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https://www.readbyqxmd.com/read/28645789/disruption-of-gaba-a-mediated-intracortical-inhibition-in-patients-with-chorea-acanthocytosis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
May 27, 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
#8
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
#9
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
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#10
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28504778/chorea-in-the-older-adult-a-full-blooded-answer
#11
A J Degnan, E Capek, A Bowman
Chorea is a severe, distressing, movement disorder characterised by excessive, purposeless movements of the limbs, head and orofacial muscles in a generalised and irregularly-timed fashion. In young patients, neurodegenerative (Huntington's disease) and metabolic (Wilson's disease) aetiologies are most common. In the older population, the differential widens to include genetic, structural, metabolic and pharmacological causes. We present a case of an older man who developed progressive choreoathetosis secondary to polycythaemia vera which resolved with serial venesections...
December 2016: Journal of the Royal College of Physicians of Edinburgh
https://www.readbyqxmd.com/read/28461817/anti-ma2-receptor-encephalitis-mimicking-huntington-chorea
#12
Masoud Etemadifar, Mehri Salari, Hossein Badiee, Omid Mirmosayyeb
No abstract text is available yet for this article.
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28446873/novel-vps13a-gene-mutations-identified-in-patients-diagnosed-with-chorea-acanthocytosis-chac-case-presentation-and-literature-review
#13
Yan Shen, Xiaoming Liu, Xi Long, Chao Han, Fang Wan, Wenliang Fan, Xingfang Guo, Kai Ma, Shiyi Guo, Luxi Wang, Yun Xia, Ling Liu, Jinsha Huang, Zhicheng Lin, Nian Xiong, Tao Wang
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators and acanthocytes detection in peripheral blood smear. Vacuolar protein sorting 13A (VPS13A) gene mutations have been proven to be genetically responsible for the pathogenesis of ChAc. Herein, based on the typical clinical symptoms and neuroimaging features, we present two suspected ChAc cases which are further genetically confirmed by four novel VPS13A gene mutations...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28442302/facial-twitches-in-adcy5-associated-disease-myokymia-or-myoclonus-an-electromyography-study
#14
Sinem Tunc, Norbert Brüggemann, Magdalena K Baaske, Corinna Hartmann, Karen Grütz, Ana Westenberger, Christine Klein, Alexander Münchau, Tobias Bäumer
OBJECTIVE: A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia. METHODS: Five patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena. RESULTS: Electromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100-300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings...
April 20, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28442182/a-retrospective-study-acute-rheumatic-fever-and-post-streptococcal-reactive-arthritis-in-japan
#15
Satoshi Sato, Yoji Uejima, Eisuke Suganuma, Tadamasa Takano, Yutaka Kawano
BACKGROUND: Acute rheumatic fever (ARF) and post-streptococcal reactive arthritis (PSRA) are immune-mediated consequences of group A streptococcal pharyngitis. ARF has declined in developed nations. No prevalence survey of PSRA has been conducted. This study evaluated the incidence and characteristics of ARF and PSRA in Japanese children. METHODS: From 2010 to 2015, ARF and PSRA were evaluated using clinical data retrospectively collected by chart review from 528 hospitals...
April 22, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28433105/symptomatic-treatment-of-neurologic-symptoms-in-wilson-disease
#16
Tomasz Litwin, Petr Dušek, Anna Członkowska
Wilson disease (WD) is a potentially treatable neurodegenerative disorder. In the majority of cases, treatment with drugs that induce a negative copper balance (usually chelators or zinc salts) leads to improvements in liver function and neurologic signs. However, some patients show severe neurologic symptoms at diagnosis, such as tremor, dystonia, parkinsonism, and chorea. In this patient group, some neurologic deficits may persist despite adequate treatment, and further neurologic deterioration may be observed after treatment initiation...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433096/wilson-disease-neurologic-features
#17
Anna Członkowska, Tomasz Litwin, Grzegorz Chabik
Wilson disease (WD) is a neurodegenerative disorder, which presents as a spectrum of neurologic manifestations that includes tremor, bradykinesia, rigidity, dystonia, chorea, dysarthria, and dysphagia, together with a combination of neurologic symptoms that can easily lead to misdiagnosis. An early diagnosis of WD, and appropriate anticopper treatment, usually leads to a marked improvement in patient health. Conversely, delayed diagnosis can result in persistent pathology, which, left untreated, can ultimately prove lethal...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28431612/xeroderma-pigmentosum-complementation-group-f-a-rare-cause-of-cerebellar-ataxia-with-chorea
#18
G Carré, C Marelli, M Anheim, C Geny, M Renaud, H R Rezvani, M Koenig, C Guissart, C Tranchant
The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#19
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28398599/hippocampal-sclerosis-and-mesial-temporal-lobe-epilepsy-in-chorea-acanthocytosis-a-case-with-clinical-pathologic-and-genetic-evaluation
#20
Karin Mente, Sun A Kim, Christopher Grunseich, Marco M Hefti, John F Crary, Adrian Danek, Barbara I Karp, Ruth H Walker
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurodegenerative disease associated with mutations in VPS13A that encodes the protein chorein. ChAc is characterized by progressive chorea, dystonia, and psychiatric symptoms, developing in young adulthood, often with acanthocytosis in peripheral blood. Tongue protrusion, or feeding dystonia, is common, as are seizures and neuropathy [1]. On neuropathology, there is basal ganglia atrophy, neuronal loss, and gliosis, especially in the caudate nucleus [2]...
April 11, 2017: Neuropathology and Applied Neurobiology
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