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https://www.readbyqxmd.com/read/29037336/neuropsychiatry-towards-a-philosophy-of-praxis
#1
Jesús Ramirez-Bermudez, Rodrigo Perez-Esparza, Luis Carlos Aguilar-Venegas, Perminder Sachdev
Neuropsychiatry is a specialized clinical, academic and scientific discipline with its field located in the borderland territory between neurology and psychiatry. In this article, we approach the theoretical definition of neuropsychiatry, and in order to address the practical aspects of the discipline, we describe the profile of a neuropsychiatric liaison service in the setting of a large hospital for neurological diseases in a middle-income country. An audit of consecutive in-patients requiring neuropsychiatric assessment at the National Institute of Neurology and Neurosurgery of Mexico is reported, comprising a total of 1212 patients...
October 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/28758966/variability-of-creatine-metabolism-genes-in-children-with-autism-spectrum-disorder
#2
Jessie M Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer, Alvin Loh, Andreas Schulze
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism...
July 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28168129/a-quandary-of-cuprum-wilson-s-disease-disguising-as-progressive-myoclonic-epilepsy
#3
Monika Sachan, Suman Kushwaha, Shah Faisal Ahmad Tarfarosh, Vineet Banga, Ashutosh Gupta
Although metals are indispensable for the production of articles in our daily usage, the deposition of these metals in human tissue is known to cause disease. However, it is not always the ingestion of abnormal amounts of lead, iron, or copper that makes our tissues morbid; our hereditary and metabolic issues are to be blamed as well. Wilson's disease is one such hereditary disease that creates chaos in tissues, usually the brain and liver, via deposition of abnormal amounts of copper in them. While Wilson's disease almost seems to bring a picture of a young patient with dystonia and other extrapyramidal symptoms in our imagination, seizures are very uncommon in this disorder...
January 1, 2017: Curēus
https://www.readbyqxmd.com/read/27930511/four-year-follow-up-of-a-wilson-disease-pedigree-complicated-with-epilepsy-and-hypopituitarism-case-report-with-a-literature-review
#4
REVIEW
Qi-Jie Zhang, Liu-Qing Xu, Chong Wang, Wei Hu, Ning Wang, Wan-Jin Chen
RATIONALE: Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. PATIENT CONCERNS: The patient was a 17-year-old and 136-cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27767931/early-growth-and-neurologic-outcomes-of-infants-with-probable-congenital-zika-virus-syndrome
#5
Antonio Augusto Moura da Silva, Jucelia Sousa Santos Ganz, Patricia da Silva Sousa, Maria Juliana Rodvalho Doriqui, Marizelia Rodrigues Costa Ribeiro, Maria Dos Remédios Freitas Carvalho Branco, Rejane Christine de Sousa Queiroz, Maria de Jesus Torres Pacheco, Flavia Regina Vieira da Costa, Francelena de Sousa Silva, Vanda Maria Ferreira Simões, Marcos Antonio Barbosa Pacheco, Fernando Lamy-Filho, Zeni Carvalho Lamy, Maria Teresa Seabra Soares de Britto E Alves
We report the early growth and neurologic findings of 48 infants in Brazil diagnosed with probable congenital Zika virus syndrome and followed to age 1-8 months. Most of these infants had microcephaly (86.7%) and craniofacial disproportion (95.8%). The clinical pattern included poor head growth with increasingly negative z-scores, pyramidal/extrapyramidal symptoms, and epilepsy.
November 2016: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/27240053/-symptoms-of-obsessive-compulsive-disorder-in-neurological-diseases
#6
M A Kutlubaev
Obsessive-compulsive disorder (OCD) is a common form of neurosis. Symptoms of OCD could develop as a sign of focal brain lesion, particularly in multiple sclerosis, extrapyramidal disorders, epilepsy, less frequently - in other diseases. Timely diagnosis and treatment of the symptoms of OCD is an important aspect in the management of mentioned neurological disorders.
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/26966048/pharmacotherapy-for-dravet-syndrome
#7
REVIEW
Adam Wallace, Elaine Wirrell, Daniel L Kenney-Jung
Dravet syndrome (DS) is an intractable pediatric epilepsy syndrome, starting in early childhood. This disorder typically manifests with febrile status epilepticus, and progresses to a multifocal epilepsy with febrile and non-febrile seizures with encephalopathy. Most cases are due to a mutation in the SCN1A gene. This article reviews treatments for DS, with an emphasis on pharmacotherapy. While many medications are used in treating the seizures associated with DS, these patients typically have medically refractory epilepsy, and polytherapy is often required...
June 2016: Paediatric Drugs
https://www.readbyqxmd.com/read/26865513/stxbp1-encephalopathy-a-neurodevelopmental-disorder-including-epilepsy
#8
REVIEW
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrée, Robertino Dilena, Corrie E Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L Helbig, Henrike O Heyne, Joerg Klepper, Gerhard J Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Sterbova, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Helene Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R Lemke, Rikke S Møller, Sarah Weckhuysen
OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. RESULTS: We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 mutations...
March 8, 2016: Neurology
https://www.readbyqxmd.com/read/26708103/parkinsonism-in-adult-onset-rasmussens-s-encephalitis-a-clinical-picture-presenting-as-corticobasal-syndrome
#9
Leonilda Bilo, Silvio Peluso, Antonella Antenora, Anna De Rosa, Marcello Esposito, Stefano Barbato, Sabina Pappatà, Giuseppe De Michele
Rasmussen's encephalitis (RE) is an immune-mediated disease, typically affecting a single cerebral hemisphere. Intractable epilepsy, hemiplegia and cognitive decline represent the clinical features; movement disorders have rarely been described. We report a case of adult-onset RE which developed hemiparkinsonism after an extraordinarily long prodromal period; to date, this is the first description of parkinsonism in RE. The association between cortical symptoms and extrapyramidal features evokes a clinical suspect of corticobasal syndrome (CBS); our patient satisfies the diagnostic criteria for possible CBS...
December 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/26535436/-valproate-can-induce-reversible-encephalopathy
#10
Sivagini Prakash, Thomas Harbo, Jakob Christensen
Valproate (VPA) is a widely used antiepileptic drug – also in the elderly. A female patient was diagnosed with epilepsy at the age 60 of years and treated with VPA for 16 years before developing tremor, rigidity, cognitive impairment and descending consciousness progressing to coma. After discontinuation of VPA she regained full consciousness, could talk and feed herself. The extrapyramidal and cognitive symptoms completely subsided during the following months. VPA-induced encephalopathy is an uncommon but serious adverse effect that should be considered in patients with cognitive decline during VPA treatment...
May 11, 2015: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/26497564/brain-dopamine-serotonin-vesicular-transport-disease-presenting-as-a-severe-infantile-hypotonic-parkinsonian-disorder
#11
Jessie C Jacobsen, Callum Wilson, Vicki Cunningham, Emma Glamuzina, Debra O Prosser, Donald R Love, Trent Burgess, Juliet Taylor, Brendan Swan, Rosamund Hill, Stephen P Robertson, Russell G Snell, Klaus Lehnert
Two male siblings from a consanguineous union presented in early infancy with marked truncal hypotonia, a general paucity of movement, extrapyramidal signs and cognitive delay. By mid-childhood they had made little developmental progress and remained severely hypotonic and bradykinetic. They developed epilepsy and had problems with autonomic dysfunction and oculogyric crises. They had a number of orthopaedic problems secondary to their hypotonia. Cerebrospinal fluid (CSF) neurotransmitters were initially normal, apart from mildly elevated 5-hydroxyindolacetic acid, and the children did not respond favourably to a trial of levodopa-carbidopa...
March 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/26115733/electroclinical-spectrum-of-the-neuronal-ceroid-lipofuscinoses-associated-with-cln6-mutations
#12
Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, Simona Binelli, Vidmer Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F Berkovic, Silvana Franceschetti
OBJECTIVES: To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations. METHODS: We reviewed the features of 11 patients with different ages at onset. RESULTS: Clinical disease onset occurred within the first decade of life in 8 patients and in the second and third decades in 3. All children presented with progressive cognitive regression associated with ataxia and pyramidal and extrapyramidal signs...
July 28, 2015: Neurology
https://www.readbyqxmd.com/read/26048982/recessive-deaf1-mutation-associates-with-autism-intellectual-disability-basal-ganglia-dysfunction-and-epilepsy
#13
Anna Rajab, Markus Schuelke, Esther Gill, Angelika Zwirner, Franziska Seifert, Susanne Morales Gonzalez, Ellen Knierim
BACKGROUND: Various genetic defects cause autism associated with intellectual disability and epilepsy. Here, we set out to identify the genetic defect in a consanguineous Omani family with three affected children in whom mutations in known candidate genes had been excluded beforehand. METHODS: For mutation screening, we combined autozygosity mapping and whole exome sequencing. Segregation of potential disease variants with the phenotype was verified by Sanger sequencing...
September 2015: Journal of Medical Genetics
https://www.readbyqxmd.com/read/25817015/loss-of-function-alanyl-trna-synthetase-mutations-cause-an-autosomal-recessive-early-onset-epileptic-encephalopathy-with-persistent-myelination-defect
#14
Cas Simons, Laurie B Griffin, Guy Helman, Gretchen Golas, Amy Pizzino, Miriam Bloom, Jennifer L P Murphy, Joanna Crawford, Sarah H Evans, Scott Topper, Matthew T Whitehead, John M Schreiber, Kimberly A Chapman, Cyndi Tifft, Katrina B Lu, Howard Gamper, Megumi Shigematsu, Ryan J Taft, Anthony Antonellis, Ya-Ming Hou, Adeline Vanderver
Mutations in genes encoding aminoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies-heritable disorders that result in white matter abnormalities in the central nervous system. Here we report three individuals (two siblings and an unrelated individual) with severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination on MRI. Analysis by whole exome sequencing identified mutations in the nuclear-encoded alanyl-tRNA synthetase (AARS) in these two unrelated families: the two affected siblings are compound heterozygous for p...
April 2, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/25667850/vagus-nerve-stimulation-in-lafora-body-disease
#15
Sanja Hajnsek, Zeljka Petelin Gadze, Fran Borovecki, Sibila Nankovic, Goran Mrak, Kristina Gotovac, Vlatko Sulentic, Ivana Kovacevic, Andreja Bujan Kovac
INTRODUCTION: Lafora body disease (LBD) is a rare autosomal recessive disorder characterized by progression to inexorable dementia and frequent occipital seizures, in addition to myoclonus and generalized tonic-clonic seizures (GTCSs). It belongs to the group of progressive myoclonus epilepsies (PMEs), rare inherited neurodegenerative diseases with great clinical and genetic differences, as well as poor prognosis. Since those patients have a pharmacoresistant disease, an adjunctive treatment option is vagus nerve stimulation (VNS)...
2013: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/25514185/phenotypic-features-of-children-with-neurodevelopmental-diseases-in-relation-to-biogenic-amines
#16
Krystyna Szymańska, Katarzyna Kuśmierska, Maria Nowacka, Jolanta Sykut-Cegielska, Urszula Demkow
Disruption of monoamines metabolism leads to diverse manifestations, including developmental, movement and respiratory dysfunctions. We aimed to correlate clinical phenotypes of 55 children with neurodevelopmental disorders with dopamine (HVA) and serotonin (5-HIIA) metabolites in CSF. Decreased level of at least one metabolite was documented in 49.1% patients. Both metabolites were significantly lower in progressive disorder and extrapyramidal syndrome (p<0.05). HVA was significantly lower in hypokinetic and regulatory disorders (p<0...
April 2015: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/25394838/-valproate-can-induce-reversible-encephalopathy
#17
Sivagini Prakash, Thomas Harbo, Jakob Christensen
Valproate (VPA) is a widely used antiepileptic drug - also in the elderly. A female patient was diagnosed with epilepsy at the age of 60 years and treated with VPA for 16 years before developing tremor, rigidity, cognitive impairment and descending consciousness progressing to coma. After discontinuation of VPA she regained full consciousness, could talk and feed herself. The extrapyramidal and cognitive symptoms completely subsided during the following months. VPA-induced encephalopathy is an uncommon but serious adverse effect that should be considered in patients with cognitive decline during VPA treatment...
November 3, 2014: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/25192512/cerebral-creatine-deficiencies-a-group-of-treatable-intellectual-developmental-disorders
#18
REVIEW
Sylvia Stockler-Ipsiroglu, Clara D M van Karnebeek
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus...
July 2014: Seminars in Neurology
https://www.readbyqxmd.com/read/25023977/efficacy-and-safety-of-cinnarizine-in-the-prophylaxis-of-migraine-in-children-a-double-blind-placebo-controlled-randomized-trial
#19
RANDOMIZED CONTROLLED TRIAL
Mahmoud Reza Ashrafi, Soodeh Salehi, Reza Azizi Malamiri, Morteza Heidari, Seyed Ahmad Hosseini, Mahboubeh Samiei, Ali Reza Tavasoli, Mansoureh Togha
BACKGROUND: In spite of the high occurrence of migraine headaches in school-age children, there are currently no approved and widely accepted pharmacologic agents for migraine prophylaxis in children. Our previous open-label study in children revealed the efficacy of cinnarizine, a calcium channel blocker, in migraine prophylaxis. A placebo-controlled trial was conducted to demonstrate the efficacy and safety of cinnarizine in the prophylaxis of migraine in children. TRIAL DESIGN: A double-blind, placebo-controlled, parallel-group study conducted in a tertiary medical center in Tehran, Iran...
October 2014: Pediatric Neurology
https://www.readbyqxmd.com/read/24833714/overlapping-phenotypes-in-complex-spastic-paraplegias-spg11-spg15-spg35-and-spg48
#20
Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, Claudia Ciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli, Isabella Moroni, Paola Soliveri, Elena Lamperti, Luisa Chiapparini, Daniela Di Bella, Franco Taroni, Caterina Mariotti
Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders, clinically classified in pure and complex forms. Genetically, more than 70 different forms of spastic paraplegias have been characterized. A subgroup of complicate recessive forms has been distinguished for the presence of thin corpus callosum and white matter lesions at brain imaging. This group includes several genetic entities, but most of the cases are caused by mutations in the KIAA1840 (SPG11) and ZFYVE26 genes (SPG15)...
July 2014: Brain: a Journal of Neurology
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