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https://www.readbyqxmd.com/read/29764825/sudden-hemichorea-and-frontal-lobe-syndrome-a-rare-presentation-of-unbalanced-polycythaemia-vera
#1
Carmen García-Cabo, Jessica Fernandez-Dominguez, Valentín Mateos
Polycythaemia vera (PV) is an haematological neoplasm that frequently presents neurological symptoms. However, chorea is a rare complication of this disease, occurring in less than 5% of the patients. Cognitive impairment related to PV unbalanced is also a rare complication, and it can improve with proper treatment. We present a 96-year-old-man with acute-onset hemichorea and frontal lobe syndrome with no vascular pathology in the basal ganglia or frontal region. A clear relationship was observed between the onset of involuntary movements and the cognitive impairment and worsening of haematological parameters in the patient...
May 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29763510/trihexyphenidyl-for-dystonia-in-cerebral-palsy
#2
REVIEW
Adrienne R Harvey, Louise B Baker, Dinah Susan Reddihough, Adam Scheinberg, Katrina Williams
BACKGROUND: Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. The involuntary contractions are often very painful and distressing and cause significant limitations to activity and participation...
May 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29752031/new-pathogenic-mutation-of-chorea-acanthocytosis
#3
A Garrido-Fernández, S Santos-Lasaosa, E Bellosta-Diago, S Sáchez-Valiente
No abstract text is available yet for this article.
May 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29750428/understanding-how-chorea-affects-health-related-quality-of-life-in-huntington-disease-an-online-survey-of-patients-and-caregivers-in-the-united-states
#4
Eileen Mack Thorley, Ravi G Iyer, Paul Wicks, Chris Curran, Sanjay K Gandhi, Victor Abler, Karen E Anderson, Noelle E Carlozzi
BACKGROUND: Chorea is the hallmark motor feature of Huntington disease (HD) and can negatively impact daily functioning and health-related quality of life (HRQoL). OBJECTIVE: The objective of this study was to evaluate how chorea impacts HRQoL and overall functioning among HD patients participating on the PatientsLikeMe website ( www.PatientsLikeMe.com ). METHODS: A survey was provided to HD participants and/or their caregivers via PatientsLikeMe (9 February 2017-22 March 2017), comprising multiple-choice and open-ended questions designed to assess how chorea impacts HRQoL and overall functioning, and the importance of treating chorea...
May 11, 2018: Patient
https://www.readbyqxmd.com/read/29737569/huntington-s-disease-current-and-future-therapeutic-prospects
#5
REVIEW
Karl Kieburtz, Ralf Reilmann, C Warren Olanow
Huntington's disease is a progressive neurodegenerative disorder for which therapies are woefully inadequate and do not prevent inevitable progression. Currently approved therapies are primarily aimed at treating chorea, but do not address the more clinically meaningful motor, behavioral, and cognitive features of the disease. However, there are a number of promising new therapies that are currently being studied in the laboratory, and in the clinic. This article will review the wide variety of therapies currently being tested, the advances in clinical trials and end points, and the many potentially relevant new targets...
May 8, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#6
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29735116/inherited-and-acquired-choreas
#7
Claudio M de Gusmao, Jeff L Waugh
Chorea is a symptom of a broad array of genetic, structural, and metabolic disorders. While chorea can result from systemic illness and damage to diverse brain structures, injury to the basal ganglia, especially the putamen or globus pallidus, appears to be a uniting features of these diverse neuropathologies. The timing of onset, rate of progression, and the associated neurological or systemic symptoms can often narrow the differential diagnosis to a few disorders. Recognizing the correct etiology for childhood chorea is critical, as numerous disorders in this category are potentially curable, or are remediable, with early treatment...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29722054/pathoarchitectonics-of-the-cerebral-cortex-in-chorea-acanthocytosis-and-hd
#8
Jia Liu, Helmut Heinsen, Lea T Grinberg, Eduardo Alho, Edson Amaro, Carlos A Pasqualucci, Udo Rüb, Kay Seidel, Wilfred den Dunnen, Thomas Arzberger, Christoph Schmitz, Maren C Kiessling, Benedikt Bader, Adrian Danek
AIMS: Quantitative estimation of cortical neurone loss in cases with chorea-acanthocytosis and its impact on laminar composition METHODS: We used unbiased stereological tools to estimate the degree of cortical pathology in serial gallocyanin-stained brain sections through the complete hemispheres of three subjects with genetically verified chorea-acanthocytosis (ChAc) and a range of disease durations. We compared these results with our previous data of five Huntington's disease (HD) and five control cases...
May 2, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29701436/-abnormal-movements-and-internal-medicine-pathologies
#9
Joseph Ghika
Hyperkinesias can be revelaed by an internal medicine pathology. An acute chorea can be found in association with non ketotic hypergycemia, lupus, antiphospholipid syndrome, endocrinopathies, pregnancy or oral contraceptive initiation, or psychostimulant medication. Acute dystonic syndromes are found in association with the initiation of an old generation neuroleptic, metoclopramide, oral contraceptive and pregnancy. It should be differentiated from hyper- or hypo-calcémie tetany. Tremors are found in association with many drugs and hormones...
April 25, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29701435/-movement-disorders-emergencies
#10
Pierre R Burkhard, Judit Horvath, Vanessa Fleury, André Zacharia, Julien F Bally, Matthieu Bereau, Walid Bouthour, Christian Lüscher, Paul Krack
Unlike most basal ganglia disorders, which usually progress slowly and relentlessly, a number of movement disorders may develop as acute or subacute conditions. Their occurrence commonly prompts patients to rush into the emergency room. A proper diagnosis is not always straightforward and requires a detailed analysis of the movement disorder phenomenology and a thorough medication screening, as many of these acute situations may be iatrogenic and drug-related. An accurate identification of the problem may enable an effective management and an appropriate therapy...
April 25, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29687155/takayasu-arteritis-in-childhood-misdiagnoses-at-disease-onset-and-associated-diseases
#11
Gleice Clemente, Clovis A Silva, Silvana B Sacchetti, Virginia P L Ferriani, Sheila K Oliveira, Flavio Sztajnbok, Blanca E R G Bica, André Cavalcanti, Teresa Robazzi, Marcia Bandeira, Maria Teresa Terreri
Juvenile-Takayasu arteritis (j-TA) is a difficult diagnosis and some patients develop uncommon manifestations and associated diseases that may contribute to the delayed diagnosis. Our aim was to identify the misdiagnoses, the associated diseases and the atypical manifestations observed in a j-TA Brazilian multicentre study. 71 children and adolescents who met the classification criteria for j-TA were included. The misdiagnoses, the associated diseases and the atypical manifestations were evaluated. 19 (26.8%) patients had misdiagnoses...
April 23, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29686441/rheumatic-fever-new-diagnostic-criteria
#12
REVIEW
Izabela Szczygielska, Elżbieta Hernik, Beata Kołodziejczyk, Agnieszka Gazda, Maria Maślińska, Piotr Gietka
Rheumatic fever (RF) is an autoimmune disease associated with group A β-hemolytic streptococcal infection, in the course of which the patient develops carditis, arthritis, chorea, subcutaneous nodules and erythema marginatum. Rheumatic fever diagnosis is based on the Jones criteria, developed in 1944, then revised twice by the American Heart Association (AHA), in 1992 and recently in 2015. The last revision of the Jones criteria consists mainly in the supplementation of the major criteria with echocardiographic examination, the introduction of a concept of subclinical carditis and the isolation of low, medium and high risk populations among the patients...
2018: Reumatologia
https://www.readbyqxmd.com/read/29684586/targeted-biochemical-profiling-of-brain-from-huntington-s-disease-patients-reveals-novel-metabolic-pathways-of-interest
#13
Stewart F Graham, Xiaobei Pan, Ali Yilmaz, Shirin Macias, Andrew Robinson, David Mann, Brian D Green
Huntington's disease (HD) is a devastating, progressive neurodegenerative disease with a distinct phenotype characterized by chorea and dystonia, incoordination, cognitive decline and behavioral difficulties. The precise mechanisms of HD progression are poorly understood; however, it is known that there is an expansion of the trinucleotide cytosine-guanosine-guanine (CAG) repeat in the Huntingtin gene. Herein DI/LC-MS/MS was used to accurately identify and quantify 185 metabolites in post mortem frontal lobe and striatum from HD patients and healthy control cases...
April 20, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29670796/huntington-s-disease-in-a-patient-misdiagnosed-as-conversion-disorder
#14
João Machado Nogueira, Ana Margarida Franco, Susana Mendes, Anabela Valadas, Cristina Semedo, Gustavo Jesus
Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations...
2018: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/29667946/deutetrabenazine-austedo-for-huntington-s-chorea-and-tardive-dyskinesia
#15
(no author information available yet)
No abstract text is available yet for this article.
April 23, 2018: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/29666090/rare-case-of-chorea-hyperglycaemia-basal-ganglia-c-h-bg-syndrome
#16
Sajjad Ahmad, Priya Mohan Babu, Lavanya Shenbagaraj, Lindsay George
An 83-year-old woman presented with acute-onset haemichorea and haemiballism particularly affecting the left side of the body. She was known to have type 2 diabetes, which was poorly controlled with sitagliptin. She was hyperglycaemic but not ketotic or acidotic. After she was started on insulin and good glycaemic control was achieved, her abnormal movements dramatically improved. MRI of the brain showed a T1-weighted hyperintense lesion on the right basal ganglia, which is typical of chorea-hyperglycaemia-basal ganglia syndrome...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29625811/further-characterization-of-capos-caos-syndrome-with-the-glu818lys-mutation-in-the-atp1a3-gene-a-case-report
#17
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Shinichi Hirose, Rika Hiraiwa, Yoshihiro Maegaki, Kousaku Ohno
A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29621620/benign-hereditary-chorea-and-deletions-outside-nkx2-1-what-s-the-role-of-mbip
#18
Federica Invernizzi, Giovanna Zorzi, Andrea Legati, Giovanni Coppola, Pio D'Adamo, Nardo Nardocci, Barbara Garavaglia, Daniele Ghezzi
Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrome. We report on a three-generation Italian family, with 6 subjects presenting BHC and harboring a genomic deletion adjacent to NKX2-1 and including the gene MBIP, recently proposed to be relevant for the pathogenesis of brain-lung-thyroid syndrome...
April 2, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29620515/progress-in-the-diagnosis-and-management-of-chorea-acanthocytosis
#19
Yang Liu, Zi-Yuan Liu, Xin-Hua Wan, Yi Guo
Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of acanthocytes and neurological disorders. It is thought to be caused by VPS13A mutations. Characteristic movement disorders in ChAc is choreiform movements affecting both trunk and extremities and prominent orolingual dyskinesia is pathognomonic. Acanthocytosis in peripheral blood smear, elevated serum creatine kinase and atrophy of heads of caudate nuclei and dilation of the anterior horn of the lateral ventricles in magnetic resonance imaging could assist the diagnosis of ChAc...
March 30, 2018: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
https://www.readbyqxmd.com/read/29620082/brain-sagging-syndrome-presenting-with-chorea
#20
Eoin Mulroy, James Caldwell, Neil E Anderson, Barry Snow
No abstract text is available yet for this article.
October 2017: Neurology. Clinical Practice
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