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paroxysmal movement disorders

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https://www.readbyqxmd.com/read/27931826/alternating-hemiplegia-of-childhood-as-a-new-presentation-of-adenylate-cyclase-5-mutation-associated-disease-a-report-of-two-cases
#1
Ana Westenberger, Christoph Max, Norbert Brüggemann, Aloysius Domingo, Karen Grütz, Heike Pawlack, Anne Weissbach, Andrea A Kühn, Juliane Spiegler, Anthony E Lang, Jürgen Sperner, Victor S C Fung, Jens Schallner, Gabriele Gillessen-Kaesbach, Alexander Münchau, Christine Klein
Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.
December 6, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#2
Sandra Juozapaite, Ruta Praninskiene, Birute Burnyte, Laima Ambrozaityte, Birute Skerliene
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis...
December 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#3
Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P O'Brien
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement...
November 28, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27874491/movement-disorders-in-multiple-sclerosis-and-their-treatment
#4
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/27719843/functional-jerks-tics-and-paroxysmal-movement-disorders
#5
Y E M Dreissen, D C Cath, M A J Tijssen
Functional jerks are among the most common functional movement disorders. The diagnosis of functional jerks is mainly based on neurologic examination revealing specific positive clinical signs. Differentiation from other jerky movements, such as tics, organic myoclonus, and primary paroxysmal dyskinesias, can be difficult. In support of a functional jerk are: acute onset in adulthood, precipitation by a physical event, variable, complex, and inconsistent phenomenology, suggestibility, distractibility, entrainment and a Bereitschaftspotential preceding the movement...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27693801/the-%C3%AE-2%C3%AE-3%C3%AE-2-gabaa-receptor-preferring-agonist-ns11394-aggravates-dystonia-in-the-phenotypic-dt-sz-model
#6
Christine Spröte, Franziska Richter, Anne Bauer, Julia Gerstenberger, Angelika Richter
Dystonia is a movement disorder, characterized by involuntary muscle contractions resulting in abnormal movements and/or postures. Antidystonic effects of benzodiazepines in patients with different types of dystonia could be replicated in the dt(sz) mutant hamster, a phenotypic model of paroxysmal dystonia. Compounds with preferred binding at specific subunits of the gamma aminobutyric acid type A (GABAA) receptor may provide a more beneficial spectrum of effects in comparison with benzodiazepines. We therefore examined the effects of the α1β3γ2 GABAA receptor preferring compound zolpidem (2...
September 30, 2016: European Journal of Pharmacology
https://www.readbyqxmd.com/read/27668023/paroxysmal-posterior-variant-alien-hand-syndrome-associated-with-parietal-lobe-infarction-case-presentation
#7
Bekir Enes Demiryürek, Aslı Aksoy Gündogdu, Bilgehan Atılgan Acar, Aybala Neslihan Alagoz
Alien hand syndrome (AHS) is an involuntary and rare neurological disorder emerges at upper extremity. AHS is a disconnection syndrome with the symptoms of losing sense of agency and sense of ownership, and presence of involuntary autonomic motor activity. There are frontal, callosal and posterior types of AHS and each of them occurs depend on the lesions of different of the brain. Posterior variant is a rarely encountered AHS type compared to others. AHS, generally regarded as persistent, but rarely maybe observed as paroxysmal...
October 2016: Cognitive Neurodynamics
https://www.readbyqxmd.com/read/27615419/angelman-syndrome-insights-into-a-rare-neurogenetic-disorder
#8
REVIEW
Karin Buiting, Charles Williams, Bernhard Horsthemke
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity. Angelman syndrome results from loss of function of the imprinted UBE3A (ubiquitin-protein ligase E3A) gene on chromosome 15q11.2-q13. This loss of function can be caused by a mutation on the maternal allele, a 5-7 Mb deletion of the maternally inherited chromosomal region, paternal uniparental disomy of chromosome 15, or an imprinting defect...
October 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27567459/paroxysmal-movement-disorders-an-update
#9
A Méneret, E Roze
Paroxysmal movement disorders comprise both paroxysmal dyskinesia, characterized by attacks of dystonic and/or choreic movements, and episodic ataxia, defined by attacks of cerebellar ataxia. They may be primary (familial or sporadic) or secondary to an underlying cause. They can be classified according to their phenomenology (kinesigenic, non-kinesigenic or exercise-induced) or their genetic cause. The main genes involved in primary paroxysmal movement disorders include PRRT2, PNKD, SLC2A1, ATP1A3, GCH1, PARK2, ADCY5, CACNA1A and KCNA1...
August 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27559330/narcolepsy-following-yellow-fever-vaccination-a-case-report
#10
Richard E Rosch, Michael Farquhar, Paul Gringras, Deb K Pal
Narcolepsy with cataplexy is a rare, but important differential diagnosis for daytime sleepiness and atonic paroxysms in an adolescent. A recent increase in incidence in the pediatric age group probably linked to the use of the Pandemrix influenza vaccine in 2009, has increased awareness that different environmental factors can "trigger" narcolepsy with cataplexy in a genetically susceptible population. Here, we describe the case of a 13-year-old boy with narcolepsy following yellow fever vaccination. He carries the HLA DQB1*0602 haplotype strongly associated with narcolepsy and cataplexy...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27515699/abnormal-somatosensory-synchronization-in-patients-with-paroxysmal-kinesigenic-dyskinesia-a-magnetoencephalographic-study
#11
Fu-Jung Hsiao, Wan-Yu Hsu, Wei-Ta Chen, Rou-Shayn Chen, Yung-Yang Lin
Paroxysmal kinesigenic dyskinesia (PKD) is a rare group of hyperkinetic movement disorders characterized by brief attacks of choreoathetosis or dystonia. To clarify the alterations of the functional connectivity within the somatosensory network in PKD patients, magnetoencephalographic (MEG) responses to paired median-nerve electrical stimulation were recorded in 10 PKD patients treated by carbamazepine or oxcarbamazepine and 22 age-matched controls. In patients, MEG recordings were obtained during drug-on and -off periods...
August 11, 2016: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/27449084/aberrant-transcriptional-networks-in-step-wise-neurogenesis-of-paroxysmal-kinesigenic-dyskinesia-induced-pluripotent-stem-cells
#12
Chun Li, Yu Ma, Kunshan Zhang, Junjie Gu, Fan Tang, Shengdi Chen, Li Cao, Siguang Li, Ying Jin
Paroxysmal kinesigenic dyskinesia (PKD) is an episodic movement disorder with autosomal-dominant inheritance and marked variability in clinical manifestations.Proline-rich transmembrane protein 2 (PRRT2) has been identified as a causative gene of PKD, but the molecular mechanism underlying the pathogenesis of PKD still remains a mystery. The phenotypes and transcriptional patterns of the PKD disease need further clarification. Here, we report the generation and neural differentiation of iPSC lines from two familial PKD patients with c...
July 18, 2016: Oncotarget
https://www.readbyqxmd.com/read/27240912/natural-history-of-canine-paroxysmal-movement-disorders-in-labrador-retrievers-and-jack-russell-terriers
#13
Mark Lowrie, Laurent Garosi
Delineation of the typical disease progression in canine paroxysmal dyskinesia (PD) may assist in evaluating therapeutic agents during clinical trials. Our objective was to establish the natural disease course in a group of dogs diagnosed with PD that received no medication. Fifty-nine dogs (36 Labradors, 23 JRTs) with clinically confirmed PD and a follow-up of ≥3 years were retrospectively reviewed. Dogs with PD had a young onset, were triggered by startle or sudden movements, and had a male bias (75%) with the majority being entire sample population...
July 2016: Veterinary Journal
https://www.readbyqxmd.com/read/27098603/rare-onset-symptoms-in-multiple-sclerosis
#14
Ahmet Evlice, Turgay Demir, Cansel Kaleağası, Figen Özcan, Meltem Demirkıran
INTRODUCTION: Multiple sclerosis (MS) may present with unusual manifestations such as pain syndromes, movement disorders, rare cranial nerve involvement, cognitive or psychiatric symptoms, leading to diagnostic dilemma. The purpose of this study is to determine the types of rare onset symptoms in patients with MS in order to provide better clues for early diagnosis. METHOD: We, retrospectively, analysed data of 680 MS patients who were diagnosed or followed-up in our demyelinating diseases unit...
June 2016: Acta Clinica Belgica
https://www.readbyqxmd.com/read/27079681/nomenclature-of-genetic-movement-disorders-recommendations-of-the-international-parkinson-and-movement-disorder-society-task-force
#15
Connie Marras, Anthony Lang, Bart P van de Warrenburg, Carolyn M Sue, Sarah J Tabrizi, Lars Bertram, Saadet Mercimek-Mahmutoglu, Darius Ebrahimi-Fakhari, Thomas T Warner, Alexandra Durr, Birgit Assmann, Katja Lohmann, Vladimir Kostic, Christine Klein
The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used as a reference list of genetically determined disorders,including (I) erroneously assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV) unconfirmed loci and genes, (V) a combination of causative genes and risk factor genes in the same list, and (VI) discordance between phenotype and list assignment. In this article, we report on the recommendations of the International Parkinson and Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders and present a system for naming genetically determined movement disorders that addresses these problems...
April 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27061943/phenotypic-insights-into-adcy5-associated-disease
#16
Florence C F Chang, Ana Westenberger, Russell C Dale, Martin Smith, Hardev S Pall, Belen Perez-Dueñas, Padraic Grattan-Smith, Robert A Ouvrier, Neil Mahant, Bernadette C Hanna, Matthew Hunter, John A Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G L Morris, Alex Münchau, Detelina Grozeva, Keren J Carss, Lucy Raymond, Manju A Kurian, Christine Klein, Victor S C Fung
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations. METHODS: In 5 of the 7 patients, followed over a period of 9 to 32 years, ADCY5 was sequenced by Sanger sequencing...
July 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27046658/effective-treatment-of-paroxysmal-nonkinesigenic-dyskinesia-with-oxcarbazepine
#17
Aditya Kumar, Anna Szekely, Bahman Jabbari
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare chronic disorder characterized by intermittent, non-movement-related involuntary movements. The response to currently available therapies is inconsistent and temporary. We describe here a patient with infantile-onset PNKD who failed a number of pharmaceutical agents used alone or in combination. Treatment with oxcarbazepine resulted in a substantial reduction in the frequency and severity of episodes. The patient has been followed for 4 years now, and the outcome of treatment is consistently favorable...
July 2016: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/26982753/glucose-transporter-type-1-deficiency-due-to-slc2a1-gene-mutations-a-rare-but-treatable-cause-of-metabolic-epilepsy-and-extrapyramidal-movement-disorder-own-experience-and-literature-review
#18
REVIEW
Elżbieta Szczepanik, Iwona Terczyńska, Małgorzata Kruk, Agata Lipiec, Ewa Dudko, Jolanta Tryfon, Marta Jurek, Dorota Hoffman-Zacharska
THE AIM: To present the molecular and clinical characteristics of three children with glucose deficiency syndrome, an inborn rare metabolic disease, caused by mutations in the SLC2A1 gene. MATERIAL AND METHODS: The investigation was carried out in three children: two girls and one boy showing symptoms of GLUT1 deficiency syndrome (GLUT1-DS). They were referred for SLC2A1 gene analysis. RESULTS: The presence of mutations in all of them was confirmed...
October 2015: Developmental Period Medicine
https://www.readbyqxmd.com/read/26961263/the-genetics-of-benign-paroxysmal-torticollis-of-infancy-is-there-an-association-with-mutations-in-the-cacna1a-gene
#19
Meyeon Shin, Laurie M Douglass, Jeff M Milunsky, N Paul Rosman
Benign paroxysmal torticollis of infancy is an unusual movement disorder, often accompanied by a family history of migraine. Some benign paroxysmal torticollis cases are associated with CACNA1A mutations. The authors sought to determine the frequency of CACNA1A mutations in benign paroxysmal torticollis by testing 8 children and their parents and by searching the literature for benign paroxysmal torticollis cases with accompanying CACNA1A mutations or other disorders linked to the same gene. In our 8 benign paroxysmal torticollis cases, the authors found 3 different polymorphisms, but no pathogenic mutations...
July 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/26908561/prevalence-and-characteristics-of-positional-nystagmus-in-normal-subjects
#20
Camilla Martens, Frederik Kragerud Goplen, Karl Fredrik Nordfalk, Torbjørn Aasen, Stein Helge Glad Nordahl
OBJECTIVE: In clinical practice, patients are often referred due to a finding of positional nystagmus that does not always appear to correlate with clinical symptoms of benign paroxysmal positional vertigo. To know when to consider nystagmus to be of clinical relevance, it is necessary to know the prevalence and characteristics of positional nystagmus in a healthy population. STUDY DESIGN: Case series of 75 healthy subjects. SETTING: Two tertiary referral centers in Norway...
May 2016: Otolaryngology—Head and Neck Surgery
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