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Alternant hemiplegia

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https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#1
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
April 29, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28637637/alternating-hemiplegia-of-childhood-and-a-pathogenic-variant-of-atp1a3-a-case-report-and-pathophysiological-considerations
#2
Elena Pavlidis, Peter Uldall, Camilla Gøbel Madsen, Marina Nikanorova, Martin Fabricius, Hans Høgenhaven, Francesco Pisani, Rikke S Møller, Elena Gardella, Guido Rubboli
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit...
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28556907/challenges-describing-motor-profiles-in-alternating-hemiplegia-of-childhood
#3
Lucy Alderson
No abstract text is available yet for this article.
May 30, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28543714/motor-function-domains-in-alternating-hemiplegia-of-childhood
#4
Melanie Masoud, Kelly Gordon, Amanda Hall, Joan Jasien, Kara Lardinois, Julie Uchitel, Melissa Mclean, Lyndsey Prange, Jeffrey Wuchich, Mohamad A Mikati
AIM: To characterize motor function profiles in alternating hemiplegia of childhood, and to investigate interrelationships between these domains and with age. METHOD: We studied a cohort of 23 patients (9 males, 14 females; mean age 9y 4mo, range 4mo-43y) who underwent standardized tests to assess gross motor, upper extremity motor control, motor speech, and dysphagia functions. RESULTS: Gross Motor Function Classification System (GMFCS), Gross Motor Function Measure-88 (GMFM-88), Manual Ability Classification System (MACS), and Revised Melbourne Assessment (MA2) scales manifested predominantly mild impairments; motor speech, moderate to severe; Modified Dysphagia Outcome and Severity Scale (M-DOSS), mild-to moderate deficits...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28472154/hypothermia-induced-dystonia-and-abnormal-cerebellar-activity-in-a-mouse-model-with-a-single-disease-mutation-in-the-sodium-potassium-pump
#5
Toke Jost Isaksen, Lieke Kros, Natascia Vedovato, Thomas Hellesøe Holm, Ariel Vitenzon, David C Gadsby, Kamran Khodakhah, Karin Lykke-Hartmann
Mutations in the neuron-specific α3 isoform of the Na+/K+-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders. We show that mice harboring a heterozygous hot spot disease mutation, D801Y (α3+/D801Y), suffer abrupt hypothermia-induced dystonia identified by electromyographic recordings. Single-neuron in vivo recordings in awake α3+/D801Y mice revealed irregular firing of Purkinje cells and their synaptic targets, the deep cerebellar nuclei neurons, which was further exacerbated during dystonia and evolved into abnormal high-frequency burst-like firing...
May 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28465228/knockout-of-sodium-pump-%C3%AE-3-subunit-gene-atp1a3-results-in-perinatal-seizure-and-defective-respiratory-rhythm-generation
#6
Keiko Ikeda, Hiroshi Onimaru, Kiyoshi Kawakami
ATP1A3 encodes a neuron-specific human α3 subunit isoform of the sodium pump that plays an important role in neuronal excitability. Point and deletion mutations in ATP1A3 have been recognized in diverse neurological disorders. Three ATP1A3 disorders, alternating hemiplegia of childhood (AHC); apnea; and severe infantile epileptic encephalopathy often appear shortly after birth. To gain insight into the pathophysiology of these disorders and to understand the functional roles of the sodium pump α3 subunit in the brain in vivo during this period of development, we examined the phenotype of Atp1a3 knockout homozygous mouse fetuses (Atp1a3(-/-))...
April 29, 2017: Brain Research
https://www.readbyqxmd.com/read/28338584/spring-assisted-cranioplasty-for-the-correction-of-non-syndromic-scaphocephaly-a-quantitative-analysis-of-100-consecutive-cases
#7
W Rodgers, G E Glass, S Schievano, A Borghi, N Rodriguez-Florez, A Tahim, F Angullia, W Breakey, P Knoops, M Tenhagen, J O'Hara, A Ponniah, G James, D J Dunaway, Nuo Jeelani
BACKGROUND: Spring-assisted cranioplasty has been proposed as an alternative to total calvarial remodelling for sagittal craniosynostosis. Advantages include its minimally invasive nature, reduced morbidity and hospital stay. Potential drawbacks include the need for a second procedure for removal and the lack of published long-term follow-up. We present a single institution experience of 100 consecutive cases using a novel spring design. METHODS: All patients treated at our institution between April 2010 and September 2014 were evaluated retrospectively...
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#8
REVIEW
Melanie Masoud, Lyndsey Prange, Jeffrey Wuchich, Arsen Hunanyan, Mohamad A Mikati
The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important...
February 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28293679/research-conference-summary-from-the-2014-international-task-force-on-atp1a3-related-disorders
#9
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, Dominic Poncelin, Sandra Reyna, Masayuki Sasaki, Marcio Sotero de Menezes, Kathleen Sweadner, Louis Viollet, Mary Zupanc, Kenneth Silver, Kathryn Swoboda
OBJECTIVE: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28292732/alternating-hemiplegia-and-epilepsia-partialis-continua-a-new-phenotype-for-a-novel-compound-tbc1d24-mutation
#10
Francesca Ragona, Barbara Castellotti, Barbara Salis, Stefania Magri, Jacopo C DiFrancesco, Nardo Nardocci, Silvana Franceschetti, Cinzia Gellera, Tiziana Granata
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC)...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28249736/alternating-hemiplegia-of-childhood-pharmacological-treatment-of-30-italian-patients
#11
Livia Pisciotta, Marcella Gherzi, Michela Stagnaro, Maria Grazia Calevo, Melania Giannotta, Maria Rosaria Vavassori, Edvige Veneselli, Elisa De Grandis
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered as prophylaxis for paroxysmal attacks, however, no therapy is completely effective. METHODS: Our aim is to review the pharmacological data related to the prophylactic and acute treatment of a cohort of 30 patients (16M, 14F, age range 5-42years) and to correlate them with the clinical and genetic data collected through the Italian Biobank and Clinical Registry for AHC...
June 2017: Brain & Development
https://www.readbyqxmd.com/read/28248916/light-induced-hemiplegia-an-atypical-case-of-retinal-steal-syndrome
#12
David Kerek, Sami Al Kasab, Michael U Antonucci, Raymond D Turner, Tanya N Turan
Atherosclerosis affecting the carotid arteries accounts for up to 20% of ischemic strokes 1. The clinical effects of atherosclerotic occlusive disease vary according to multiple factors, one of which is collateral circulation. In response to a chronic decrease in cerebral perfusion from atherosclerotic occlusion, alternative flow pathways, or collaterals, develop in a variety of patterns. In the setting of carotid occlusion, flow from the Circle of Willis, if complete, often comprises the main cerebral collateral network...
March 2017: Neurologist
https://www.readbyqxmd.com/read/28178170/use-of-susceptibility-weighted-imaging-in-assessing-ischemic-penumbra-a-case-report
#13
Xiujuan Wu, Song Luo, Ying Wang, Yang Chen, Jun Liu, Jing Bai, Jiachun Feng, Hongliang Zhang
RATIONALE: The ischemic penumbra assessment is essential for the subsequent therapy and prediction of evolution in patients with acute ischemic infraction. Although controversial as a perfect equivalence to penumbra, perfusion-weighted imaging (PWI)-diffusion-weighted imaging (DWI) mismatch may predict the response to thrombolysis. Due to the reliance of PWI on contrast agents, noninvasive alternatives remain an unmet need. PATIENT CONCERNS: We reported a 65-year-old man complained of paroxysmal hemiplegia of his right limbs and anepia for 2 days, whereas the symptoms lasted for about 12 hours when he admitted to the hospital...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28163531/alternating-hemiplegia-of-childhood-in-a-child-misdiagnosed-as-intractable-epilepsy
#14
Faruk Incecık, Ozlem M Herguner
No abstract text is available yet for this article.
December 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28129950/eeg-findings-during-paroxysmal-hemiplegia-in-a-patient-with-glut1-deficiency
#15
S Pellegrin, G Cantalupo, R Opri, B Dalla Bernardina, F Darra
BACKGROUND: A growing number of studies have disclosed the myriad of features that can suggest the diagnosis of a Glucose-transporter-1 deficiency (GLUT1D). The occurrence of paroxysmal movement disorders such as exercise-induced dystonia and non-kinesigenic dyskinesia, received considerable emphasis, while limited attention has been paid to other paroxysmal phenomena, as transitory neurological disorders. These paroxysmal events are roughly and variably described as limb weakness, hemiparesis or ataxia...
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27990247/bci-triggered-functional-electrical-stimulation-therapy-for-upper-limb
#16
Cesar Marquez-Chin, Aaron Marquis, Milos R Popovic
We present here the integration of brain-computer interfacing (BCI) technology with functional electrical stimulation therapy to restore voluntary function. The system was tested with a single man with chronic (6 years) severe left hemiplegia resulting from a stroke. The BCI, implemented as a simple "brain-switch" activated by power decreases in the 18 Hz - 28 Hz frequency range of the participant's electroencephalograpic signals, triggered a neuroprosthesis designed to facilitate forward reaching, reaching to the mouth, and lateral reaching movements...
June 13, 2016: European Journal of Translational Myology
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
#17
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.
February 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/27790405/trans-radial-carotid-artery-stenting-in-a-patient-with-abdominal-aortic-occlusion
#18
Jin Heon Ha, Hoon Kim, Ik Seong Park, Seong-Rim Kim
We report transradial access (TRA) for emergency carotid artery stenting (CAS) as a useful alternative when the femoral artery cannot be accessed. A 63-year-old man arrived at our emergency room 30 minutes after left hemiplegia and loss of consciousness. Brain computed tomography (CT) anigograpy showed occlusion of the right interntal carotid artery (ICA) and CT perfusion revealed delayed time-to-peak in the territory of the middle cerebral artery. For, endovascular treatment, trans-femoral access (TFA) was attempted but failed due to occlusion of the abdominal aorta...
June 2016: Journal of Cerebrovascular and Endovascular Neurosurgery
https://www.readbyqxmd.com/read/27726050/mosaicism-in-atp1a3-related-disorders-not-just-a-theoretical-risk
#19
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27676798/ultrasound-guided-injection-of-botulinum-toxin-in-upper-limb-experience-of-pmr-departement
#20
Samira Lahrabli, Herman Azanmasso, Fatima Lmidmani, Abdellatif El Fatimi
OBJECTIVE: Spasticity of the upper limb is a disabling symptom in patients with vascular hemiplegia, both functionally and orthopedic evolution of these patients. Many treatments exist for spasticity, and botulinum toxin may be an attractive therapeutic alternative, to fight against the often deleterious spasticity. MATERIAL/PATIENTS AND METHODS: We report a retrospective work of 10 spastic patients treated with ultrasound-guided injection of botulinum toxin into the MPR Casablanca service...
September 2016: Annals of Physical and Rehabilitation Medicine
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