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hyperkinetic disorders

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https://www.readbyqxmd.com/read/28400125/age-dependent-decrease-of-gad65-67-mrnas-but-normal-densities-of-gabaergic-interneurons-in-the-brain-regions-of-shank3-overexpressing-manic-mouse-model
#1
Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Yeunkum Lee, Kihoon Han
Dysfunction of inhibitory GABAergic interneurons is considered a major pathophysiological feature of various neurodevelopmental and neuropsychiatric disorders. The variants of SHANK3 gene, encoding a core scaffold protein of the excitatory postsynapse, have been associated with numerous brain disorders. It has been suggested that abnormalities of GABAergic interneurons could contribute to the SHANK3-related disorders, but the limitation of these studies is that they used mainly Shank3 knock-out mice. Notably, Shank3-overexpressing transgenic mice, modeling human hyperkinetic disorders, also show reduced inhibitory synaptic transmission, abnormal electroencephalography, and spontaneous seizures...
April 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28399095/-modern-principles-of-integrated-diagnostics-and-rehabilitation-of-perinatal-lesions-of-the-nervous-system-and-their-consequences
#2
S A Nemkova
The article is devoted to the comprehensive diagnosis and treatment of perinatal lesions of the nervous system and their consequences in children. Reflects modern approaches to data classification conditions, taking into account ideas on the etiology and pathogenesis of the disease, the clinical manifestations of the main syndromes (excitation and depression, hypertensive, convulsive, movement disorders) as the neonatal period, and in the formation of long-term effects (motor and mental delay and speech development, hyperkinetic syndrome, cerebral palsy and others)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28397578/paroxysmal-kinesigenic-dyskinesia-like-phenotype-in-multiple-sclerosis
#3
Roxana Pop, Stefan Kipfer
In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28382107/tetrabenazine-in-treatment-of-hyperkinetic-movement-disorders-an-observational-study
#4
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/28357411/gnao1-encephalopathy-broadening-the-phenotype-and-evaluating-treatment-and-outcome
#5
Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren J Carss, F Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C Dale, Shekeeb S Mohammad, Ubaid Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A Kurian, Renzo Guerrini
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28276257/pre-conceptual-and-prenatal-supplementary-folic-acid-and-multivitamin-intake-behavioral-problems-and-hyperkinetic-disorders-a-study-based-on-the-danish-national-birth-cohort-dnbc
#6
Jasveer Virk, Zeyan Liew, Jørn Olsen, Ellen A Nohr, Janet M Catov, Beate Ritz
OBJECTIVE: To evaluate whether early folic acid or multivitamin supplementation during pregnancy prevents diagnosis of hyperkinetic disorders (HKD), treatment for attention deficit hyperactivity disorder (ADHD), and ADHD-like behaviors reported by parents participating in the DNBC for children at age 7. METHODS: HKD diagnosis and ADHD medication use data were obtained from the Danish National Hospital, Central Psychiatric and Pharmaceutical registers. We estimated hazard ratios (HRs) for HKD diagnosis and ADHD medication use and risk ratios (RRs) for parent-reported ADHD behavior collected with the Strength and Difficulties Questionnaire (SDQ), comparing children whose mothers took folic acid or multivitamin supplements early in pregnancy defined as starting periconceptionally (4 weeks prior to their last menstrual period (LMP)) through 8 weeks after their LMP (4-8 weeks), to children whose mothers indicated no supplement use for the same entire period...
March 9, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28255005/international-union-of-basic-and-clinical-pharmacology-ci-structures-and-small-molecule-modulators-of-mammalian-adenylyl-cyclases
#7
REVIEW
Carmen W Dessauer, Val J Watts, Rennolds S Ostrom, Marco Conti, Stefan Dove, Roland Seifert
Adenylyl cyclases (ACs) generate the second messenger cAMP from ATP. Mammalian cells express nine transmembrane AC (mAC) isoforms (AC1-9) and a soluble AC (sAC, also referred to as AC10). This review will largely focus on mACs. mACs are activated by the G-protein Gαs and regulated by multiple mechanisms. mACs are differentially expressed in tissues and regulate numerous and diverse cell functions. mACs localize in distinct membrane compartments and form signaling complexes. sAC is activated by bicarbonate with physiologic roles first described in testis...
April 2017: Pharmacological Reviews
https://www.readbyqxmd.com/read/28247426/birth-asphyxia-measured-by-the-ph-value-of-the-umbilical-cord-blood-may-predict-an-increased-risk-of-attention-deficit-hyperactivity-disorder
#8
Susanne Hvolgaard Mikkelsen, Jørn Olsen, Bodil Hammer Bech, Chunsen Wu, Zeyan Liew, Mika Gissler, Carsten Obel, Onyebuchi Arah
AIM: Although birth asphyxia is a major risk factor for neonatal and childhood morbidity and mortality, it has not been investigated much in relation to attention deficit hyperactivity disorder (ADHD). We examined whether birth asphyxia measured by the pH of the blood in the umbilical artery cord was associated with childhood ADHD. METHOD: A population-based cohort of 295 687 children born in Finland between 1991 and 2002 was followed until December 31, 2007. ADHD was identified by the International Classification of Diseases, 10th edition, as a diagnosis of hyperkinetic disorder...
March 1, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28211645/disability-and-inclusive-education-in-an-italian-region-analysis-of-the-data-for-the-school-year-2012-2013
#9
Evamaria Lanzarini, Antonia Parmeggiani
BACKGROUND: In Italy, pupils with disabilities enroll in mainstream schools and attend the ordinary classes at all educational levels. For the past twelve years, the Region Emilia Romagna has witnessed an increase in the number of children who are in need of special support. The aim of the study was to identify the causes of disability in children attending public schools during the school year 2012-2013. METHODS: The study was designed as a cross-sectional survey...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28190498/classification-of-involuntary-movements-in-dogs-paroxysmal-dyskinesias
#10
REVIEW
Mark Lowrie, Laurent Garosi
Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically normal between episodes. PDs are associated with a broad spectrum of clinical presentations, encompassing various aetiologies...
February 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28186000/monitoring-fetal-maturation-objectives-techniques-and-indices-of-autonomic-function
#11
Dirk Hoyer, Jan Żebrowski, Dirk Cysarz, Hernâni Gonçalves, Adelina Pytlik, Célia Amorim-Costa, João Bernardes, Diogo Ayres-de-Campos, Otto W Witte, Ekkehard Schleußner, Lisa Stroux, Christopher Redman, Antoniya Georgieva, Stephen Payne, Gari Clifford, Maria G Signorini, Giovanni Magenes, Fernando Andreotti, Hagen Malberg, Sebastian Zaunseder, Igor Lakhno, Uwe Schneider
Monitoring the fetal behavior does not only have implications for acute care but also for identifying developmental disturbances that burden the entire later life. The concept, of 'fetal programming', also known as 'developmental origins of adult disease hypothesis', e.g. applies for cardiovascular, metabolic, hyperkinetic, cognitive disorders. Since the autonomic nervous system is involved in all of those systems, cardiac autonomic control may provide relevant functional diagnostic and prognostic information...
February 10, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28168537/hyperkinetic-movement-disorder-emergencies
#12
REVIEW
Giovanni Cossu, Carlo Colosimo
A movement disorder emergency has been defined by Fahn and Frucht as "any neurological disorder evolving acutely or subacutely, in which the clinical presentation is dominated by a primary movement disorder, and in which failure to accurately diagnose and manage the patient may result in significant morbidity or even mortality." In this review, we discuss the most common situations in which hyperkinetic movement disorders, including chorea, ballism, dystonia, myoclonus, tics, as well as psychogenic disorders, can present as emergencies...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28095819/adhd-comorbid-disorders-and-psychosocial-functioning-how-representative-is-a-child-cohort-study-findings-from-a-national-patient-registry
#13
Beate Oerbeck, Kristin Romvig Overgaard, Stian Thoresen Aspenes, Are Hugo Pripp, Marianne Mordre, Heidi Aase, Ted Reichborn-Kjennerud, Pal Zeiner
BACKGROUND: Cohort studies often report findings on children with Attention Deficit Hyperactivity Disorder (ADHD) but may be biased by self-selection. The representativeness of cohort studies needs to be investigated to determine whether their findings can be generalised to the general child population. The aim of the present study was to examine the representativeness of child ADHD in the Norwegian Mother and Child Cohort Study (MoBa). METHODS: The study population was children born between January 1, 2000 and December 31, 2008 registered with hyperkinetic disorders (hereafter ADHD) in the Norwegian Patient Registry during the years 2008-2013, and two groups of children with ADHD were identified in: 1...
January 17, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28012953/new-insights-in-the-neurological-phenotype-of-aceruloplasminemia-in-caucasian-patients
#14
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...
March 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27992533/grey-matter-microstructural-integrity-alterations-in-blepharospasm-are-partially-reversed-by-botulinum-neurotoxin-therapy
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
January 10, 2017: Neurology
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