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https://www.readbyqxmd.com/read/28936101/acute-generalized-chorea-as-presenting-manifestation-of-uremic-encephalopathy
#1
Rohan R Mahale, Kiran Buddaraju, M S Gireesh, Purushottam Acharya, Rangasetty Srinivasa
No abstract text is available yet for this article.
August 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28901595/movement-disorders-in-genetically-confirmed-mitochondrial-disease-and-the-putative-role-of-the-cerebellum
#2
Sebastian R Schreglmann, Franz Riederer, Marian Galovic, Christos Ganos, Georg Kägi, Daniel Waldvogel, Zane Jaunmuktane, Andre Schaller, Ute Hidding, Ernst Krasemann, Lars Michels, Christian R Baumann, Kailash Bhatia, Hans H Jung
BACKGROUND: Mitochondrial disease can present as a movement disorder. Data on this entity's epidemiology, genetics, and underlying pathophysiology, however, is scarce. OBJECTIVE: The objective of this study was to describe the clinical, genetic, and volumetric imaging data from patients with mitochondrial disease who presented with movement disorders. METHODS: In this retrospective analysis of all genetically confirmed mitochondrial disease cases from three centers (n = 50), the prevalence and clinical presentation of video-documented movement disorders was assessed...
September 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28899347/case-report-of-hyperglycemic-nonketotic-chorea-with-rapid-radiological-resolution
#3
H M M T B Herath, S P Pahalagamage, Sunethra Senanayake
BACKGROUND: Hemichorea is a rare manifestation of nonketotic hyperglycemia that usually affects elderly Asian women with poor glycemic control. Non-contrast computerized Tomography and T1- weighted Magnetic Resonance Imaging shows characteristic hyperintense basal ganglia lesions. CASE PRESENTATION: A Fifty-seven year old Sri Lankan female presented with a two-day history of right upper limb chorea. She had been diagnosed with diabetes mellitus one year ago, but was not on any treatment and did not have any micro vascular or macro vascular complications...
September 12, 2017: BMC Medical Imaging
https://www.readbyqxmd.com/read/28892927/a-rare-instance-of-levofloxacin-induced-myoclonus
#4
Sushil Kiran Kunder, A Avinash, Veena Nayak, Amod Tilak
Levofloxacin is a widely used fluoroquinolone, mainly as a respiratory antimicrobial agent. It is employed as a second line therapeutic modality in pulmonary tuberculosis as well. The drug has been in use for ages, and is known to be both efficacious and safe. However, it is not free of adverse effects. The most dangerous ones are those involving the Central Nervous System (CNS). Although rare, levofloxacin can cause involuntary movements like chorea and myoclonus. Here by, we present a case of an elderly male patient who developed reversible myoclonus/chorea after a course of levofloxacin (which was initiated as part of his anti-tubercular therapy) following the development of peripheral neuropathy secondary to isoniazid...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28884035/cooccurrence-of-chorea-acanthocytosis-and-mesial-temporal-sclerosis-a-possible-role-of-caudate-nucleus
#5
Mehri Salari, Alexander C Lehn, Masoud Etemadifar, Seyed Amir Hejazi
Chorea-acanthocytosis (ChAc) is an orphan disease, caused by mutations on chromosome 9. Epileptic seizures of mesial temporal origin can be a predominant symptom. We report on a 29-year-old woman with ChAc and bilateral MTS. Previously, few patients with coexisting ChAc and MTS were reported. The underlying pathophysiology is unknown, and further studies are needed.
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28878050/antibody-associated-cns-syndromes-without-signs-of-inflammation-in-the-elderly
#6
Domingo Escudero, Mar Guasp, Helena Ariño, Carles Gaig, Eugenia Martínez-Hernández, Josep Dalmau, Francesc Graus
OBJECTIVE: To report the CNS syndromes of patients ≥60 years of age with antibodies against neuronal surface antigens but no evidence of brain MRI and CSF inflammatory changes. METHODS: This was a retrospective clinical analysis of patients with antibodies against neuronal surface antigens who fulfilled 3 criteria: age ≥60 years, no inflammatory abnormalities in brain MRI, and no CSF pleocytosis. Antibodies were determined with reported techniques. RESULTS: Among 155 patients ≥60 years of age with neurologic syndromes related to antibodies against neuronal surface antigens, 35 (22...
September 6, 2017: Neurology
https://www.readbyqxmd.com/read/28846184/yeast-and-other-lower-eukaryotic-organisms-for-studies-of-vps13-proteins-in-health-and-disease
#7
REVIEW
Weronika Rzepnikowska, Krzysztof Flis, Sandra Muñoz-Braceras, Regina Menezes, Ricardo Escalante, Teresa Zoladek
Human Vps13 proteins are associated with several diseases, including the neurodegenerative disorder Chorea-acanthocytosis (ChAc), yet the biology of these proteins is still poorly understood. Studies in Saccharomyces cerevisiae, Dictyostelium discoideum, Tetrahymena thermophila and Drosophila melanogaster point to the involvement of Vps13 in cytoskeleton organization, vesicular trafficking, autophagy, phagocytosis, endocytosis, proteostasis, sporulation and mitochondrial functioning. Recent findings show that yeast Vps13 binds to phosphatidylinositol lipids via 4 different regions and functions at membrane contact sites, enlarging the list of Vps13 functions...
August 28, 2017: Traffic
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#8
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28803243/lithium-sensitivity-of-store-operated-ca2-entry-and-survival-of-fibroblasts-isolated-from-chorea-acanthocytosis-patients
#9
Lisann Pelzl, Bhaeldin Elsir, Itishri Sahu, Rosi Bissinger, Yogesh Singh, Basma Sukkar, Sabina Honisch, Ludger Schoels, Mohamed Jemaà, Elisabeth Lang, Alexander Storch, Andreas Hermann, Christos Stournaras, Florian Lang
BACKGROUND: The widely expressed protein chorein fosters activation of the phosphoinositide 3 kinase (PI3K) pathway thus supporting cell survival. Loss of function mutations of the chorein encoding gene VPS13A (vacuolar protein sorting-associated protein 13A) causes chorea-acanthocytosis (ChAc), a neurodegenerative disorder paralleled by deformations of erythrocytes. In mice, genetic knockout of chorein leads to enhanced neuronal apoptosis. PI3K dependent signalling upregulates Orai1, a pore forming channel protein accomplishing store operated Ca2+ entry (SOCE)...
August 11, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28799704/the-nature-consequences-and-management-of-neurological-disorders-in-chronic-kidney-disease
#10
REVIEW
Bahman Jabbari, Nosratola D Vaziri
Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy...
August 11, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28792249/induced-neural-stem-cells-as-a-means-of-treatment-in-huntington-s-disease
#11
Kyung-Ah Choi, Sunghoi Hong
Huntington's disease (HD) is an inherited neurodegenerative disease characterized by chorea, dementia, and depression caused by progressive nerve cell degeneration, which is triggered by expanded CAG repeats in the huntingtin (Htt) gene. Currently, there is no cure for this disease, nor is there an effective medicine available to delay or improve the physical, mental, and behavioral severities caused by it. Areas covered: In this review, the authors describe the use of induced neural stem cells (iNSCs) by direct conversion technology, which offers great advantages as a therapeutic cell type to treat HD...
August 9, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28789621/tics-as-an-initial-manifestation-of-juvenile-huntington-s-disease-case-report-and-literature-review
#12
Shi-Shuang Cui, Ru-Jing Ren, Ying Wang, Gang Wang, Sheng-Di Chen
BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. CASE PRESENTATION: A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients...
August 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28781502/pharmaceutical-approval-update
#13
Michele B Kaufman
Naldemedine (Symproic) for opioid-induced constipation; deutetrabenazine (Austedo) for chorea associated with Huntington's disease; and infliximab-abda (Renflexis), a Remicade biosimilar, for the treatment of Crohn's disease, rheumatoid arthritis, and other diseases.
August 2017: P & T: a Peer-reviewed Journal for Formulary Management
https://www.readbyqxmd.com/read/28769114/diagnosing-antiphospholipid-syndrome-extra-criteria-manifestations-and-technical-advances
#14
REVIEW
Savino Sciascia, Mary-Carmen Amigo, Dario Roccatello, Munther Khamashta
First described in the early 1980s, antiphospholipid syndrome (APS) is a unique form of acquired autoimmune thrombophilia in which patients present with clinical features of recurrent thrombosis and pregnancy morbidity and persistently test positive for the presence of antiphospholipid antibodies (aPL). At least one clinical (vascular thrombosis or pregnancy morbidity) and one lab-based (positive test result for lupus anticoagulant, anticardiolipin antibodies and/or anti-β2-glycoprotein 1 antibodies) criterion have to be met for a patient to be classified as having APS...
September 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28756176/infection-mediated-autoimmune-movement-disorders
#15
Alberto Cucca, Hamzeh A Migdadi, Alessandro Di Rocco
Infectious diseases remain the most common cause of neurological disability in the world. A number of movement disorders can develop in adults and children in response to infections. These can occur in isolation or as part of a broader neurological illness, with movement abnormalities consequent to an encephalopathy or a broader brain dysfunction. While most infection-related movement disorders are direct consequences of an active infectious process affecting cerebral structures implied in the motor network, at times a delayed immune-mediated process in response to a previous infectious is responsible for the neurological dysfunction...
July 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28745221/rheumatic-heart-disease-pathogenesis-and-vaccine
#16
L Guilherme, S Freschi de Barros, K F Köhler, S R Santos, F Morais Ferreira, W R Silva, R Alencar, E Postol, J Kalil
Rheumatic fever (RF) and rheumatic heart disease (RHD) follow untreated S. pyogenes throat infections in children who present susceptible genes that favor the development of autoimmune reactions. In this review, we focus on the genes that confer susceptibility and on the autoimmune reactions that occur due to molecular mimicry between human-tissue proteins and streptococcal M protein. Polyarthritis is the initial manifestation, which can evolve to carditis and severe valve damage; these culminate in rheumatic heart disease (RHD) or Sydenham's chorea, which affects the central nervous system...
July 25, 2017: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/28743945/lithium-sensitive-orai1-expression-store-operated-ca-2-entry-and-suicidal-death-of-neurons-in-chorea-acanthocytosis
#17
Lisann Pelzl, Stefan Hauser, Bhaeldin Elsir, Basma Sukkar, Itishri Sahu, Yogesh Singh, Philip Höflinger, Rosi Bissinger, Mohamed Jemaà, Christos Stournaras, Ludger Schöls, Florian Lang
Chorea-Acanthocytosis (ChAc), a neurodegenerative disorder, results from loss-of-function-mutations of chorein-encoding gene VPS13A. In tumour cells chorein up-regulates ORAI1, a Ca(2+)-channel accomplishing store operated Ca(2+)-entry (SOCE) upon stimulation by STIM1. Furthermore SOCE could be up-regulated by lithium. The present study explored whether SOCE impacts on neuron apoptosis. Cortical neurons were differentiated from induced pluripotent stem cells generated from fibroblasts of ChAc patients and healthy volunteers...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28714393/interrelationships-between-gut-microbiota-and-host-paradigms-role-in-neurodegenerative-diseases-and-future-prospects
#18
Javier Caballero-Villarraso, Alberto Galvan, Begoña M Escribano, Isaac Túnez
Advances in the knowledge of the microbiota and concepts related to it have triggered a wake-up call in biomedicine. The development in various scientific areas has enabled a better and broader approach to everything concerning the set of families of microorganisms that coexist with an individual and are able to function as one more organ in its body. Among the aforementioned scientific areas, those worth mentioning are the advances/progress in biotechnological resources and, in particular, molecular biology and related areas...
July 14, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28709814/the-therapeutic-implication-of-a-novel-scn2a-mutation-associated-early-onset-epileptic-encephalopathy-with-rett-like-features
#19
Jao-Shwann Liang, Li-Ju Lin, Ming-Tao Yang, Jinn-Shyan Wang, Jyh-Feng Lu
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c...
July 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28692723/safety-of-converting-from-tetrabenazine-to-deutetrabenazine-for-the-treatment-of-chorea
#20
MULTICENTER STUDY
Samuel Frank, David Stamler, Elise Kayson, Daniel O Claassen, Amy Colcher, Charles Davis, Andrew Duker, Shirley Eberly, Lawrence Elmer, Erin Furr-Stimming, Mark Gudesblatt, Christine Hunter, Joseph Jankovic, Sandra K Kostyk, Rajeev Kumar, Clement Loy, William Mallonee, David Oakes, Burton L Scott, Victor Sung, Jody Goldstein, Christina Vaughan, Claudia M Testa
Importance: Tetrabenazine is efficacious for chorea control; however, tolerability concerns exist. Deutetrabenazine, a novel molecule that reduces chorea, was well tolerated in a double-blind, placebo-controlled study. Objectives: To evaluate the safety and explore the efficacy of conversion from tetrabenazine to deutetrabenazine in patients with chorea associated with Huntington disease (HD). Design, Setting, and Participants: In this ongoing, open-label, single-arm study that started on December 21, 2013, 37 patients at 13 Huntington Study Group sites in the United States and Australia who were taking stable doses of tetrabenazine that provided a therapeutic benefit were switched overnight to deutetrabenazine therapy...
August 1, 2017: JAMA Neurology
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