A van de Pol, V Roelfsema, M A J Tijssen
OBJECTIVE: Cerebral palsy (CP) can be classified as spastic, dyskinetic, ataxic or combined. Correct classification is essential for symptom-targeted treatment. This study aimed to investigate agreement among professionals on the phenotype of children with CP based on standardized videos. METHODS: In a prospective, observational pilot study, videos of fifteen CP patients (8 boys, mean age 11 ± 5 y) were rated by three pediatric neurologists, three rehabilitation physicians and three movement disorder specialists...
May 9, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28546310/heterozygous-gnal-mice-are-a-novel-animal-model-to-study-dystonia-pathophysiology
#12
Assunta Pelosi, Fabien Menardy, Daniela Popa, Jean-Antoine Girault, Denis Hervé
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions. Its pathophysiological mechanisms are still poorly understood. Dominant mutations of the GNAL gene are a cause of isolated dystonia (DYT25) in patients. Some mutations result in a complete loss of function of the encoded protein, Gαolf, an adenylyl-cyclase-stimulatory G protein highly enriched in striatal projection neurons, in which it mediates the actions of dopamine and adenosine. We used male and female heterozygous Gnal knockout mice (Gnal+/-) to study how GNAL haplodeficiency is implicated in dystonia...
May 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28539959/tardive-dystonia-related-with-aripiprazole
#13
Sunghwan Kim, Seung-Yup Lee, MinSeob Kim, Kyoung-Uk Lee
Tardive dystonia is characterized by sustained, generally slow involuntary twisting movements. It is estimated to occur at a frequency of 1% to 4% among patients who are taking an antipsychotic agent. Unlike the first generation antipsychotics, the second generation antipsychotics are less likely to cause neuroleptic-induced movement disorder. For aripiprazole, only a few cases have been reported for tardive dystonia. We present a young male, who developed a severe tardive dystonia after taking aripiprazole for 5 years...
May 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28515556/subacute-noninfective-inflammatory-encephalopathy-our-experience-and-diagnostic-problems
#14
Sadanandavalli Retnaswami Chandra, Lakshminarayanapuram Gopal Viswanathan, Dodmalur Malikarjuna Sindhu, Anupama Ramakanth Pai
INTRODUCTION: Immune dysregulation associated encephalopathies present with significant psychiatric manifestations and only a few soft neurological and general systemic features. They are generally resistant to treatment with psychiatric medications. Generalized orthostatic myoclonus and faciobrachial dystonic seizures are mistaken as Creutzfeldt-Jakob disease and subacute sclerosing panencephalitis. PATIENTS AND METHODS: Forty-two patients seen during 2010-2015 and diagnosed as noninfective encephalopathy were analyzed...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28510035/ketone-bodies-as-a-possible-adjuvant-to-ketogenic-diet-in-pdhc-deficiency-but-not-in-glut1-deficiency
#15
F Habarou, N Bahi-Buisson, E Lebigot, C Pontoizeau, M T Abi-Warde, A Brassier, K H Le Quan Sang, C Broissand, S Vuillaumier-Barrot, A Roubertie, A Boutron, C Ottolenghi, P de Lonlay
OBJECTIVE: Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS). Because high-fat diet raises serious compliance issues, we investigated if oral L,D-3-hydroxybutyrate administration could be as effective as ketogenic diet in PDHD and GLUT1-DS. METHODS: We designed a partial or total progressive substitution of KD with L,D-3-hydroxybutyrate in three GLUT1-DS and two PDHD patients...
May 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#16
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R Bartram, Ute Moog
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28488615/sensory-tricks-in-primary-blepharospasm-and-idiopathic-cervical-dystonia
#17
Sanjay Pandey, Gulab Soni, Neelav Sarma
OBJECTIVE: To study the frequency, types, phenomenology, and effectiveness of sensory tricks in patients with primary blepharospasm and idiopathic cervical dystonia. BACKGROUND: Sensory tricks are maneuvers seen in patients with dystonia, which are used to temporarily reduce the severity of dystonic postures. In different types of dystonia, the frequency of sensory tricks have been described to range from 17-89%. MATERIALS AND METHODS: In this cross-sectional observational study, we analyzed the frequency, types, phenomenology, and effectiveness of sensory tricks in 20 patients with primary blepharospasm and 20 patients with idiopathic cervical dystonia, respectively...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28482428/-clinical-analysis-of-9-cases-with-anti-leucine-rich-glioma-inactivated-1-protein-antibody-associated-limbic-encephalitis
#18
Y X Zhang, H L Yang, Y Y Wu, C C Wang, X Y Gao, Y Y Shi, H Q Liu, Y Huang, J W Zhang
Objective: This study was to describe the clinical characteristics of Anti-leucine-rich glioma inactivated 1 protein(LGI1) antibody associated limbic encephalitis. Methods: Clinical data including clinical features, laboratory and radiological findings, treatment and prognosis of the 9 patients were analyzed. Results: In all 9 cases, 6 cases experienced epileptic seizure, 5 cases had psychosis, 7 cases presented with memory impairment, 4 cases showed faciobrachial dystonic seizure, 2 had refractory hyponatremia...
May 9, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#19
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28452906/reversible-pisa-syndrome-induced-by-rivastigmine-in-a-patient-with-early-onset-alzheimer-disease
#20
Chih-Wei Hsu, Yu Lee, Chun-Yi Lee, Pao-Yen Lin
Pisa syndrome (PS) is a state of dystonic muscle contraction with a marked truncal deviation to one side. It is an uncommon adverse effect of antipsychotic drugs, but is rarely reported in patients receiving acetylcholinesterase inhibitors, especially rivastigmine. We present a 57-year-old female patient with Alzheimer disease who began to develop symptoms of dementia at the age of 51 years. She was observed to have symptoms of PS after continuous use of rivastigmine (9 mg/d) for nearly 2 years. The PS symptoms improved after the dose of rivastigmine was reduced but recurred when the dose was added back to 9 mg/d...
May 2017: Clinical Neuropharmacology
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