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Myoclonus

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https://www.readbyqxmd.com/read/28815192/epileptic-negative-myoclonus-as-the-first-and-only-symptom-in-a-challenging-diagnosis-of-benign-epilepsy-with-centrotemporal-spikes
#1
Jing Chen, Guo Zheng, Hu Guo, Xiaopeng Lu, Chunfeng Wu, Xiaoyu Wang, Wei Tao
OBJECTIVE: To investigate the clinical and neurophysiological characteristics of epileptic negative myoclonus as the first and only ictal symptom of benign epilepsy with centrotemporal spikes. METHODS: Electrophysiological evaluations included polygraphic recordings with simultaneous video electroencephalogram monitoring and tests performed with patient's upper limb outstretched in standing posture. Epileptic negative myoclonus manifestations, electrophysiological features, and responses to antiepileptic drugs were analyzed...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28808513/lance-adams-syndrome-associated-with-cerebellar-pathology
#2
Adam Waddell, Ahmed Dirweesh, Fausto Ordonez, Charles Kososky, Leema Reddy Peddareddygari, Raji P Grewal
Lance-Adams syndrome (LAS) is an uncommon neurological disorder characterized by the development of chronic post-hypoxic myoclonus. There are relatively few cases described following successful cardiopulmonary resuscitation. We report a patient who developed LAS 3 months after successful resuscitation. Cerebral imaging studies indicate that brain pathology in LAS patients is not uniform, suggesting that the pathophysiology of myoclonus may vary from patient to patient. Our patient adds to this etiological heterogeneity by demonstrating the unusual feature of cerebellar pathology by both cerebral magnetic resonance imaging and single-photon emission computed tomography scans...
July 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28805718/myoclonic-disorders
#3
REVIEW
Olaf Eberhardt, Helge Topka
Few movement disorders seem to make a straightforward approach to diagnosis and treatment more difficult and frustrating than myoclonus, due to its plethora of causes and its variable classifications. Nevertheless, in recent years, exciting advances have been made in the elucidation of the pathophysiology and genetic basis of many disorders presenting with myoclonus. Here, we provide a review of all of the important types of myoclonus encountered in pediatric and adult neurology, with an emphasis on the recent developments that have led to a deeper understanding of this intriguing phenomenon...
August 14, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28800888/clinical-classification-of-post-anoxic-myoclonic-status
#4
Yara Mikhaeil-Demo, Jay R Gavvala, Irena I Bellinski, Micheal P Macken, Aditi Narechania, Jessica W Templer, Stephen VanHaerents, Stephan U Schuele, Elizabeth E Gerard
INTRODUCTION: Despite decades of research into the prognostic significance of post anoxic myoclonic status (MS), no consistent definition has been used to describe its clinical appearance. We set out to characterize the clinical features of MS and hypothesized that there are distinct clinical subtypes that may have prognostic implications. METHODS: Video EEG reports from 2008 to 2016 were searched to identify adult patients with post anoxic MS defined as persistent myoclonus for >30min beginning within 3days of cardiac arrest in a comatose patient...
August 8, 2017: Resuscitation
https://www.readbyqxmd.com/read/28800070/pathogenesis-of-lafora-disease-transition-of-soluble-glycogen-to-insoluble-polyglucosan
#5
REVIEW
Mitchell A Sullivan, Silvia Nitschke, Martin Steup, Berge A Minassian, Felix Nitschke
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset. The disease is caused by loss-of-function mutations in either of the two genes EPM2A (laforin) or EPM2B (malin). It characteristically involves the accumulation of insoluble glycogen-derived particles, named Lafora bodies (LBs), which are considered neurotoxic and causative of the disease. The pathogenesis of LD is therefore centred on the question of how insoluble LBs emerge from soluble glycogen...
August 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28799704/the-nature-consequences-and-management-of-neurological-disorders-in-chronic-kidney-disease
#6
REVIEW
Bahman Jabbari, Nosratola D Vaziri
Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy...
August 11, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28799509/update-on-pharmacological-treatment-of-progressive-myoclonus-epilepsies
#7
Edoardo Ferlazzo, Dorothee Kasteleijn-Nolst Trenite, Gerrit-Jan de Haan, Felix Felix Nitschke, Saija Ahonen, Sara Gasparini, Berge A Minassian
BACKGROUND: Progressive myoclonus epilepsies (PMEs) are a group of rare inherited diseases featuring a combination of myoclonus, seizures and variable degree of cognitive impairment. Despite extensive investigations, a large number of PMEs remain undiagnosed. In this review, we focus on the current pharmacological approach to PMEs. METHODS: References were mainly identified through PubMed search until February 2017 and backtracking of references in pertinent studies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28777173/restless-legs-syndrome-and-sleep-related-movement-disorders
#8
Lynn Marie Trotti
PURPOSE OF REVIEW: This article provides an update on six sleep-related movement disorders: restless legs syndrome (RLS), periodic limb movement disorder, sleep-related leg cramps, bruxism, rhythmic movement disorder, and propriospinal myoclonus, with an emphasis on RLS. RECENT FINDINGS: RLS is a common sensorimotor disorder that impairs quality of life. RLS is frequently comorbid to neurologic, psychiatric, vascular, and inflammatory diseases. Accumulating evidence implicates the pathophysiology of RLS as a state of dopamine dysfunction and iron deficiency that occurs on a background of genetic susceptibility conferred by 6 gene polymorphisms...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28769869/impact-of-transcranial-magnetic-stimulation-on-functional-movement-disorders-cortical-modulation-or-a-behavioral-effect
#9
Béatrice Garcin, Francine Mesrati, Cécile Hubsch, Thomas Mauras, Iulia Iliescu, Lionel Naccache, Marie Vidailhet, Emmanuel Roze, Bertrand Degos
INTRODUCTION: Recent studies suggest that repeated transcranial magnetic stimulation (TMS) improves functional movement disorders (FMDs), but the underlying mechanisms are unclear. The objective was to determine whether the beneficial action of TMS in patients with FMDs is due to cortical neuromodulation or rather to a cognitive-behavioral effect. METHOD: Consecutive patients with FMDs underwent repeated low-frequency (0.25 Hz) magnetic stimulation over the cortex contralateral to the symptoms or over the spinal roots [root magnetic stimulation (RMS)] homolateral to the symptoms...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28767715/lafora-disease-in-miniature-wirehaired-dachshunds
#10
Lindsay Swain, Gill Key, Anna Tauro, Saija Ahonen, Peixiang Wang, Cameron Ackerley, Berge A Minassian, Clare Rusbridge
Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of abnormal glycogen (Lafora bodies). Recent breed-wide testing suggests that the carrier plus affected rate may be as high as 20%. A characteristic feature of the disease is spontaneous and reflex myoclonus; however clinical signs and disease progression are not well described...
2017: PloS One
https://www.readbyqxmd.com/read/28762753/migraine-in-mitochondrial-disorders-prevalence-and-characteristics
#11
Catello Vollono, Guido Primiano, Giacomo Della Marca, Anna Losurdo, Serenella Servidei
Background Migraine is a well-known feature of mitochondrial disorders (MDs). However, no systematic epidemiological data are available in large populations of patients. Aims The aim of this cross-sectional cohort study was to describe the prevalence and migraine characteristics in a large cohort of patients with mitochondrial encephalomyopathies. Methods We studied 93 consecutive patients with characterised MDs referred to our Neuromuscular Unit during a 12-month period. All patients (age range = 16-78 years; 31 men; 58 progressive external ophthalmoplegia [PEO], 12 myoclonic epilepsy with ragged red fibres [MERRF], eight mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes [MELAS], two mitochondrial neurogastrointestinal encephalomyopathy [MNGIE] and 13 other MDs) underwent a structured diagnostic headache interview using an operational diagnostic tool following the IHS criteria...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28761904/iglon5-antibody-neurological-accompaniments-and-outcomes-in-20-patients
#12
Josephe A Honorat, Lars Komorowski, Keith A Josephs, Kai Fechner, Erik K St Louis, Shannon R Hinson, Sabine Lederer, Neeraj Kumar, Avi Gadoth, Vanda A Lennon, Sean J Pittock, Andrew McKeon
OBJECTIVE: To describe the phenotypes, treatment response, and outcome of IgLON5 autoimmunity. METHODS: Archived serum and CSF specimens from 367 patients known to harbor unclassified antibodies which stained neural synapses diffusely (mimicking amphiphysin-IgG) were reevaluated by indirect immunofluorescence assay (IFA) using a composite of mouse tissues and recombinant IgLON5-transfected cell-based assay (CBA, Euroimmun). RESULTS: Available specimens (serum, 25; CSF, 9) from 26/367 patients (7%) had identical IFA appearance and robust IgLON5 CBA positivity...
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28761332/using-dezocine-to-prevent-etomidate-induced-myoclonus-a-meta-analysis-of-randomized-trials
#13
Yu Zhu, Yuting Yang, Chengmao Zhou, Zeqing Bao
OBJECTIVE: This study was designed to evaluate the efficacy and safety of preinjection of dezocine in preventing etomidate-induced myoclonus. METHODS: PubMed, Embase, The Cochrane Library, and China National Knowledge Infrastructure (CNKI) were searched to collect relevant randomized controlled trials (RCTs) from inception to July 2016 on the preinjection of dezocine in preventing etomidate-induced myoclonus. Two researchers independently screened literature, extracted data, and evaluated bias risks in accordance with inclusion and exclusion criteria, and then used RevMan 5...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28756378/thalamic-and-cerebellar-hypermetabolism-and-cortical-hypometabolism-during-absence-status-epilepticus
#14
Kei Shimogori, Tadashi Doden, Kazuhiro Oguchi, Takao Hashimoto
We report on a 17-year-old girl with absence status epilepticus who developed recurrent motionless confusional state and continuous generalised 3-4 Hz rhythmic delta waves on electroencephalogram (EEG). The patient had no history of absence, myoclonus or generalised convulsion. Her seizure was resistant to a combination of antiepileptic drugs including carbamazepine. Ictal positron emission tomography using [(18)F]fluorodeoxyglucose ([(18)F]FDG-PET) revealed hypermetabolism of the bilateral thalamus and cerebellum and hypometabolism of the frontal, parietal and posterior cingulate cortices...
July 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28755095/neurological-adverse-effects-attributable-to-%C3%AE-lactam-antibiotics-a-literature-review
#15
REVIEW
Samuel Deshayes, Antoine Coquerel, Renaud Verdon
β-lactam antibiotics are commonly prescribed antibiotic drugs. To describe the clinical characteristics, risk markers and outcomes of β-lactam antibiotic-induced neurological adverse effects, we performed a general literature review to provide updated clinical data about the most used β-lactam antibiotics. For selected drugs in each class available in France (ticarcillin, piperacillin, temocillin, ceftazidime, cefepime, cefpirome, ceftaroline, ceftobiprole, ceftolozane, ertapenem and aztreonam), a systematic literature review was performed up to April 2016 via an electronic search on PubMed...
July 28, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28749249/an-autopsy-verified-case-of-steroid-responsive-encephalopathy-with-convulsion-and-a-false-positive-result-from-the-real-time-quaking-induced-conversion-assay
#16
Yuichi Hayashi, Yasushi Iwasaki, Nobuaki Yoshikura, Takahiko Asano, Maya Mimuro, Akio Kimura, Katsuya Satoh, Tetsuyuki Kitamoto, Mari Yoshida, Takashi Inuzuka
We report an autopsy-verified case of steroid-responsive encephalopathy with convulsion and a false-positive result from the real-time quaking-induced conversion (RT-QUIC) assay. A 61-year-old Japanese man presented with acute onset of consciousness disturbance, and convulsions, but without a past medical or family history of progressive dementia, epilepsy, or prion disease. Brain diffusion and fluid-attenuated inverted recovery MR images revealed edematous cortical hyper-intensity, which diminished after the acute phase...
July 4, 2017: Prion
https://www.readbyqxmd.com/read/28745672/-gender-aspects-of-medico-social-adaptation-in-adults-with-early-onset-of-epilepsy
#17
O V Grebenyuk, T V Kazennykh, V M Alifirova, M V Svetlik, N A Bokhan
AIM: To study the relationship between indicators of clinical picture and social adaptation in idiopathic and symptomatic epilepsies with onset before adulthood depending on patient's gender. MATERIAL AND METHODS: The cross-sectional study was carried out. The study group included 212 women and 171 men, aged 24-60 years, with confirmed diagnosis of epilepsy with onset before 18 years. Seventy-three patients were diagnosed with symptomatic epilepsy, 310 with idiopathic epilepsy...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28740856/opsoclonus-myoclonus-syndrome-during-rituximab-treatment-for-autoimmune-autonomic-ganglionopathy
#18
Oana M Dumitrascu, Andrew McKeon, Leslie Zuniga, Marie F Grill, Brent P Goodman
No abstract text is available yet for this article.
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28738275/early-childhood-myoclonic-epilepsy-an-independent-genetic-generalized-epilepsy-with-myoclonic-seizures-as-the-main-seizure-type
#19
Zhixian Yang, Jiao Xue, Hui Li, Ping Qian, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang
OBJECTIVE: To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification. METHODS: Forty-two children were retrospectively recruited between January 2006 and June 2015. RESULTS: The mean age of seizure onset was 40.5months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences...
September 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28726030/intravascular-large-b-cell-lymphoma-presenting-clinically-as-rapidly-progressive-dementia
#20
REVIEW
F M Brett, D Chen, T Loftus, Y Langan, S Looby, S Hutchinson
BACKGROUND: In patients presenting with rapidly progressive dementia, prion disease may enter the differential diagnosis. The commonest malignancies masquerading as prion disease are primary CNS lymphoma and intravascular large B-cell lymphoma, both rare and difficult to diagnose without brain biopsy. CASE PRESENTATION: This 82-year-old lady with a past history of hypertension, presented with rapidly progressive cognitive impairment and ataxia. The possibility of sCJD was raised...
July 19, 2017: Irish Journal of Medical Science
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