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https://www.readbyqxmd.com/read/29036832/neuropathological-comparison-of-adult-onset-and-juvenile-huntington-s-disease-with-cerebellar-atrophy-a-report-of%C3%A2-a%C3%A2-father-and-son
#1
Caitlin S Latimer, Margaret E Flanagan, Patrick J Cimino, Suman Jayadev, Marie Davis, Zachary S Hoffer, Thomas J Montine, Luis F Gonzalez-Cuyar, Thomas D Bird, C Dirk Keene
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline...
October 11, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29033892/molecular-diagnosis-of-myoclonus-epilepsy-associated-with-ragged-red-fibers-syndrome-in-the-absence-of-ragged-red-fibers
#2
Sun Yeong Park, Se Hoon Kim, Young-Mock Lee
Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29032013/the-presence-of-depression-and-anxiety-do-not-distinguish-between-functional-jerks-and-cortical-myoclonus
#3
R Zutt, J M Gelauff, M Smit, J C van Zijl, J Stone, M A J Tijssen
INTRODUCTION: Functional movement disorders are accompanied by a high occurrence of psychopathology and cause serious impairments in quality of life. However, little is known about this in patients with functional jerks and no comparison has been made between patients with functional jerks and organic myoclonus. This case control study compares the occurrence of depression, anxiety and quality of life (HR-QoL) in patients with functional jerks and cortical myoclonus. METHODS: Patients with functional jerks and cortical myoclonus, consecutively recruited, were compared on self-rated anxiety (Beck Anxiety Inventory), depression (Beck Depression Inventory), health-related quality of life (RAND-36), and myoclonus severity (UMRS and CGI-S rating scales)...
September 29, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29031759/periodic-neck-myoclonus-during-sleep
#4
L Pérez-Carbonell, C Silva, C Gaig, M Carreño, J Santamaria, A Iranzo
No abstract text is available yet for this article.
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29017268/the-spectrum-and-burden-of-influenza-associated-neurological-disease-in-children-combined-encephalitis-and-influenza-sentinel-site-surveillance-from-australia-2013-2015
#5
Philip N Britton, Christopher C Blyth, Kristine Macartney, Russell C Dale, Jean Li-Kim-Moy, Gulam Khandaker, Nigel W Crawford, Helen Marshall, Julia E Clark, Elizabeth J Elliott, Robert Booy, Allen C Cheng, Cheryl A Jones
Background: There are few longitudinal studies of seasonal influenza-associated neurological disease (IAND) and none from the Southern Hemisphere. Methods: We extracted prospectively acquired Australian surveillance data from 2 studies nested within the Paediatric Active Enhanced Disease Surveillance (PAEDS) network: the Influenza Complications Alert Network (FluCAN) study and the Australian Childhood Encephalitis (ACE) study between 2013 and 2015. We described the clinical features and severity of IAND in children, including influenza-associated encephalitis/encephalopathy (IAE)...
August 15, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28991699/microglial-macrophage-markers-chi3l1-scd14-and-scd163-in-csf-and-serum-of-pediatric-inflammatory-and-non-inflammatory-neurological-disorders-a-case-control-study-and-reference-ranges
#6
Michael R Pranzatelli, Elizabeth D Tate, Nathan R McGee
OBJECTIVE: To assess the role of microglia and macrophages in neuroinflammatory disorders in children via biomarkers, and establish control reference ranges. METHODS: In an IRB-approved case-control study of 98 children, the concentrations of CSF/serum CHI3L1, sCD14, and sCD163 were measured by ELISA. Groups were controls (non-inflammatory neurological disorders, NIND, n=37), opsoclonus-myoclonus syndrome (OMS, n=37), and other inflammatory neurological disorders (OIND, n=24)...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28984246/the-role-of-eeg-in-the-diagnosis-and-classification-of-the-epilepsy-syndromes-a-tool-for-clinical-practice-by-the-ilae-neurophysiology-task-force-part-1
#7
Michalis Koutroumanidis, Alexis Arzimanoglou, Roberto Caraballo, Sushma Goyal, Anna Kaminska, Pramote Laoprasert, Hirokazu Oguni, Guido Rubboli, William Tatum, Pierre Thomas, Eugen Trinka, Luca Vignatelli, Solomon L Moshé
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro-clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures...
October 6, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28983422/speech-language-pathology-evaluation-and-management-of-hyperkinetic-disorders-affecting-speech-and-swallowing-function
#8
REVIEW
Julie M Barkmeier-Kraemer, Heather M Clark
BACKGROUND: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech-language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations. METHODS: A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28982678/functional-assays-for-the-assessment-of-the-pathogenicity-of-variants-in-gosr2-an-er-to-golgi-snare-involved-in-progressive-myoclonus-epilepsies
#9
Jörn M Völker, Mykola Dergai, Luciano A Abriata, Yves Mingard, Daniel Ysselstein, Dimitri Krainc, Matteo Dal Peraro, Gabriele Fischer von Mollard, Dirk Fasshauer, Judith Koliwer, Michael Schwake
Progressive myoclonus epilepsies (PME) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that are associated with PME is the ER-to-Golgi Qb-SNARE GOSR2, which forms a SNARE complex with Syntaxin5, Bet1 and Sec22b. Most PME patients are homo-zygous for a p.Gly144Trp mutation and develop similar clinical presentations. Recently, a patient who was compound heterozygous for the p.Gly144Trp and a novel p.Lys164del mutation was identified. Since this patient presented with a milder disease phenotype, we hypothesized that the p...
October 5, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28978487/mutations-in-membrin-gosr2-reveal-stringent-secretory-pathway-demands-of-dendritic-growth-and-synaptic-integrity
#10
Roman Praschberger, Simon A Lowe, Nancy T Malintan, Carlo N G Giachello, Nian Patel, Henry Houlden, Dimitri M Kullmann, Richard A Baines, Maria M Usowicz, Shyam S Krishnakumar, James J L Hodge, James E Rothman, James E C Jepson
Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). Membrin is a ubiquitous and essential protein mediating ER-to-Golgi membrane fusion. Thus, it is unclear how mutations in Membrin result in a disorder restricted to the nervous system. Here, we use a multi-layered strategy to elucidate the consequences of Membrin mutations from protein to neuron. We show that the pathogenic mutations cause partial reductions in SNARE-mediated membrane fusion...
October 3, 2017: Cell Reports
https://www.readbyqxmd.com/read/28975137/rapid-resolution-of-enterovirus-71-associated-opsoclonus-myoclonus-syndrome-on-intravenous-immunoglobulin
#11
Ahmed Sahly, Laurence Gauquelin, Guillaume Sébire
Nonparaneoplastic opsoclonus-myoclonus ataxia syndrome is a rare neuroinflammatory condition featured by opsoclonus, myoclonus, ataxia, and cognitive behavioral disturbance. The authors report an observation of enterovirus 71-associated opsoclonus-myoclonus ataxia syndrome evolving toward full recovery on intravenous intravenous immunoglobulin (IG) treatment. Based on this case report, enterovirus 71 should be added to the list of infectious agents likely involved in opsoclonus-myoclonus ataxia syndrome, including the emerging subgroup of opsoclonus-myoclonus ataxia syndrome recovering without aggressive or prolonged immunosuppressive intervention...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28975050/negative-myoclonus-induced-by-ciprofloxacin
#12
Anusha van Samkar, Floriaan G C M De Kleermaeker, Margot G E Te Riele, Aad Verrips
BACKGROUND: Negative myoclonus is characterized by a brief sudden loss of muscle activity, and can be caused by a variety of acquired factors and epilepsy syndromes. PHENOMENOLOGY SHOWN: We show a clear video example of a patient with an extensive negative myoclonus that was induced by ciprofloxacin. EDUCATIONAL VALUE: Several neurotoxic effects have been associated with the use of ciprofloxacin, but negative myoclonus has not been reported previously...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28971571/clinicopathological-features-of-neuroblastic-tumors-with-opsoclonus-myoclonus-ataxia-syndrome-follicular-structure-predicts-a-better-neurological-outcome
#13
Hiroko Fukushima, Takeshi Inoue, Yuichi Takama, Naomi Ishii, Takahiro Okuno, Yasutsugu Kobayashi, Akihiro Yoneda, Tetsuro Nakamura, Ichiro Kuki, Junichi Hara
Neuroblastic tumors (NT) with opsoclonus-myoclonus syndrome (OMS) display characteristic histological features, such as lymphocytic infiltration with lymphoid follicles, indicating an underlying immune response. We retrospectively assessed NT patients from 2001 to 2016. Five cases of NT with OMS and 76 cases of NT without OMS were histopathologically reviewed in this study. The grade of lymphocytic infiltration was evaluated. The number of follicles was counted and the presence or absence of lymphoid follicles was recorded for each case...
October 2017: Pathology International
https://www.readbyqxmd.com/read/28971144/autosomal-recessive-inheritance-of-adcy5-related-generalized-dystonia-and-myoclonus
#14
Matthew J Barrett, Eli S Williams, Chelsea Chambers, Radhika Dhamija
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28967629/mutations-in-aifm1-cause-an-x-linked-childhood-cerebellar-ataxia-partially-responsive-to-riboflavin
#15
G Heimer, E Eyal, X Zhu, E K Ruzzo, D Marek-Yagel, Doron Sagiv, Y Anikster, H Reznik-Wolf, E Pras, D Oz Levi, D Lancet, B Ben-Zeev, A Nissenkorn
BACKGROUND: AIFM1 encodes a mitochondrial flavoprotein with a dual role (NADH oxidoreductase and regulator of apoptosis), which uses riboflavin as a cofactor. Mutations in the X-linked AIFM1 were reported in relation to two main phenotypes: a severe infantile mitochondrial encephalomyopathy and an early-onset axonal sensorimotor neuropathy with hearing loss. In this paper we report two unrelated males harboring AIFM1 mutations (one of which is novel) who display distinct phenotypes including progressive ataxia which partially improved with riboflavin treatment...
September 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28966876/the-inter-rater-variability-of-clinical-assessment-in-post-anoxic-myoclonus
#16
Jonathan C van Zijl, Martijn Beudel, Jan-Willem J Elting, Bauke M de Jong, Joukje van der Naalt, Walter M van den Bergh, Andrea O Rossetti, Marina A J Tijssen, Janneke Horn
BACKGROUND: Acute post-anoxic myoclonus (PAM) can be divided into an unfavorable (generalized/subcortical) and more favorable ((multi)focal/cortical) outcome group that could support prognostication in post-anoxic encephalopathy; however, the inter-rater variability of clinically assessing these PAM subtypes is unknown. METHODS: We prospectively examined PAM patients using a standardized video protocol. Videos were rated by three neurologists who classified PAM phenotype (generalized/(multi)focal), stimulus sensitivity, localization (proximal/distal/both), and severity (Clinical Global Impression-Severity Scale (CGI-S) and Unified Myoclonus Rating Scale (UMRS))...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28966590/tubb2b-mutation-in-an-adult-patient-with-myoclonus-dystonia
#17
Joshua T Geiger, Alice B Schindler, Cornelis Blauwendraat, Harvey S Singer, Sonja W Scholz
BACKGROUND: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current understanding of the clinical spectrum of tubulinopathies is predominantly based on research in fetal tissue and early-childhood cases. METHODS: Testing of candidate genes followed by whole-exome sequencing was performed in an adult woman with a neurodevelopmental, hyperkinetic movement disorder, to identify the underlying genetic cause...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28959231/demographic-clinical-and-immunologic-features-of-389-children-with-opsoclonus-myoclonus-syndrome-a-cross-sectional-study
#18
Michael R Pranzatelli, Elizabeth D Tate, Nathan R McGee
Pediatric-onset opsoclonus-myoclonus syndrome (OMS) is a devastating neuroinflammatory, often paraneoplastic, disorder. The objective was to characterize demographic, clinical, and immunologic aspects in the largest cohort reported to date. Cross-sectional data were collected on 389 children in an IRB-approved, observational study at the National Pediatric Myoclonus Center. Non-parametric statistical analysis was used. OMS manifested in major racial/ethnic groups, paralleling US population densities. Median onset age was 1...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28951498/clinical-and-immunological-characteristics-of-the-spectrum-of-gfap-autoimmunity-a-case-series-of-22-patients
#19
Raffaele Iorio, Valentina Damato, Amelia Evoli, Marco Gessi, Simona Gaudino, Vincenzo Di Lazzaro, Gregorio Spagni, Jacqueline A Sluijs, Elly M Hol
OBJECTIVE: To report the clinical and immunological characteristics of 22 new patients with glial fibrillar acidic protein (GFAP) autoantibodies. METHODS: From January 2012 to March 2017, we recruited 451 patients with suspected neurological autoimmune disease at the Catholic University of Rome. Patients' serum and cerebrospinal fluid (CSF) samples were tested for neural autoantibodies by immunohistochemistry on mouse and rat brain sections, by cell-based assays (CBA) and immunoblot...
September 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28943562/ceftriaxone-induced-neurotoxicity-in-a-patient-after-pancreas-kidney-transplantation
#20
Hideharu Hagiya, Koji Miyawaki, Norihisa Yamamoto, Hisao Yoshida, Akihiro Kitagawa, Tadafumi Asaoka, Hidetoshi Eguchi, Yukihiro Akeda, Kazunori Tomono
Ceftriaxone is a widely used third-generation cephalosporin showing advantageous pharmacokinetic properties and a broad antimicrobial spectrum. We herein report a case of ceftriaxone-induced neurotoxicity in a 56-year-old man on hemodialysis. Seven days after initiating high-dose ceftriaxone, the patient developed impaired consciousness along with facial myoclonus and sporadic phonation. The symptoms clearly disappeared shortly after withdrawal of the drug. Ceftriaxone is considered a safe antibiotic for patients with renal insufficiency, since it is excreted via both haptic and renal pathways...
September 25, 2017: Internal Medicine
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