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Myoclonus

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https://www.readbyqxmd.com/read/29438032/teaching-video-neuroimages-delayed-hemibody-myorhythmia-and-palatal-myoclonus-after-vertebrobasilar-stroke
#1
Luísa Panadés-de Oliveira, Antonio Méndez-Guerrero, Roberto López-Blanco, Elena Salvador Álvarez, Juan Ruiz Morales, Jesús González de la Aleja
No abstract text is available yet for this article.
February 6, 2018: Neurology
https://www.readbyqxmd.com/read/29436738/ataxia-telangiectasia-a-review-of-movement-disorders-clinical-features-and-genotype-correlations
#2
REVIEW
Ariel Levy, Anthony E Lang
Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum of the condition has expanded. This review elaborates the expanded phenomenology, including oculomotor apraxia and immunodeficiency, and estimates the presence of each movement disorder feature from previously reported literature. Initial manifestations of Ataxia-telangiectasia include cerebellar symptoms (67%), dystonia (18%), choreoathetosis (10%), and tremor (4%), with parkinsonism and myoclonus not reported as initial features...
February 13, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29429788/novel-sgce-mutation-in-a-patient-with-myoclonus-dystonia-syndrome-diagnostic-delay-of-more-than-40%C3%A2-years
#3
Dorothee Kübler, Friederike Borngräber, Katja Lohmann, Andrea A Kühn
We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was suffering from predominant psychiatric comorbidities it took more than 40 years from the first manifestation of the disease until the diagnosis. Having detected the genetically proven cause for his motor and non-motor symptoms was an enormous relief to our patient. We want to share this instructive case in order to prompt neurologists and psychiatrists to look closely at both movement disorders and neuropsychiatric signs in order to diagnose and treat patients to the latest standard...
February 8, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29429257/-clinical-features-and-gene-analysis-of-tbc1d24-gene-mutation-related-early-onset-focal-myoclonic-epilepsy
#4
X R Leng, J Ye, Q L Zhou, X H Qi, Y H Dong, L P Zhang, Y F Zhang, Y P Wang, L P Li, Y C Lin
Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy. Methods: Clinical data of 3 patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy of Xuanwu Hospital from November 2016 to June 2017 was collected and analyzed.Candidate gene mutations were screened by second generation sequencing. Results: Among the 3 patients, 1 was male and 2 were females.Seizure onset age was 4 months, 3 years and 5 years after birth respectively...
February 6, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29428275/familial-cases-of-progressive-myoclonic-epilepsy-caused-by-maternal-somatic-mosaicism-of-a-recurrent-kcnc1-p-arg320his-mutation
#5
Hyuna Kim, Sangmoon Lee, Murim Choi, Hunmin Kim, Hee Hwang, JiEun Choi, Jong Hee Chae, Ki Joong Kim, Byung Chan Lim
PURPOSE: A recurrent de novo mutation in KCNC1 (c.959G > A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy (PME). The clinical phenotype resulting from this mutation has been named as myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). This finding carries important clinical implications in that autosomal dominant inheritance and de novo occurrence need to be considered when conducting genetic tests in patients with PME...
February 8, 2018: Brain & Development
https://www.readbyqxmd.com/read/29423336/myoclonic-jerks-exposure-to-many-cats-and-neurotoxoplasmosis-in-an-immunocompetent-male
#6
Antonio Jose Reyes, Kanterpersad Ramcharan, Stanley Lawrence Giddings, Samuel Aboh, Fidel Rampersad
Background: Myoclonic jerks are due to sudden, brief, involuntary muscle contractions, positive myoclonus, or brief cessation of ongoing muscular activity, negative myoclonus, and may be difficult to recognize. Case Report: We describe an immunocompetent, adult, male patient with sleep-related, multifocal, myoclonic jerks and neurotoxoplasmosis with abnormal cerebrospinal fluid but normal brain imaging. There was complete resolution of the myoclonus with antitoxoplasmosis therapy after 1 week, and no relapse after 1 year...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29416935/familial-cortical-myoclonic-tremor-and-epilepsy-an-enigmatic-disorder-from-phenotypes-to-pathophysiology-and-genetics-a-systematic-review
#7
REVIEW
Tom van den Ende, Sarvi Sharifi, Sandra M A van der Salm, Anne-Fleur van Rootselaar
Background: Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings. Methods: We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29408991/astrocytes-new-players-in-progressive-myoclonus-epilepsy-of-lafora-type
#8
Carla Rubio-Villena, Rosa Viana, Jose Bonet, Maria Adelaida Garcia-Gimeno, Marta Casado, Miguel Heredia, Pascual Sanz
Lafora disease (LD) is a fatal form of progressive myoclonus epilepsy characterized by the accumulation of insoluble poorly branched glycogen-like inclusions named Lafora bodies (LBs) in the brain and peripheral tissues. In the brain, since its first discovery in 1911, it was assumed that these glycogen inclusions were only present in affected neurons. Mouse models of LD have been obtained recently, and we and others have been able to report the accumulation of glycogen inclusions in the brain of LD animals, what recapitulates the hallmark of the disease...
February 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29406902/autoimmune-and-paraneoplastic-movement-disorders-an-update
#9
REVIEW
José Fidel Baizabal-Carvallo, Joseph Jankovic
Movement disorders (MDs) are common in patients with autoimmune disorders affecting the central and peripheral nervous system. They may be observed in autoimmune disorders triggered by an infectious agent, such as streptococcus in Sydenham's chorea, or in basal ganglia encephalitis with antibodies against the dopamine-D2 receptors. In these patients chorea or dystonia are usually the most prominent hyperkinetic MDs. MDs are also observed in patients with diffuse or limbic encephalitis with antibodies directed against neuronal cell-surface antigens...
February 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29396360/effect-of-repetitive-transcranial-magnetic-stimulation-on-action-myoclonus-a-pilot-study-in-patients-with-epm1
#10
Davide Rossi Sebastiano, Adriana Magaudda, Angelo Quartarone, Teresa Brizzi, Elisa Visani, Giuseppe Capovilla, Francesca Beccaria, Paola Anversa, Silvana Franceschetti, Laura Canafoglia
OBJECTIVE: The objective of this study was to explore the short-term effects of repetitive transcranial magnetic stimulation (rTMS) on action myoclonus. METHODS: Nine patients with Unverricht-Lundborg (EPM1) progressive myoclonus epilepsy type underwent two series of 500 stimuli at 0.3Hz through round coil twice a day for five consecutive days. Clinical and neurophysiological examinations were performed two hours before starting the first rTMS session and two hours after the end of the last rTMS session...
January 21, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29382617/hypertrophic-olivary-degeneration-neurosurgical-perspective-and-literature-review
#11
Mehmet Resid Onen, Kelli Moore, Ulas Cikla, Melih Ucer, Bradley Schmidt, Aaron S Field, Mustafa K Baskaya
INTRODUCTION: Hypertrophic olivary degeneration (HOD) occurs as a result of posterior fossa or brainstem lesions that disrupt the dentato-rubro-olivary tract, well known as the Guillain-Mollaret triangle. Clinical and radiological hallmarks of this condition are palatal myoclonus and T2 hyperintensity of the inferior olivary complex on MRI, respectively. Since symptomatic HOD may complicate the recovery of patients with posterior fossa or brainstem lesions, the purpose of this study is to evaluate clinical and imaging findings of patients with HOD...
January 27, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29376112/intravenous-immunoglobulin-with-prednisone-and-risk-adapted-chemotherapy-for-children-with-opsoclonus-myoclonus-ataxia-syndrome-associated-with-neuroblastoma-anbl00p3-a-randomised-open-label-phase-3-trial
#12
Pedro A de Alarcon, Katherine K Matthay, Wendy B London, Arlene Naranjo, Sheena C Tenney, Jessica A Panzer, Michael D Hogarty, Julie R Park, John M Maris, Susan L Cohn
Purpose: No previous clinical trial has been conducted for patients with neuroblastoma associated opsoclonus myoclonus ataxia syndrome (OMA), and current treatment is based on case reports. To evaluate the OMA response to prednisone and risk-adapted chemotherapy and determine if the addition of intravenous gammaglobulin (IVIG) further improves response, the Children's Oncology Group designed a randomized therapeutic trial. Patient and Methods: Eligible subjects were randomized to receive twelve cycles of IVIG (IVIG+) or no IVIG (NO-IVIG) in addition to prednisone and neuroblastoma risk-adapted chemotherapy...
January 2018: Lancet Child & Adolescent Health
https://www.readbyqxmd.com/read/29367224/the-effect-of-a-therapeutic-lithium-level-on-a-stroke-related-cerebellar-tremor
#13
Rachel A Orleans, Marc J Dubin, Kristopher A Kast
Lithium is a mood stabiliser used in the treatment of acute mania, bipolar disorder and as augmentation for unipolar major depression. Tremor is a common adverse effect associated with lithium at both therapeutic and toxic serum levels. We present a case of dose-dependent changes in the quality and intensity of a stroke-related, chronic cerebellar tremor with lithium treatment at serum levels within the therapeutic range. On admission, the patient in this case had a baseline fine, postural tremor, which increased in frequency and evolved to include myoclonic jerks once lithium therapy was initiated...
January 24, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29366919/treatment-of-post-anoxic-action-myoclonus-with-intrathecal-baclofen-a-case-report
#14
James A Whitlock, Ryan W Dumigan
A case of severe action myoclonus following pulmonary arrest is described. Although there was benefit from oral pharmacotherapy, action myoclonus remained disabling. A favorable response to baclofen during an intrathecal trial led to eventual placement of an intrathecal baclofen pump. The present case illustrates the potential utility of intrathecal baclofen for treating this condition.
January 20, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29366536/transient-benign-paroxysmal-movement-disorders-in-infancy
#15
REVIEW
Emilio Fernández-Alvarez
This review summarizes the current empirical and clinical literature on benign paroxysmal movement disorders in infancy most relevant to practitioners. Paroxysmal benign movement disorders are a heterogeneous group of movement disorders characterized by their favourable outcome. We pay special attention to the recognition and management of these abnormal motor conditions strongly suggestive of epileptic disorders. They include: neonatal jitteriness; benign neonatal sleep myoclonus; benign paroxysmal tonic upgaze; paroxysmal tonic downgaze, benign paroxysmal torticollis and benign polymorphous movement disorder of infancy...
January 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29364803/lead-poisoning-myoclonus-following-welding-exposure
#16
Rubens Gisbert Cury, Jorge Humberto Marin, William Omar Contreras Lopez
No abstract text is available yet for this article.
December 29, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/29356591/gender-specific-differences-in-access-to-polysomnography-and-prevalence-of-sleep-disorders
#17
Michael Auer, Birgit Frauscher, Margarethe Hochleitner, Birgit Högl
BACKGROUND: Previous studies have shown that women have less access or longer waiting times to high-tech medicine compared with men. This study aimed to detect possible gender differences in access to the diagnostic high-tech method of polysomnography (PSG). Furthermore, the study explored gender differences in prevalence of specific sleep diseases. MATERIALS AND METHODS: Source data of n = 1000 patients, who underwent PSG at the Medical University of Innsbruck, were reviewed...
January 22, 2018: Journal of Women's Health
https://www.readbyqxmd.com/read/29352102/teenage-onset-progressive-myoclonic-epilepsy-due-to-a-familial-c9orf72-repeat-expansion
#18
Jelle van den Ameele, Ivana Jedlickova, Anna Pristoupilova, Anne Sieben, Sara Van Mossevelde, Chantal Ceuterick-de Groote, Helena Hůlková, Radoslav Matej, Alfred Meurs, Christine Van Broeckhoven, Samuel F Berkovic, Patrick Santens, Stanislav Kmoch, Bart Dermaut
BACKGROUND: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. OBJECTIVE: To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME...
January 19, 2018: Neurology
https://www.readbyqxmd.com/read/29352095/electrophysiologic-testing-aids-diagnosis-and-subtyping-of-myoclonus
#19
Rodi Zutt, Jan W Elting, Jonathan C van Zijl, J Han van der Hoeven, Christiaan M Roosendaal, Jeannette M Gelauff, Kathryn J Peall, Marina A J Tijssen
OBJECTIVE: To determine the contribution of electrophysiologic testing in the diagnosis and anatomical classification of myoclonus. METHODS: Participants with a clinical diagnosis of myoclonus were prospectively recruited, each undergoing a videotaped clinical examination and battery of electrophysiologic tests. The diagnosis of myoclonus and its subtype was reviewed after 6 months in the context of the electrophysiologic findings and specialist review of the videotaped clinical examination...
January 19, 2018: Neurology
https://www.readbyqxmd.com/read/29342275/hot-spot-kif5a-mutations-cause-familial-als
#20
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
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