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https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#1
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28079044/chorea-as-unusual-complication-of-fungicide-poisoning
#2
B S Paul, G Paul, J Kaur, G Singh
Chorea is a rare manifestation of poisoning. We report an index case of a young woman who developed generalized chorea following propiconazole toxin ingestion. As large series on neurological complications of toxic compounds are difficult to be compiled, it is of interest to report our experience. This report adds one more compound to the increasing list of toxic chorea.
January 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28063110/toward-the-next-step-in-g-protein-coupled-receptor-research-a-knowledge-driven-analysis-for-the-next-potential-targets-in-drug-discovery
#3
Koji Nagata, Yukie Katayama, Tomomi Sato, Yeondae Kwon, Takeshi Kawabata
More than 800 G protein-coupled receptor (GPCR) genes have been discovered in the human genome. Towards the next step in GPCR research, we performed a knowledge-driven analysis of orphan class-A GPCRs that may serve as novel targets in drug discovery. We examined the relationship between 61 orphan class-A GPCR genes and diseases using the Online Mendelian Inheritance in Man (OMIM) database and the DDSS tool. The OMIM database contains data on disease-related variants of the genes. Particularly, the variants of GPR101, GPR161, and GPR88 are related to the genetic diseases: growth hormone-secreting pituitary adenoma 2, pituitary stalk interruption syndrome (not confirmed), and childhood-onset chorea with psychomotor retardation, respectively...
January 6, 2017: Journal of Structural and Functional Genomics
https://www.readbyqxmd.com/read/28025607/tonsillectomy-remains-a-questionable-option-for-pediatric-autoimmune-neuropsychiatric-disorders-associated-with-streptococcal-infections-pandas
#4
REVIEW
Jochen P Windfuhr
Background: Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) is a disease attributed to children with obsessive compulsive disorders (OCD) or tic disorders associated with streptococcal infections. Because otolaryngologists examine a large number of pediatric patients with recurrent streptococcal infections, tonsillectomy (TE) is a common option of therapy. This study was conducted to evaluate the efficacy of TE in patients presenting with verified PANDAS. Material and methods: A PubMed review was performed using search terms "tonsillectomy" and "PANDAS", "OCD", "compulsive" "pediatric autoimmune", "chorea" and "tic" limited by publication date of January 1, 1995, to July 31, 2015...
2016: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
https://www.readbyqxmd.com/read/28012953/new-insights-in-the-neurological-phenotype-of-aceruloplasminemia-in-caucasian-patients
#5
Lena H P Vroegindeweij, Janneke G Langendonk, Mirjam Langeveld, Mels Hoogendoorn, Anneke J A Kievit, Domenico Di Raimondo, J H Paul Wilson, Agnita J W Boon
INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline...
December 15, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28012542/audiological-findings-in-children-with-ataxia-telangiectasia-a-t-syndrome
#6
Pretty O Afifi, Hanaa Hussein Elsanadiky
AIM: To assess peripheral and central hearing in children with A-T. METHOD: 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27988871/current-pharmacological-approaches-to-reduce-chorea-in-huntington-s-disease
#7
REVIEW
Emma M Coppen, Raymund A C Roos
There are currently no effective pharmacological agents available to stop or prevent the progression of Huntington's disease (HD), a rare hereditary neurodegenerative disorder. In addition to psychiatric symptoms and cognitive impairments, HD causes progressive motor disturbances, in particular choreiform movements, which are characterized by unwanted contractions of the facial muscles, trunk and extremities. Management of choreiform movements is usually advised if chorea interferes with daily functioning, causes social isolation, gait instability, falls, or physical injury...
January 2017: Drugs
https://www.readbyqxmd.com/read/27983566/survey-of-the-huntington-s-disease-patient-and-caregiver-community-reveals-most-impactful-symptoms-and-treatment-needs
#8
Jennifer A Simpson, Debra Lovecky, Jane Kogan, Louise A Vetter, George J Yohrling
BACKGROUND: In preparation for a meeting with the U.S. Food and Drug Administration (FDA) on Patient-Focused Drug Development in Huntington's disease, the Huntington's Disease Society of America (HDSA) created and distributed two comprehensive surveys on the symptom experience and treatment approaches for Huntington's disease. OBJECTIVE: The objective of these surveys was to identify the specific symptoms that most impact the daily lives of individuals with Huntington's disease/Juvenile Huntington's disease (HD/JHD) and their caregivers and to solicit input on the types of treatments desired by HD affected families...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27960157/chorein-sensitive-orai1-expression-and-store-operated-ca2-entry-in-rhabdomyosarcoma-cells
#9
Willi Yu, Sabina Honisch, Sebastian Schmidt, Jing Yan, Evi Schmid, Saad Alkahtani, Abdullah A AlKahtane, Saud Alarifi, Christos Stournaras, Florian Lang
BACKGROUND: Chorein, a protein encoded by VPS13A (vacuolar protein sorting-associated protein 13A), is defective in chorea acanthocytosis, a rare disease characterized by acanthocytosis of red blood cells and neuronal cell death with progressive hyperkinetic movement disorder, cognitive dysfunction, behavioral abnormalities and chronic hyperkalemia. Chorein is highly expressed in ZF rhabdomyosarcoma cells and counteracts apoptosis of those cells. Chorein is effective in part by interacting with and fostering stimulation of phosphoinositide-3-kinase (PI3K)-p85-subunit...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27942067/anaesthetic-management-of-a-patient-with-huntington-s-chorea-undergoing-robot-assisted-nephron-sparing-surgery
#10
Ankita Batra, Neeru Sahni, Uttam K Mete
No abstract text is available yet for this article.
November 2016: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/27928694/effect-of-rutin-against-a-mitochondrial-toxin-3-nitropropionicacid-induced-biochemical-behavioral-and-histological-alterations-a-pilot-study-on-huntington-s-disease-model-in-rats
#11
Sarumani Natarajan Suganya, Thangarajan Sumathi
Dietary compounds like flavonoids may offer protection against neurodegeneration. Huntington's disease (HD) is a neurodegenerative disorder characterized by symptoms like chorea and dementia. 3-Nitropropionic acid (3-NP), a Succinate dehydrogenase (SDH) inhibitor produces behavioral, biochemical and histological changes in the striatum, mimics HD in animals and humans. The present study was designed to examine the protective activity of Rutin (RT), a primary flavonoid from citrus fruits, green tea on 3-NP induced experimental model of HD in rats...
December 8, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27927775/memantine-induced-chorea-and-dystonia
#12
Letizia Goncalves Borges, Borna Bonakdarpour
Memantine is an uncompetitive N-methyl-d-aspartate receptor antagonist and probably also has an indirect dopaminergic action at high concentrations. We describe a person with Alzheimer's disease who developed chorea and dystonia after inadvertently doubling of her daily dose by taking extended-release (XR) memantine twice daily, rather than once daily (planned dose memantine XR, 21 mg once daily), after the drug was switched from immediate release (IR, 10 mg twice daily). Memantine is rarely associated with movement disorders, but this case emphasises the need for awareness of potential problems when switching from memantine IR to XR...
December 7, 2016: Practical Neurology
https://www.readbyqxmd.com/read/27920268/clinical-value-of-perfusion-abnormalities-of-brain-on-technetium-99m-hmpao-single-photon-emission-computed-tomography-in-children-with-sydenham-chorea
#13
Sara Maria Delle Acque Giorgio, Maria Grazia Caprio, Flavia Galante, Giustina Russo, Alfonso Romano, Emilia Vergara, Maria Alessio, Alberto Cuocolo
We evaluated whether perfusion brain abnormalities by single-photon emission computed tomography (SPECT) imaging improves diagnostic and prognostic assessment in Sydenham chorea. Twenty-three children with acute autoimmune chorea underwent technetium-99m hexamethylpropyleneamine oxime brain SPECT imaging. In 16 children, SPECT was repeated during the follow-up. A pattern of basal ganglia hyperperfusion was observed in 20 (87%) patients. In 4 of 10 patients with generalized chorea, perfusion was comparable in right and left striatum and right and left thalamus...
December 5, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#14
Patrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, Kimberly G Harris, Margot A Cousin, Nicole J Boczek, Owen A Ross, Eric W Klee, Paul W Brazis, Jay A Van Gerpen, Paldeep S Atwal
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty...
December 5, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27919056/autoimmune-choreas
#15
REVIEW
Francisco Cardoso
Chorea, a movement disorder characterised by a continuous flow of unpredictable muscle contractions, has a myriad of genetic and non-genetic causes. Although autoimmune processes are rare aetiology of chorea, they are relevant both for researchers and clinicians. The aim of this article is to provide a review of the epidemiology, clinical and laboratory features, pathogenesis and management of the most common autoimmune causes of chorea. Emphasis is given particularly to Sydenham's chorea, systemic lupus erythematosus, primary antiphospolipid antibody syndrome, paraneoplastic chorea and anti-N-methyl-d-aspartate receptor encephalitis...
December 1, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27916449/a-case-of-severe-movement-disorder-with-gnao1-mutation-responsive-to-topiramate
#16
Saori Sakamoto, Yukifumi Monden, Ryoko Fukai, Noriko Miyake, Hiroshi Saito, Akihiko Miyauchi, Ayumi Matsumoto, Masako Nagashima, Hitoshi Osaka, Naomichi Matsumoto, Takanori Yamagata
We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced neuroleptic malignant syndrome. After identification of a GNAO1 missense mutation at the age of 18years, topiramate treatment was initiated and the frequency of chorea decreased dramatically. The efficacy of topiramate may have been related to the inhibitory modulation of voltage-activated Ca(2+) channels...
December 1, 2016: Brain & Development
https://www.readbyqxmd.com/read/27900773/systematic-review-of-immunoglobulin-use-in-paediatric-neurological-and-neurodevelopmental-disorders
#17
REVIEW
Jonathan Gadian, Emma Kirk, Kate Holliday, Ming Lim, Michael Absoud
AIM: A systematic literature review of intravenous immunoglobulin (IVIG) treatment of paediatric neurological conditions was performed to summarize the evidence, provide recommendations, and suggest future research. METHOD: A MEDLINE search for articles reporting on IVIG treatment of paediatric neuroinflammatory, neurodevelopmental, and neurodegenerative conditions published before September 2015, excluding single case reports and those not in English. Owing to heterogeneous outcome measures, meta-analysis was not possible...
February 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27883994/monitoring-huntington-s-disease-mortality-across-a-30-year-period-geographic-and-temporal-patterns
#18
Germán Sánchez-Díaz, Greta Arias-Merino, Ana Villaverde-Hueso, Antonio Morales-Piga, Ignacio Abaitua-Borda, Manuel Hens, Eva Bermejo-Sánchez, Manuel Posada de la Paz, Verónica Alonso-Ferreira
BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. METHODS: HD data were extracted from the nationwide mortality registry for the period 1984-2013. Annual and 5-year gender- and age-specific rates adjusted for the standard European population were calculated...
November 25, 2016: Neuroepidemiology
https://www.readbyqxmd.com/read/27881786/neuronal-dysfunction-in-ipsc-derived-medium-spiny-neurons-from-chorea-acanthocytosis-patients-is-reversed-by-src-kinase-inhibition-and-f-actin-stabilization
#19
Nancy Stanslowsky, Peter Reinhardt, Hannes Glass, Norman Kalmbach, Maximilian Naujock, Niko Hensel, Verena Lübben, Arun Pal, Anna Venneri, Francesca Lupo, Lucia De Franceschi, Peter Claus, Jared Sterneckert, Alexander Storch, Andreas Hermann, Florian Wegner
: Chorea-acanthocytosis (ChAc) is a fatal neurological disorder characterized by red blood cell acanthocytes and striatal neurodegeneration. Recently, severe cell membrane disturbances based on depolymerized cortical actin and an elevated Lyn kinase activity in erythrocytes from ChAc patients were identified. How this contributes to the mechanism of neurodegeneration is still unknown. To gain insight into the pathophysiology, we established a ChAc patient-derived induced pluripotent stem cell model and an efficient differentiation protocol providing a large population of human striatal medium spiny neurons (MSNs), the main target of neurodegeneration in ChAc...
November 23, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27858372/severe-respiratory-acidosis-in-status-epilepticus-as-a-possible-etiology-of-sudden-death-in-lesch-nyhan-disease-a-case-report-and-review-of-the-literature
#20
Alison Christy, William Nyhan, Jenny Wilson
INTRODUCTION: Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism, associated with self-mutilation, dystonia, and chorea. Seizures are uncommon in LND. Patients with LND are at risk for sudden and unexpected death. The etiology of this is unknown, but appears to occur from a respiratory process. We propose that respiratory failure secondary to subclinical seizure may lead to sudden death in these patients. CASE: We report a case of an 11-year-old boy with LND who had two episodes of nocturnal gasping...
November 18, 2016: JIMD Reports
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