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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
#1
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
#2
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
#3
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
#4
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
#5
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...
November 30, 2016: 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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27829718/a-rare-case-of-movement-disorder-in-intensive-care-unit
#9
Vikas Sikri, Alok Jain, Vinay Singhal, Amit Gupta
Hemichorea-hemiballismus syndrome (HCHB represents a peculiar form of hyperkinetic movement disorder with varying degrees of chorea and/or ballistic movements on one side of body. The patients are conscious of their environment but unable to control the movements. HCHB is a rare occurrence in acute stroke patients. Patients with sub-cortical strokes are more prone to develop movement disorders than with cortical stroke. We report one such interesting case here posing difficulties in management and intensive care of the patient...
October 2016: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/27827297/movement-disorders-associated-with-hemochromatosis
#10
Niraj Kumar, Philippe Rizek, Bekim Sadikovic, Paul C Adams, Mandar Jog
BACKGROUND: Hereditary hemochromatosis (HH) is a genetic disorder causing pathological iron deposition and functional impairment of various organs, predominantly the liver. We assessed patients with HH for the presence of movement disorders. METHODS: We reviewed the charts of 616 patients with HH who attended hemochromatosis clinic at London Health Sciences Centre, London, ON, Canada, from 1988 to 2015. RESULTS: We found three HH patients with movement disorders, without any other major systemic manifestation...
November 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27819860/glucose-hypermetabolism-in-contralateral-basal-ganglia-demonstrated-by-serial-fdg-pet-ct-scans-in-a-patient-with-sle-chorea
#11
Na Niu, Ruixue Cui
We reported a 24-year-old woman who developed a movement disorder of mouth and limbs during systemic lupus erythematosus. Brain MRI did not find any abnormalities. Increased FDG uptake in basal ganglia was found using FDG PET/CT brain scan. The symptoms remitted after therapy and the activities of the original hypermetabolic regions were down to normal in the follow-up FDG PET/CT scan. This case implies that the pathophysiology of chorea in systemic lupus erythematosus is different from that of chorea in other diseases, such as Huntington disease and chorea-acanthocytosis, in which hypometabolic basal ganglia was found...
January 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27819145/dopamine-depleters-in-the-treatment-of-hyperkinetic-movement-disorders
#12
Joseph Jankovic
Abnormal involuntary movements often improve in response to anti-dopaminergic drugs. In contrast to classic neuroleptics that block dopamine receptors, drugs that deplete presynaptic dopamine by blocking vesicular monoamine transporter type 2 (VMAT2) seem to be safer and have little or no risk of tardive dyskinesia. This is one reason why there has been a recent emergence of novel VMAT2 inhibitors. Areas Covered: Since the approval of tetrabenazine, the classic VMAT2 inhibitor, in the treatment of chorea associated with Huntington disease (HD), other VMAT2 inhibitors (e...
November 6, 2016: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/27815733/acute-rheumatic-fever-outbreak-in-southern-central-european-country
#13
Urška Kočevar, Nataša Toplak, Blaž Kosmač, Luka Kopač, Samo Vesel, Natalija Krajnc, Matjaž Homan, Rina Rus, Tadej Avčin
: A decline in the incidence of acute rheumatic fever (ARF) in developed countries over the past century can be attributed to the improved public hygiene and to widespread use of antibiotics. ARF seemed to be a rare disease in southern central European country, Slovenia, up to 2010 when we noticed an increase in the number of patients with ARF. In order to assess the current incidence of ARF, we performed a retrospective study of all patients with ARF treated at the University Children's Hospital Ljubljana from January 2008 until the end of December 2014...
November 4, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27806876/chorea-and-parkinsonism-associated-with-autoantibodies-to-iglon5-and-responsive-to-immunotherapy
#14
Ren Haitao, Yang Yingmai, Huang Yan, Han Fei, Lv Xia, Hao Honglin, Liu Chaiyan, Winfried Stöcker, Cui Liying, Guan Hongzhi
Encephalopathy associated with autoantibodies to IgLON5 is a novel syndrome characterized by a distinct sleep disorder and brain-stem involvement. Since the initial description of this encephalopathy in 2014, only a few additional patients have been reported (Simabukuro et al., 2015). In this paper, we report a new case of anti-IgLON5 antibodies with major symptoms of chorea and parkinsonism, and responsive to immunotherapy.
November 15, 2016: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/27795769/-epilepsy-revealing-chorea-acanthocytosis-about-a-case
#15
Nawfal Doghmi, Abdelghafour Elkoundi, Amine Meskine, Aziz Benakrout, Abdelouahed Baite, Cherqui Haimeur
Chorea-acanthocytosis (ChAc) is an extremely rare autosomal recessive disorder caused by mutations in the VSP13A gene on chromosome 9q21. It is characterized by neurological symptoms, psychiatric manifestations and multisystem involvement resulting in myopathy, axonal neuropathy and presence of spiculated red blood cells or acanthocytes. Rarely, epilepsy may be the early symptom in these patients. This can lead to serious delays in diagnosis. We here report the case of a patient with this disease who had seizures several years before the onset of typical manifestations...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27767206/reliability-and-discriminant-validity-of-ataxia-rating-scales-in-early-onset-ataxia
#16
Rick Brandsma, Tjitske F Lawerman, Marieke J Kuiper, Roelineke J Lunsing, Huibert Burger, Deborah A Sival
AIM: To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD: In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation coefficient [ICC]) and discriminant validity of ataxia rating scales (International Cooperative Ataxia Rating Scale [ICARS], Scale for Assessment and Rating of Ataxia [SARA], and Brief Ataxia Rating Scale [BARS])...
October 21, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27749952/deutetrabenazine-not-a-revolution-but-welcome-evolution-for-treating-chorea-in-huntington-disease
#17
Ralf Reilmann
No abstract text is available yet for this article.
October 17, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27743838/deep-brain-stimulation-in-rare-inherited-dystonias
#18
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
November 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27742708/a-new-molecular-link-between-defective-autophagy-and-erythroid-abnormalities-in-chorea-acanthocytosis
#19
Francesca Lupo, Elena Tibaldi, Alessandro Matte, Alok K Sharma, Anna Maria Brunati, Seth L Alper, Carlo Zancanaro, Donatella Benati, Angela Siciliano, Mariarita Bertoldi, Francesca Zonti, Alexander Storch, Ruth H Walker, Adrian Danek, Benedikt Bader, Andreas Hermann, Lucia De Franceschi
Chorea-acanthocytosis is one of the hereditary neurodegenerative disorders known as the neuroacanthocytoses. Chorea-acanthocytosis is characterized by circulating acanthocytes deficient in chorein, a protein of unknown function. We report here for the first time that chorea-acanthocytosis red-cells are characterized by impaired autophagy, with cytoplasmic accumulation of active Lyn and of autophagy-related proteins Ulk1, Atg7. In chorea-acanthocytosis erythrocytes, active Lyn is sequestered by HSP90-70 to form high-molecular-weight complexes that stabilize and protect Lyn from its proteasomal degradation, contributing to toxic Lyn accumulation...
October 14, 2016: Blood
https://www.readbyqxmd.com/read/27740685/factors-related-to-genetic-testing-in-adults-at-risk-for-huntington-disease-the-prospective-huntington-at-risk-observational-study-pharos
#20
Kimberly A Quaid, Shirley W Eberly, Elise Kayson-Rubin, David Oakes, Ira Shoulson
Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a CAG triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study of 1001 individuals at risk for HD who had not been previously tested for HD and who had no plans to do so. In this cohort, 104 (10%) individuals changed their minds and chose to be tested during the course of the study but outside of the study protocol. Baseline behavioral scores, especially apathy, were more strongly associated with later genetic testing than motor and chorea scores, particularly among subjects with expanded CAG repeat length...
October 14, 2016: Clinical Genetics
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