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https://www.readbyqxmd.com/read/28714393/interrelationships-between-gut-microbiota-and-host-paradigms-role-in-neurodegenerative-diseases-and-future-prospects
#1
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
#2
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
#3
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...
July 10, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28690922/axial-sensory-tricks-in-chorea-acanthocytosis-insights-into-phenomenology
#4
Roongroj Bhidayasiri, Onanong Jitkritsadakul, Ruth H Walker
BACKGROUND: Trunk flexion and axial extension are characteristic symptoms of chorea-acanthocytosis (ChAc). PHENOMENOLOGY SHOWN: A 41-year-old male with ChAc (confirmed by VPS13A mutations) reported that his involuntary axial movements were significantly ameliorated by either folding his arms over his chest or putting his hands behind his head. EDUCATIONAL VALUE: These apparent "sensory tricks" suggest a dystonic pathophysiology, and also merit further study to analyze their potential for symptom control in ChAc...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28674979/huntington-s-disease-pathogenic-mechanisms-and-therapeutic-targets
#5
Dean J Wright, Thibault Renoir, Laura J Gray, Anthony J Hannan
Huntington's disease (HD) is a tandem repeat disorder involving neurodegeneration and a complex combination of symptoms. These include psychiatric symptoms, cognitive deficits culminating in dementia, and the movement disorder epitomised by motor signs such as chorea. HD is caused by a CAG repeat expansion encoding an extended tract of the amino acid glutamine in the huntingtin protein. This polyglutamine expansion appears to induce a 'change of function', possibly a 'gain of function', in the huntingtin protein, which leads to various molecular and cellular cascades of pathogenesis...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28673613/parkinsonism-and-other-movement-disorders-in-23-cases-of-neurocysticercosis
#6
Fernando Alarcón, Yuri Cedeño, Justo García de Yébenes
INTRODUCTION: Parkinsonism and other movement disorders have been occasionally described in neurocysticercosis (NCC) but their clinical features and pathogenesis are not well understood. METHODS: This is a descriptive study conducted over 20 years. We studied 590 consecutive patients from the NCC Registry at Eugenio Espejo Hospital, Quito, Ecuador, and found 23 subjects who developed movement disorders. We investigated the clinical features, localization of brain lesions, severity of infection and neurological deficit as well as the outcome of the patients...
June 20, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28672395/association-between-motor-symptoms-and-brain-metabolism-in-early-huntington-disease
#7
Véronique Gaura, Sonia Lavisse, Pierre Payoux, Serge Goldman, Christophe Verny, Pierre Krystkowiak, Philippe Damier, Frédéric Supiot, Anne-Catherine Bachoud-Levi, Philippe Remy
Importance: Brain hypometabolism is associated with the clinical consequences of the degenerative process, but little is known about regional hypermetabolism, sometimes observed in the brain of patients with clinically manifest Huntington disease (HD). Studying the role of regional hypermetabolism is needed to better understand its interaction with the motor symptoms of the disease. Objective: To investigate the association between brain hypometabolism and hypermetabolism with motor scores of patients with early HD...
July 3, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28671137/what-do-we-know-about-late-onset-huntington-s-disease
#8
Sai S Chaganti, Elizabeth A McCusker, Clement T Loy
BACKGROUND: Although the typical age of onset for Huntington's disease (HD) is in the fourth decade, between 4.4-11.5% of individuals with HD have a late onset (over 60 years of age). Diagnosis of Late onset HD (LoHD) can be missed, due to the perceived low likelihood of HD in the over 60-year-olds. OBJECTIVE: To review the epidemiology, genotype and phenotype of LoHD. METHODS: We systematically searched MEDLINE, EMBASE and Web of Science (inception-November 2016)...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28661018/clinical-characterization-of-dystonia-in-adult-patients-with-huntington-s-disease
#9
N A van de Zande, T H Massey, D McLauchlan, A Pryce Roberts, R Zutt, M Wardle, G C Payne, C Clenaghan, M A J Tijssen, A E Rosser, K J Peall
BACKGROUND AND PURPOSE: Huntington's disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterized by chorea. Dystonia is also recognized as part of the HD motor phenotype, although little work detailing its prevalence, distribution, severity and impact on functional capacity has been published to date. METHODS: Patients (>18 years of age) were recruited from the Cardiff (UK) HD clinic, each undergoing a standardized videotaped clinical examination and series of functional assessment questionnaires (Unified Huntington's Disease Rating Scale, Burke-Fahn-Marsden Dystonia Rating Scale and modified version of the Toronto Western Spasmodic Torticollis Rating Scale)...
June 29, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28658838/hemi-chorea-in-a-patient-with-ketotic-hyperglycemia-an-unusual-presentation
#10
Pendela Venkata Satish, Kudaravalli Pujitha, Neha Agrawal, Thomas Mathew, Sudha Vidyasagar
Chorea has often been associated with lesions in the basal ganglia and in the sub thalamic nucleus. It is possible for a patient with chorea-ballismus to have hyperglycemia at the initial presentation. We hereby present a case of an 81-year-old female, who was on treatment for type 2 diabetes mellitus and presented to us with sub acute onset of abnormal movements of right side of the body. She had semi purposeful, rapid and jerky movements of right upper limb and lower limb along with abnormal tongue movements...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28649394/functional-neuroimaging-and-chorea-a-systematic-review
#11
REVIEW
Debra J Ehrlich, Ruth H Walker
Chorea is a hyperkinetic movement disorder consisting of involuntary irregular, flowing movements of the trunk, neck or face. Although Huntington's disease is the most common cause of chorea in adults, chorea can also result from many other neurodegenerative, metabolic, and autoimmune conditions. While the pathophysiology of these different conditions is quite variable, recent advances in functional imaging have enabled the development of new methods for analysis of brain activity and neuronal dysfunction. In this paper we review the growing body of functional imaging data that has been performed in chorea syndromes and identify particular trends, which can be used to better understand the underlying network changes within the basal ganglia...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28645789/disruption-of-gaba-a-mediated-intracortical-inhibition-in-patients-with-chorea-acanthocytosis
#12
Raffaele Dubbioso, Marcello Esposito, Silvio Peluso, Rosa Iodice, Giuseppe De Michele, Lucio Santoro, Fiore Manganelli
Chorea-acanthocytosis (Ch-Ac) is an autosomal recessive neurodegenerative disorder characterized by adult-onset chorea, acanthocytes in the peripheral blood, and Huntington's disease-like neuropsychiatric symptoms. Animal studies have shown mutation-related dysregulated cortical gamma-aminobutyric acid (GABA)ergic inhibitory networks in its pathophysiology. Herein we found that in patients with Ch-Ac there is a striking alteration of intracortical inhibitory circuits detected by using paired pulse transcranial magnetic stimulation protocols...
June 20, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28621715/neuropsychiatric-burden-in-huntington-s-disease
#13
REVIEW
Ricardo Augusto Paoli, Andrea Botturi, Andrea Ciammola, Vincenzo Silani, Cecilia Prunas, Claudio Lucchiari, Elisa Zugno, Elisabetta Caletti
Huntington's disease is a disorder that results in motor, cognitive, and psychiatric problems. The symptoms often take different forms and the presence of disturbances of the psychic sphere reduces patients' autonomy and quality of life, also impacting patients' social life. It is estimated that a prevalence between 33% and 76% of the main psychiatric syndromes may arise in different phases of the disease, often in atypical form, even 20 years before the onset of chorea and dementia. We present a narrative review of the literature describing the main psychopathological patterns that may be found in Huntington's disease, searching for a related article in the main database sources (Medline, ISI Web of Knowledge, Scopus, and Medscape)...
June 16, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28616087/acute-rheumatic-fever-clinical-profile-in-children-in-western-ukraine
#14
O Boyarchuk, S Boytsanyuk, T Hariyan
Acute rheumatic fever (ARF) may have different clinical manifestations in different countries according to the genetic predisposition, prevalence of rheumatogenic strains, social and economic conditions. The purpose of this study was to determine the clinical characteristics of ARF in Western Ukraine and to improve the detection of the cases. A retrospective analysis of 85 medical clinical cases of in-hospital patients aged from 4 to 17 years old was performed. The cases covered patients who underwent treatment in the City Children's Hospital of Ternopil during 2000 and 2013 with the ARF diagnosis, which was established according to Jones criteria...
April 2017: Journal of Medicine and Life
https://www.readbyqxmd.com/read/28601961/basal-ganglia-movement-disorders-and-deep-brain-stimulation-advances-made-through-non-human-primate-research
#15
REVIEW
Thomas Wichmann, Hagai Bergman, Mahlon R DeLong
Studies in non-human primates (NHPs) have led to major advances in our understanding of the function of the basal ganglia and of the pathophysiologic mechanisms of hypokinetic movement disorders such as Parkinson's disease and hyperkinetic disorders such as chorea and dystonia. Since the brains of NHPs are anatomically very close to those of humans, disease states and the effects of medical and surgical approaches, such as deep brain stimulation (DBS), can be more faithfully modeled in NHPs than in other species...
June 10, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28589057/treatment-of-sydenham-s-chorea-a-review-of-the-current-evidence
#16
REVIEW
Shannon L Dean, Harvey S Singer
BACKGROUND: Sydenham's chorea (SC), the neurologic manifestation of rheumatic fever, remains the most prevalent form of chorea in children. Suggested treatments of chorea in SC include prophylactic penicillin, symptomatic (antipsychotic and anticonvulsant) medications, and immunomodulatory therapy (steroids, intravenous immunoglobulin (IVIG), and plasma exchange). In this manuscript, we undertook a systematic review of the published literature to examine the data supporting these therapeutic recommendations...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28561176/-early-diagnosis-of-chorea-acanthocytosis-orofacial-dyskinesia-epileptic-seizures-and-hyperckemia
#17
Christian Schneider, Adrian Danek, Arwed Hostmann, Gereon R Fink, Lothar Burghaus
Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency or through molecular genetics (VPS13A mutation).
May 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28556412/patient-reported-outcomes-in-huntington-s-disease-quality-of-life-in-neurological-disorders-neuro-qol-and-huntington-s-disease-health-related-quality-of-life-hdqlife-physical-function-measures
#18
Noelle E Carlozzi, Rebecca E Ready, Samuel Frank, David Cella, Elizabeth A Hahn, Siera M Goodnight, Stephen G Schilling, Nicholas R Boileau, Praveen Dayalu
BACKGROUND: There is a need for patient-reported outcome measures that capture the impact that motor impairments have on health-related quality of life in individuals with Huntington's disease. OBJECTIVES: The objectives of this study were to establish the reliability and validity of new physical functioning patient-reported outcome measures in Huntington's disease. METHODS: A total of 510 individuals with Huntington's disease completed 2 Quality of Life in Neurological Disorders (Lower Extremity Function and Upper Extremity Function) and 3 Huntington's Disease Health-Related Quality of Life (Chorea, Speech Difficulties, and Swallowing Difficulties) measures...
July 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28527175/chorea-and-orofaciolingual-dystonia-in-a-40-year-old-male
#19
Lulup Kumar Sahoo, Kali Prasanna Swain, Ashok Kumar Mallick, Geeta Mohanty, Maheswar Samanta, Srikanta Kumar Sahoo
Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28523552/epigenetics-of-huntington-s-disease
#20
Silvia Bassi, Takshashila Tripathi, Alan Monziani, Francesca Di Leva, Marta Biagioli
Huntington's disease (HD) is a genetic, fatal autosomal dominant neurodegenerative disorder typically occurring in midlife with symptoms ranging from chorea, to dementia, to personality disturbances (Philos Trans R Soc Lond Ser B Biol Sci 354:957-961, 1999). HD is inherited in a dominant fashion, and the underlying mutation in all cases is a CAG trinucleotide repeat expansion within exon 1 of the HD gene (Cell 72:971-983, 1993). The expanded CAG repeat, translated into a lengthened glutamine tract at the amino terminus of the huntingtin protein, affects its structural properties and functional activities...
2017: Advances in Experimental Medicine and Biology
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