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https://www.readbyqxmd.com/read/28012953/new-insights-in-the-neurological-phenotype-of-aceruloplasminemia-in-caucasian-patients
#1
Lena H P Vroegindeweij, Janneke G Langendonk, Mirjam Langeveld, Mels Hoogendoorn, Anneke J A Kievit, Domenico Di Raimondo, J H Paul Wilson, Agnita J W Boon
INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline...
December 15, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27992533/grey-matter-microstructural-integrity-alterations-in-blepharospasm-are-partially-reversed-by-botulinum-neurotoxin-therapy
#2
Hanganu Alexandru, Muthuraman Muthuraman, Venkata Chaitanya Chirumamilla, Nabin Koirala, Burcu Paktas, Günther Deuschl, Kirsten E Zeuner, Sergiu Groppa
OBJECTIVE: Benign Essential Blepharospasm (BEB) and hemifacial spasm (HFS) are the most common hyperkinetic movement disorders of facial muscles. Although similar in clinical presentation different pathophysiological mechanisms are assumed. Botulinum Neurotoxin (BoNT) is a standard evidence-based treatment for both conditions. In this study we aimed to assess grey matter microstructural differences between these two groups of patients and compared them with healthy controls. In patients we furthermore tracked the longitudinal morphometric changes associated with BoNT therapy...
2016: PloS One
https://www.readbyqxmd.com/read/27978768/movement-disorders-and-cerebrovascular-diseases-from-pathophysiology-to-treatment
#3
Stefano Caproni, Carlo Colosimo
Cerebrovascular diseases are one of the most common causes of secondary movement disorders. Hypokinetic or hyperkinetic movement disorders may occur after an ischemic or hemorrhagic stroke, either immediately or thereafter. Such disorders are also known to be caused by diffuse leukoaraiosis, vascular malformations and dural fistulas in the basal ganglia or other brain regions. Area covered: The aim of this review was to describe movement disorders secondary to cerebrovascular diseases, and highlight their pivotal pathophysiological aspects, clinical features, diagnostic criteria and therapeutic options...
December 16, 2016: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/27960157/chorein-sensitive-orai1-expression-and-store-operated-ca2-entry-in-rhabdomyosarcoma-cells
#4
Willi Yu, Sabina Honisch, Sebastian Schmidt, Jing Yan, Evi Schmid, Saad Alkahtani, Abdullah A AlKahtane, Saud Alarifi, Christos Stournaras, Florian Lang
BACKGROUND: Chorein, a protein encoded by VPS13A (vacuolar protein sorting-associated protein 13A), is defective in chorea acanthocytosis, a rare disease characterized by acanthocytosis of red blood cells and neuronal cell death with progressive hyperkinetic movement disorder, cognitive dysfunction, behavioral abnormalities and chronic hyperkalemia. Chorein is highly expressed in ZF rhabdomyosarcoma cells and counteracts apoptosis of those cells. Chorein is effective in part by interacting with and fostering stimulation of phosphoinositide-3-kinase (PI3K)-p85-subunit...
2016: Cellular Physiology and Biochemistry
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
#5
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/27917309/deutetrabenazine-in-tics-associated-with-tourette-syndrome
#6
Joseph Jankovic, Joohi Jimenez-Shahed, Cathy Budman, Barbara Coffey, Tanya Murphy, David Shprecher, David Stamler
BACKGROUND: Deutetrabenazine, an inhibitor of vesicular monoamine transporter type 2 (VMAT2) depletes presynaptic dopamine and is useful in the treatment of hyperkinetic movement disorders. This study explored the safety, tolerability, and preliminary efficacy of deutetrabenazine in adolescents with moderate-to-severe tics associated with Tourette syndrome (TS). METHODS: In this open-label study of 12-18-year-old patients with TS-related tics, deutetrabenazine was titrated up to 36 mg/day over 6 weeks to adequately suppress tics without bothersome adverse effects (AEs), followed by maintenance at optimal dose for 2 weeks...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27913700/clinical-decision-making-in-functional-and-hyperkinetic-movement-disorders
#7
Sandra M A van der Salm, Anne-Fleur van Rootselaar, Daniëlle C Cath, Rob J de Haan, Johannes H T M Koelman, Marina A J Tijssen
OBJECTIVE: Functional or psychogenic movement disorders (FMD) present a diagnostic challenge. To diagnose FMD, clinicians must have experience with signs typical of FMD and distinguishing features from other hyperkinetic disorders. The aim of this study was to clarify the decision-making process of expert clinicians while diagnosing FMD, myoclonus, and tics. METHODS: Thirty-nine movement disorders experts rated 60 patients using a standardized web-based survey resembling clinical practice...
December 2, 2016: Neurology
https://www.readbyqxmd.com/read/27913698/hyperkinetic-psychogenic-movement-disorders-remain-a-diagnosis-at-first-sight
#8
Peter Hedera, Antonio Gambardella
No abstract text is available yet for this article.
December 2, 2016: Neurology
https://www.readbyqxmd.com/read/27905574/reply-to-spontaneous-intracranial-hypotension-and-its-association-with-movement-disorders
#9
COMMENT
Richard Salazar
In Response To: Onder H. Spontaneous intracranial hypotension and its association with movement disorders? Tremor Other Hyperkinet Mov. 2016; 6. doi: 10.7916/D84B31NS Original Article: Salazar R. Spontaneous intracranial hypotension associated with kinetic tremor and ataxia. Tremor Other Hyperkinet Mov. 2016; 6. doi: 10.7916/D8HQ3ZN5.
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27897276/spontaneous-intracranial-hypotension-and-its-association-with-movement-disorders
#10
Halil Onder
In Response To: Salazar R. Spontaneous intracranial hypotension associated with kinetic tremor and ataxia. Tremor Other Hyperkinet Mov. 2016; 6. doi: 10.7916/D8HQ3ZN5.
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27874491/movement-disorders-in-multiple-sclerosis-and-their-treatment
#11
Günther Deuschl
Hyperkinetic movement disorders such as tremors are not uncommon in patients with multiple sclerosis (MS). The classical feature is intention tremor, whereas rest tremors appear not to occur. Treatment is mainly invasive, with options of Gamma Knife surgery, thalamotomy or deep brain stimulation depending on individual circumstances. Deep brain stimulation is the only option for patients who require a bilateral intervention. All treatment recommendations have only low evidence. Tremors can also be cured spontaneously by a subsequent strategic MS lesion...
December 2016: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/27853372/post-stroke-dyskinesias
#12
REVIEW
Mohammad Obadah Nakawah, Eugene C Lai
Strokes, whether ischemic or hemorrhagic, are among the most common causes of secondary movement disorders in elderly patients. Stroke-related (vascular) movement disorders, however, are uncommon complications of this relatively common disease. The spectrum of post-stroke movement disorders is broad and includes both hypo- and hyperkinetic syndromes. Post-stroke dyskinesias are involuntary hyperkinetic movements arising from cerebrovascular insults and often present with mixed phenotypes of hyperkinesia which can sometimes be difficult to classify...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27829718/a-rare-case-of-movement-disorder-in-intensive-care-unit
#13
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/27825543/mild-parkinsonian-features-in-dystonia-literature-review-mechanisms-and-clinical-perspectives
#14
REVIEW
Lucy Haggstrom, Paul Darveniza, Stephen Tisch
Dystonia is a hyperkinetic movement disorder that can be highly stigmatizing and disabling. Substantial evidence from animal models, neuropathological, neurophysiological, neuroimaging and clinical studies emphasizes the role of dopaminergic dysfunction in the pathophysiology of dystonia, illustrating possible pathophysiological overlap with parkinsonism. Furthermore, basal ganglia dysfunction has been implicated in the pathogenesis of dystonia, and is well established to underlie the manifestations of Parkinson's disease...
October 29, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27821772/emulating-proton-induced-conformational-changes-in-the-vesicular-monoamine-transporter-vmat2-by-mutagenesis
#15
Dana Yaffe, Ariela Vergara-Jaque, Lucy R Forrest, Shimon Schuldiner
Neurotransporters located in synaptic vesicles are essential for communication between nerve cells in a process mediated by neurotransmitters. Vesicular monoamine transporter (VMAT), a member of the largest superfamily of transporters, mediates transport of monoamines to synaptic vesicles and storage organelles in a process that involves exchange of two H(+) per substrate. VMAT transport is inhibited by the competitive inhibitor reserpine, a second-line agent to treat hypertension, and by the noncompetitive inhibitor tetrabenazine, presently in use for symptomatic treatment of hyperkinetic disorders...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27819145/dopamine-depleters-in-the-treatment-of-hyperkinetic-movement-disorders
#16
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...
December 2016: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/27810713/alcohol-use-disorders-are-associated-with-increased-affective-lability-in-bipolar-disorder
#17
Trine Vik Lagerberg, Sofie Ragnhild Aminoff, Monica Aas, Thomas Bjella, Chantal Henry, Marion Leboyer, Geir Pedersen, Frank Bellivier, Romain Icick, Ole A Andreassen, Bruno Etain, Ingrid Melle
BACKGROUND: Affective dysregulation is a core feature of bipolar disorder (BD), and inter-episodic affect lability is associated with more severe outcomes including comorbidity. Rates of daily tobacco smoking and substance use disorders in BD are high. Knowledge regarding relationships between affective lability and abuse of the most commonly used substances such as tobacco, alcohol and cannabis in BD is limited. METHODS: We investigated whether dimensions of inter-episodic affective lability as measured with the Affective Lability Scale - short form (ALS-SF) were associated with lifetime daily tobacco use or alcohol (AUD) or cannabis use disorders (CUD) in a sample of 372 French and Norwegian patients with BD I and II...
January 15, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27789132/novel-hyperkinetic-dystonia-like-manifestation-and-neurological-disease-course-of-swedish-gaucher-patients
#18
Maciej Machaczka, Martin Paucar, Cecilia Kämpe Björkvall, Nicholas J C Smith, Timothy M Cox, Lars Forsgren, Per Svenningsson
BACKGROUND: Neuronopathic Gaucher disease type 3 (GD3) is frequent in northern Sweden, whereas GD1 is found throughout the country. In a nation-wide study, we examined neurological manifestations and clinical course in 12 patients with GD3 and 13 patients with GD1. METHODS: The patients were evaluated by standardized neurological assessments. Every sixth month, the GD3 patients were rated with the modified Severity Scoring Tool. At baseline and at the 3years follow-up, patients underwent University of Pennsylvania Smell Identification Test, Montreal Cognitive Assessment and Hospital Anxiety and Depression Scale...
October 21, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27786401/anti-contactin-associated-protein-2-encephalitis-relevance-of-antibody-titres-presentation-and-outcome
#19
C G Bien, Z Mirzadjanova, C Baumgartner, M D Onugoren, T Grunwald, M Holtkamp, S Isenmann, P Kermer, N Melzer, M Naumann, M Riepe, W R Schäbitz, T J von Oertzen, F von Podewils, H Rauschka, T W May
BACKGROUND AND PURPOSE: To clarify the relevance of titres of IgG antibodies against contactin-associated protein-2 (CASPR2) in diagnosing anti-CASPR2 encephalitis and to describe features and outcomes. METHODS: This was a retrospective analysis of 64 patients with CASPR2 antibodies, categorized independently as 'autoimmune encephalitis' or 'other disease'. Logistic regression methods were performed to identify potential predictors of 'autoimmune encephalitis' in addition to CASPR2 antibodies...
January 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27771175/abnormal-serotonin-transporter-availability-in-the-brains-of-adults-with-conduct-disorder
#20
Chieh Chang, Susan Shur-Fen Gau, Wen-Sheng Huang, Chyng-Yann Shiue, Chin-Bin Yeh
BACKGROUND/PURPOSE: The aims of the current study were to determine whether patients with conduct disorder (CD) showed an abnormal availability of serotonin reuptake transporter (SERT), and if their hyperkinetic symptoms, impulsivity, and quality of life were correlated with the availability of SERT. METHODS: We recruited 14 drug-naïve patients with CD and eight age-matched healthy controls (HCs). The adult attention-deficit/hyperactivity disorder (ADHD) self-report scale (ASRS), Barrett impulsivity scale (BIS), and the World Health Organization quality of life-brief version (WHOQOL-BREF) scale were administered...
October 19, 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
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