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https://www.readbyqxmd.com/read/28794249/not-all-scn1a-epileptic-encephalopathies-are-dravet-syndrome-early-profound-thr226met-phenotype
#1
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels, Hema R Murali, Gemma Carvill, Candace T Myers, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms...
August 9, 2017: Neurology
https://www.readbyqxmd.com/read/28756176/infection-mediated-autoimmune-movement-disorders
#2
Alberto Cucca, Hamzeh A Migdadi, Alessandro Di Rocco
Infectious diseases remain the most common cause of neurological disability in the world. A number of movement disorders can develop in adults and children in response to infections. These can occur in isolation or as part of a broader neurological illness, with movement abnormalities consequent to an encephalopathy or a broader brain dysfunction. While most infection-related movement disorders are direct consequences of an active infectious process affecting cerebral structures implied in the motor network, at times a delayed immune-mediated process in response to a previous infectious is responsible for the neurological dysfunction...
July 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28742396/valbenazine-for-tardive-dyskinesia
#3
Oliver Freudenreich, Gary Remington
Tardive dyskinesia (TD) remains a clinical concern for any patient who receives an antipsychotic. While the overall risk of developing TD is lower with newer antipsychotics compared to older agents, a significant number of patients who require long-term treatment will develop TD. Recently, valbenazine (brand name Ingrezza) became the first drug to be approved by the FDA specifically for the treatment of TD. In this New Drug Review, we summarize the basic pharmacology and clinical trial results for valbenazine...
2017: Clinical Schizophrenia & related Psychoses
https://www.readbyqxmd.com/read/28734550/verb-naming-fluency-in-hypokinetic-and-hyperkinetic-movement-disorders
#4
Ece Bayram, Muhittin C Akbostanci
Cortical motor regions are considered to play a role in action related language. These regions are affected differently in different types of movement disorders. Parkinson's disease, a hypokinetic movement disorder, has been shown to cause action language disruptions alongside movement deficits. Action language, however, has not been investigated in primary cervical dystonia, a hyperkinetic movement disorder. The aim of this study is to investigate whether action language is affected differently in hypokinetic and hyperkinetic movement disorders which have different effects on movements...
July 1, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28709018/adhd-research-in-india-a-narrative-review
#5
REVIEW
Pooja Patnaik Kuppili, Harshini Manohar, Raman Deep Pattanayak, Rajesh Sagar, Balaji Bharadwaj, Preeti Kandasamy
INTRODUCTION: Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder with no clear etiopathogenesis. Owing to unique socio cultural milieu of India, it is worthwhile reviewing research on ADHD from India and comparing findings with global research. Thereby, we attempted to provide a comprehensive overview of research on ADHD from India. METHODS: A boolean search of articles published in English from September 1966 to January 2017 on electronic search engines Google Scholar, PubMed, IndMED, MedIND, using the search terms "ADHD", "Attention Deficit and Hyperactivity Disorder", "Hyperactivity" ,"Child psychiatry", "Hyperkinetic disorder", "Attention Deficit Disorder", "India"was carried out and peer - reviewed studies conducted among human subjects in India were included for review...
July 5, 2017: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/28699794/valbenazine-for-the-treatment-of-tardive-dyskinesia
#6
Lauren C Seeberger, Robert A Hauser
Tardive dyskinesia (TD) is a hyperkinetic movement disorder that may result from treatment with antipsychotics or other dopamine receptor blocking agents. Underlying pathophysiology is incompletely understood but since the 1970s dopamine depleting agents have been used to reduce involuntary movements. The search for safe, effective treatments for TD is ongoing. Valbenazine, a novel VMAT2 inhibitor, has recently been FDA approved for treatment of TD. Areas covered: An overview of TD, unmet medical needs and current treatment guidelines are presented...
July 12, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28666745/the-clinical-spectrum-of-childhood-narcolepsy
#7
REVIEW
Emanuela Postiglione, Elena Antelmi, Fabio Pizza, Michel Lecendreux, Yves Dauvilliers, Giuseppe Plazzi
Narcolepsy type 1 is a life-long, severe, multifaceted disease often arising in childhood or adolescence. Beyond the classical symptoms (excessive daytime sleepiness, cataplexy, hallucinations, sleep paralysis and nocturnal fragmented sleep), metabolic, endocrinological, psychiatric and psychosocial aspects must be considered. Despite the increased awareness after H1N1 pandemic influenza and vaccination, narcolepsy is still misdiagnosed and unrecognized. The peculiar presentation of symptoms in narcoleptic children could in part explain the misdiagnoses...
May 8, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/28659770/evaluation-of-azd1446-as-a-therapeutic-in-dyt1-dystonia
#8
Chelsea N Zimmerman, Karen L Eskow Jaunarajs, Maria Meringolo, Francesca R Rizzo, Massimo Santoro, David G Standaert, Antonio Pisani
DYT1 dystonia is an early-onset, hyperkinetic movement disorder caused by a deletion in the gene TOR1A, which encodes the protein torsinA. Several lines of evidence show that in animal models of DTY1 dystonia, there is impaired basal dopamine (DA) release and enhanced acetylcholine tone. Clinically, anticholinergic drugs are the most effective pharmacological treatment for DYT1 dystonia, but the currently used agents are non-selective muscarinic antagonists and associated with side effects. We used a DYT1 ∆GAG knock-in mouse model (DYT1 KI) to investigate whether nicotine and/or a non-desensitizing nicotinic agonist, AZD1446, would increase DA output in DYT1 dystonia...
2017: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/28649394/functional-neuroimaging-and-chorea-a-systematic-review
#9
REVIEW
Debra J Ehrlich, Ruth H Walker
Chorea is a hyperkinetic movement disorder consisting of involuntary irregular, flowing movements of the trunk, neck or face. Although Huntington's disease is the most common cause of chorea in adults, chorea can also result from many other neurodegenerative, metabolic, and autoimmune conditions. While the pathophysiology of these different conditions is quite variable, recent advances in functional imaging have enabled the development of new methods for analysis of brain activity and neuronal dysfunction. In this paper we review the growing body of functional imaging data that has been performed in chorea syndromes and identify particular trends, which can be used to better understand the underlying network changes within the basal ganglia...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28618239/extent-and-risks-of-antipsychotic-off-label-use-in-children-and-adolescents-in-germany-between-2004-and-2011
#10
Carsten Schröder, Michael Dörks, Bianca Kollhorst, Tilo Blenk, Ralf W Dittmann, Edeltraut Garbe, Oliver Riedel
OBJECTIVE: Only little is known about antipsychotic (AP) off-label use (OLU) in pediatric populations. It was the aim of this study to examine the frequency as well as the risks of off-label AP use in underaged patients. METHODS: To calculate the frequency of off-label AP prescriptions for the years 2004-2011, we used claims data of more than two million minors aged 0-17 years. Off-label prescriptions were analyzed with regard to type of OLU, physician specialty, and underlying diagnoses...
June 15, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28601961/basal-ganglia-movement-disorders-and-deep-brain-stimulation-advances-made-through-non-human-primate-research
#11
REVIEW
Thomas Wichmann, Hagai Bergman, Mahlon R DeLong
Studies in non-human primates (NHPs) have led to major advances in our understanding of the function of the basal ganglia and of the pathophysiologic mechanisms of hypokinetic movement disorders such as Parkinson's disease and hyperkinetic disorders such as chorea and dystonia. Since the brains of NHPs are anatomically very close to those of humans, disease states and the effects of medical and surgical approaches, such as deep brain stimulation (DBS), can be more faithfully modeled in NHPs than in other species...
June 10, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28566174/role-of-the-other-babinski-sign-in-hyperkinetic-facial-disorders
#12
Sara Varanda, Sofia Rocha, Margarida Rodrigues, Álvaro Machado, Gisela Carneiro
BACKGROUND: The "other Babinski sign" consists in the co-contraction of the orbicularis and frontalis muscles, causing an eyebrow elevation during ipsilateral eye closure. It cannot be voluntarily reproduced. AIMS OF THE STUDY: To determine the utility of this sign in the differential diagnosis of hyperkinetic facial disorders. METHODS: The presence of the sign was assessed in consecutive patients with blepharospasm, primary hemifacial spasm or post-paralytic facial syndrome treated in a botulinum toxin outpatient clinic...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28556479/tonic-and-phasic-changes-in-anteromedial-globus-pallidus-activity-in-tourette-syndrome
#13
Michal Israelashvili, Anouk Y J M Smeets, Maya Bronfeld, Dagmar H Zeef, Albert F G Leentjens, Vivianne van Kranen-Mastenbroek, Marcus L F Janssen, Yasin Temel, Linda Ackermans, Izhar Bar-Gad
BACKGROUND: Tourette syndrome is a hyperkinetic neurodevelopmental disorder characterized by tics. OBJECTIVE: Assess the neuronal changes in the associative/limbic GP associated with Tourette syndrome. METHODS: Neurophysiological recordings were performed from the anterior (associative/limbic) GPe and GPi of 8 awake patients during DBS electrode implantation surgeries. RESULTS: The baseline firing rate of the neurons was low in a state-dependent manner in both segments of the GP...
July 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28539852/abnormal-brain-connectivity-spectrum-disorders-following-thimerosal-administration-a-prospective-longitudinal-case-control-assessment-of-medical-records-in-the-vaccine-safety-datalink
#14
David A Geier, Janet K Kern, Kristin G Homme, Mark R Geier
BACKGROUND: Autism spectrum disorder (ASD), tic disorder (TD), and hyperkinetic syndrome of childhood (attention deficit disorder [ADD]/attention deficit hyperactivity disorder [ADHD]) are disorders recently defined as abnormal connectivity spectrum disorders (ACSDs) because they show a similar pattern of abnormal brain connectivity. This study examines whether these disorders are associated with exposure to thimerosal, a mercury (Hg)-based preservative. METHODS: A hypothesis testing case-control study evaluated the Vaccine Safety Datalink for the potential dose-dependent odds ratios (ORs) for diagnoses of ASD, TD, and ADD/ADHD compared to controls, following exposure to Hg from thimerosal-containing Haemophilus influenzae type b vaccines administrated within the first 15 months of life...
January 2017: Dose-response: a Publication of International Hormesis Society
https://www.readbyqxmd.com/read/28512024/repurposing-of-proton-pump-inhibitors-as-first-identified-small-molecule-inhibitors-of-endo-%C3%AE-n-acetylglucosaminidase-engase-for-the-treatment-of-ngly1-deficiency-a-rare-genetic-disease
#15
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan
N-Glycanase deficiency, or NGLY1 deficiency, is an extremely rare human genetic disease. N-Glycanase, encoded by the gene NGLY1, is an important enzyme involved in protein deglycosylation of misfolded proteins. Deglycosylation of misfolded proteins precedes the endoplasmic reticulum (ER)-associated degradation (ERAD) process. NGLY1 patients produce little or no N-glycanase (Ngly1), and the symptoms include global developmental delay, frequent seizures, complex hyperkinetic movement disorder, difficulty in swallowing/aspiration, liver dysfunction, and a lack of tears...
July 1, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#16
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
August 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28470381/relationship-of-serum-ferritin-level-and-tic-severity-in-children-with-tourette-syndrome
#17
Debabrata Ghosh, Elizabeth Burkman
PURPOSE: Tics can be considered hyperkinetic movements akin to restless leg syndrome (RLS). Drawing the analogy of iron deficiency as an etiology of RLS, it is conceivable that iron deficiency may underlie or worsen tics in Tourette syndrome (TS). The purpose of this study was to evaluate the relationship between serum ferritin levels and tic severity, as well as consequent impact on life, in children with TS. METHODS: Children <18 years, diagnosed with TS during 2009-2015, were reviewed...
August 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28462554/an-interesting-case-of-a-movement-disorder
#18
K Ganesamoorthy, R Surendran, K Jamunarani, A Akila, C J Selvakumar, G Suganthi, M Shalini, Usha
Neuroacanthocytosis is a genetic neurodegenerative disorder with syndromes of variable inheritance. These hyperkinetic movement disorders are reported to be very rare. It is associated with choreiform movements, orofacial and lingual dyskinesias and acanthocytes on peripheral smear and normolipoproteinemia. Here we present a similar case.
March 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#19
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
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
#20
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
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