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https://www.readbyqxmd.com/read/28527175/chorea-and-orofaciolingual-dystonia-in-a-40-year-old-male
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28396959/glucose-transportation-in-the-brain-and-its-impairment-in-huntington-disease-one-more-shade-of-the-energetic-metabolism-failure
#14
REVIEW
Veronica Morea, Eris Bidollari, Gianni Colotti, Annarita Fiorillo, Jessica Rosati, Lidia De Filippis, Ferdinando Squitieri, Andrea Ilari
Huntington's disease (HD) or Huntington's chorea is the most common inherited, dominantly transmitted, neurodegenerative disorder. It is caused by increased CAG repeats number in the gene coding for huntingtin (Htt) and characterized by motor, behaviour and psychiatric symptoms, ultimately leading to death. HD patients also exhibit alterations in glucose and energetic metabolism, which result in pronounced weight loss despite sustained calorie intake. Glucose metabolism decreases in the striatum of all the subjects with mutated Htt, but affects symptom presentation only when it drops below a specific threshold...
April 10, 2017: Amino Acids
https://www.readbyqxmd.com/read/28387387/deutetrabenazine-treatment-of-hyperkinetic-aspects-of-huntington-s-disease-tardive-dyskinesia-and-tourette-syndrome
#15
D M Paton
Deutetrabenazine is a derivative of tetrabenazine in which two trideuteromethoxy groups substitute two methoxy groups. The active metabolites of deutetrabenazine have a longer half-life than those of tetrabenazine, together with a greater overall absorption. However, the peak plasma concentrations are lower. Because of these pharmacokinetic differences, deutetrabenazine can be given twice daily, thus improving compliance. The lower peak concentrations may account for a lower incidence of some unwanted adverse effects...
February 2017: Drugs of Today
https://www.readbyqxmd.com/read/28382107/tetrabenazine-in-treatment-of-hyperkinetic-movement-disorders-an-observational-study
#16
Rita Miguel, Marcelo D Mendonça, Raquel Barbosa, Filipa Ladeira, Tânia Lampreia, José Vale, Paulo Bugalho
BACKGROUND: Tetrabenazine (TBZ) is commonly used in hyperkinetic movement disorders. In this retrospective study, we aimed to assess the TBZ effectiveness and adverse events (AEs) in Huntington disease (HD), vascular chorea, tics, dystonia, tardive oromandibular (OM) dyskinesia and other tardive syndromes (TS). METHODS: Qualitative analysis of clinical response was used to estimate TBZ effectiveness. TBZ-associated AE frequency and subsequent discontinuation rate were used to estimate tolerability; the tolerability profile was measured through the TBZ minimal dose and exposure time required to elicit AEs...
February 2017: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/28381508/clinical-manifestations-of-the-anti-iglon5-disease
#17
Carles Gaig, Francesc Graus, Yarko Compta, Birgit Högl, Luis Bataller, Norbert Brüggemann, Caroline Giordana, Anna Heidbreder, Katya Kotschet, Jan Lewerenz, Stefan Macher, Maria J Martí, Teresa Montojo, Jesus Pérez-Pérez, Inmaculada Puertas, Caspar Seitz, Mateus Simabukuro, Nieves Téllez, Klaus-Peter Wandinger, Alex Iranzo, Guadalupe Ercilla, Lidia Sabater, Joan Santamaría, Josep Dalmau
OBJECTIVE: To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in the anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, and IgLON5 antibodies. METHODS: This was a retrospective clinical analysis of 22 patients. The IgG subclass was determined using reported techniques. RESULTS: Patients' median age was 64 years (range 46-83). Symptoms that led to initial consultation included sleep problems (8 patients; 36%), gait abnormalities (8; 36%), bulbar dysfunction (3; 14%), chorea (2; 9%), and cognitive decline (1; 5%)...
May 2, 2017: Neurology
https://www.readbyqxmd.com/read/28375089/mri-and-clinical-manifestations-of-delayed-encephalopathy-after-carbon-monoxide-poisoning
#18
Xiahong Wang, Zhenyu Li, Jacqueline Berglass, Wenlong He, Jianmin Zhao, Min Zhang, Chongyang Gao, Caixia Zhang, Huimin Zhang, Xuewei Yi
To explore the relationship between the clinical manifestations and functional magnetic resonance images of delayed encephalopathy after carbon monoxide intoxication. Six patients received the MRI were diagnosed with delayed encephalopathy after carbon monoxide (CO) poisoning. Clinical manifestations were observed in each patient. MRI revealed multiple lesions. The majority of the lesions were located in the globus pallidus, sub cortical white matter, and basal ganglia. The cognitive injury, akinetic mutism, fecal and uroclepsia, forced crying, forced laughing and extra pyramidal syndromes such as chorea and parkinsonism were manifested in clinic...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28372903/anti-yo-chorea-and-hemiballismus-a-case-report
#19
Lilach Goldstein, Ruth Djaldetti, Felix Benninger
68-year-old female presented with involuntary movements. MRI was normal. Cerebrospinal fluid analysis was normal. whole body CT and biopsy confirmed diagnosis of metastatic adenocarnimoa. The autoimmune panel was positive for anti-Yo antibodies.
March 31, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28361170/bilateral-chorea-ballism-and-diabetic-ketoacidosis-as-the-initial-presentation-of-a-case-with-maternally-inherited-diabetes-and-deafness
#20
Tzu-Hsiang Ko, Hsun-Hua Lee, An-Tsz Hsieh, Chaur-Jong Hu, Chih-Chung Chen
No abstract text is available yet for this article.
March 30, 2017: Acta Diabetologica
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