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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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%)...
April 5, 2017: Neurology
https://www.readbyqxmd.com/read/28375089/mri-and-clinical-manifestations-of-delayed-encephalopathy-after-carbon-monoxide-poisoning
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28339400/a-systematic-review-of-the-huntington-disease-like-2-phenotype
#10
David G Anderson, Ruth H Walker, Myles Connor, Jonathan Carr, Russell L Margolis, Amanda Krause
BACKGROUND: Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2. OBJECTIVE: The objective was to determine the similarities and differences between HD and HDL2 by establishing the clinical phenotype of HDL2 with the published cases...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28334785/amino-acid-substitution-equivalent-to-human-chorea-acanthocytosis-i2771r-in-yeast-vps13-protein-affects-its-binding-to-phosphatidylinositol-3-phosphate
#11
Weronika Rzepnikowska, Krzysztof Flis, Joanna Kaminska, Marcin Grynberg, Agnieszka Urbanek, Kathryn R Ayscough, Teresa Zoladek
The rare human disorder chorea-acanthocytosis (ChAc) is caused by mutations in hVPS13A gene. The hVps13A protein interacts with actin and regulates the level of phosphatidylinositol 4-phosphate (PI4P) in the membranes of neuronal cells. Yeast Vps13 is involved in vacuolar protein transport and, like hVps13A, participates in PI4P metabolism. Vps13 proteins are conserved in eukaryotes, but their molecular function remains unknown. One of the mutations found in ChAc patients causes amino acids substitution I2771R which affects the localization of hVps13A in skeletal muscles...
April 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28324302/huntington-s-disease-update-on-treatments
#12
REVIEW
Kara J Wyant, Andrew J Ridder, Praveen Dayalu
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, ending in death. Despite the discovery of the underlying genetic mutation more than 20 years ago, treatment remains focused on symptomatic management. Chorea, the most recognizable symptom, responds to medication that reduces dopaminergic neurotransmission. Psychiatric symptoms such as depression and anxiety may also respond well to symptomatic therapies...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28301811/drug-induced-endovesiculation-of-erythrocytes-is-modulated-by-the-dynamics-in-the-cytoskeleton-membrane-interaction
#13
Walter Oberwagner, Thomas Sauer, Andreas Hermann, Rainer Prohaska, Ernst W Müllner, Ulrich Salzer
Recent studies on erythrocyte membrane fluctuations revealed that the erythrocyte cytoskeleton actively modulates its membrane association thereby regulating crucial membrane properties. Cationic amphiphilic drugs like chlorpromazine are known to induce a cup-like cell shape and vesicle formation into the cell interior, effectors of this process, however, are largely unknown. Using flow cytometry, this study explored conditions that influence endovesiculation induced by chlorpromazine. We found that inhibitors of membrane fluctuations, like ATP depletion, vanadate or fluoride, also inhibited endovesiculation whereas activation of PKC, known to decrease cytoskeleton association and increase membrane fluctuations, also enhanced endovesicle formation...
March 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28286255/a-further-case-of-brain-lung-thyroid-syndrome-with-deletion-proximal-to-nkx2-1
#14
Mira Kharbanda, Pia Hermanns, Jeremy Jones, Joachim Pohlenz, Iain Horrocks, Malcolm Donaldson
Brain-lung-thyroid syndrome (OMIM #610978) is associated with mutations in the NK2 homeobox 1 (NKX2-1) gene, a transcription factor important in development. 50% of patients are affected by the full triad, comprising congenital hypothyroidism, benign hereditary chorea and infant respiratory distress syndrome. Four cases have previously been reported where a patient has features consistent with brain-lung-thyroid syndrome and a chromosome 14q13 deletion adjacent to, but not disrupting, NKX2-1. We present a patient who has a phenotype consistent with brain-lung-thyroid syndrome, featuring congenital hypothyroidism and choreoathetoid movements with gross motor delay...
March 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28268226/hyperckemia-instead-of-hyperkalemia-in-chorea-acanthocytosis
#15
Adrian Danek, Ruth H Walker
No abstract text is available yet for this article.
March 7, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28265459/indirect-tolerability-comparison-of-deutetrabenazine-and-tetrabenazine-for-huntington-disease
#16
Daniel O Claassen, Benjamin Carroll, Lisa M De Boer, Eric Wu, Rajeev Ayyagari, Sanjay Gandhi, David Stamler
BACKGROUND: Vesicular monoamine transporter 2 (VMAT2) inhibitors can improve hyperkinetic movements, and are effective treatment options for chorea of Huntington disease (HD). Tetrabenazine was assessed for treating chorea in the TETRA-HD trial, and while efficacious, there are tolerability concerns possibly due to its pharmacokinetic properties. Deutetrabenazine is a novel VMAT2 inhibitor that contains deuterium, which extends active metabolite half-lives and minimizes drug concentration fluctuations...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28258281/radiological-findings-of-two-sisters-with-aceruloplasminemia-presenting-with-chorea
#17
H K Kim, C S Ki, Y J Kim, M S Lee
No abstract text is available yet for this article.
March 3, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28224046/eighth-international-chorea-acanthocytosis-symposium-summary-of-workshop-discussion-and-action-points
#18
Samuel S Pappas, Juan Bonifacino, Adrian Danek, William T Dauer, Mithu De, Lucia De Franceschi, Gilbert DiPaolo, Robert Fuller, Volker Haucke, Andreas Hermann, Benoit Kornmann, Bernhard Landwehrmeyer, Johannes Levin, Aaron M Neiman, Dobrila D Rudnicki, Ody Sibon, Antonio Velayos-Baeza, Jan J Vonk, Ruth H Walker, Lois S Weisman, Roger L Albin
Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on molecular mechanisms driving ChAc pathophysiology. Accompanying the meeting, members of the neuroacanthocytosis research community and other invited scientists met in a workshop to discuss the current understanding and next steps needed to better understand ChAc pathogenesis...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#19
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28194132/molecular-imaging-markers-to-track-huntington-s-disease-pathology
#20
REVIEW
Heather Wilson, Rosa De Micco, Flavia Niccolini, Marios Politis
Huntington's disease (HD) is a progressive, monogenic dominant neurodegenerative disorder caused by repeat expansion mutation in the huntingtin gene. The accumulation of mutant huntingtin protein, forming intranuclear inclusions, subsequently leads to degeneration of medium spiny neurons in the striatum and cortical areas. Genetic testing can identify HD gene carriers before individuals develop overt cognitive, psychiatric, and chorea symptoms. Thus, HD gene carriers can be studied in premanifest stages to understand and track the evolution of HD pathology...
2017: Frontiers in Neurology
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