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hyperkinetic disorders

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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...
November 6, 2016: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/27810713/alcohol-use-disorders-are-associated-with-increased-affective-lability-in-bipolar-disorder
#13
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...
October 14, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27789132/novel-hyperkinetic-dystonia-like-manifestation-and-neurological-disease-course-of-swedish-gaucher-patients
#14
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
#15
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...
October 27, 2016: 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
#16
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
https://www.readbyqxmd.com/read/27764521/fahr-s-syndrome-and-clinical-correlation-a-case-series-and-literature-review
#17
M Pistacchi, M Gioulis, F Sanson, S M Marsala
INTRODUCTION: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter. The main clinical manifestations are rigid or hyperkinetic syndrome, mood disorders and cognitive impairment. The correlation between neurological impairment and symmetrical basal ganglia calcification is not so frequent. Aim of the study was to report the results of neurological assessment of three sporadic cases of Fahr's disease highlighting a correlation between the clinical syndrome and neuroimaging...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27721587/tetrabenazine-spotlight-on-drug-review
#18
Navneet Kaur, Puneet Kumar, Sumit Jamwal, Rahul Deshmukh, Vinod Gauttam
BACKGROUND: Tetrabenazine (TBZ) is the only US Food and Drug Administration-approved drug for the treatment of chorea related to Huntington's disease and other hyperkinetic disorders. TBZ was first synthesized in 1950, and was then used for the treatment of psychosis. But later its potential in treating hyperkinetic disorders was proved by its ability to block vesicular monoamine transporters 2 and deplete monoamine stores. There is still lack of awareness about the therapeutic potential of this drug...
September 2016: Annals of Neurosciences
https://www.readbyqxmd.com/read/27707656/the-international-classification-of-functioning-icf-to-evaluate-deep-brain-stimulation-neuromodulation-in-childhood-dystonia-hyperkinesia-informs-future-clinical-research-priorities-in-a-multidisciplinary-model-of-care
#19
Hortensia Gimeno, Jean-Pierre Lin
The multidisciplinary team (MDT) approach illustrates how motor classification systems, assessments and outcome measures currently available have been applied to a national cohort of children and young people with dystonia and other hyperkinetic movement disorders (HMD) particularly with a focus on dyskinetic cerebral palsy (CP). The paper is divided in 3 sections. Firstly, we describe the service model adopted by the Complex Motor Disorders Service (CMDS) at Evelina London Children's Hospital and King's College Hospital (ELCH-KCH) for deep brain stimulation...
September 8, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27690368/hereditary-dopamine-transporter-deficiency-syndrome-challenges-in-diagnosis-and-treatment
#20
Yilmaz Yildiz, Emine Pektas, Aysegul Tokatli, Goknur Haliloglu
Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by a defect in the neuronal uptake of dopamine. To date, 20 patients are reported in the literature, and we present 2 additional patients with DTDS harboring novel homozygous SLC6A3 gene mutations. Patient A is an 8-month-old male with neonatal-onset hypotonia, who developed orolingual dyskinetic movements and oculogyric crises after 4 months of age, with evolution to status dystonicus episodes. Patient B is a 4-year-old male who also had hypotonia since birth, with additional severe limb contractions and oculogyric crises after the age of 3 months, with a misdiagnosis of epileptic encephalopathy...
September 30, 2016: Neuropediatrics
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