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Neuromyotonia

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https://www.readbyqxmd.com/read/29787766/structure-and-functional-characterization-of-human-histidine-triad-nucleotide-binding-protein-1-mutations-associated-with-inherited-axonal-neuropathy-with-neuromyotonia
#1
Rachit M Shah, Kimberly M Maize, Harrison T West, Alexander M Strom, Barry C Finzel, Carston R Wagner
Inherited peripheral neuropathies are a group of neurodegenerative disorders that clinically affect 1 in 2500 individuals. Recently, genetic mutations in Human Histidine Nucleotide Binding Protein 1 (hHint1) have been strongly and most frequently associated with patients suffering from axonal neuropathy with neuromyotonia. However, the correlation between the impact of these mutations on the hHint1 structure, enzymatic activity and in vivo function has remained ambiguous. Here, we provide detailed biochemical characterization of a set of these hHint1 mutations...
May 19, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29720798/mercury-toxicity-following-unauthorized-siddha-medicine-intake-a-mimicker-of-acquired-neuromyotonia-report-of-32-cases
#2
G Gnanashanmugam, R Balakrishnan, S P Somasundaram, N Parimalam, P Rajmohan, M B Pranesh
Context: Mercury is used extensively in the preparation of Siddha medicines, after purification. In this study, we present 32 patients of mercury toxicity following unauthorized Siddha medicine intake who mimicked neuromyotonia clinically. We analyzed the clinical features of these patients, the role of autoimmunity in etiopathology, and compared it with acquired neuromyotonia. Subjects and Methods: This is a retrospective study to analyze inpatients in a tertiary care center, admitted with mercury toxicity following Siddha medicine intake from August 2012 to October 2016...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29712816/teaching-video-neuroimages-acquired-focal-neuromyotonia-in-lgi-1-autoimmunity
#3
A Sebastian López Chiriboga, Joseph Matsumoto, Eric Sorenson, Christopher J Klein, Andrew McKeon
No abstract text is available yet for this article.
May 1, 2018: Neurology
https://www.readbyqxmd.com/read/29693497/ocular-neuromyotonia-case-reports-and-literature-review
#4
Anne-Catherine Stockman, Catherine Cassiman, Maria Dieltiëns, Hilde Janssens, Maria Van Lammeren, Liesbet Beelen, Veerle Van Bellinghen
Ocular neuromyotonia (ONM) is a rare eye movement disorder, presenting as a paroxysmal involuntary spasm of one or more extra-ocular muscles, that can persist for a few seconds up to several minutes. The phenomenon is caused by the contraction of an extra-ocular muscle, excited by a damaged nerve, which leads to delayed muscle relaxation. We present eight patients with this rare condition together with an overview of the literature on all published ONM cases. One of the presented cases is possibly secondary to hypovitaminosis D...
April 25, 2018: Strabismus
https://www.readbyqxmd.com/read/29561731/paraneoplastic-movement-disorders
#5
Karolina Popławska-Domaszewicz, Jolanta Florczak-Wyspiańska, Wojciech Kozubski, Sławomir Michalak
Paraneoplastic movement disorders are rare, autoimmune-mediated, nonmetastatic complications of malignant neoplasms. Common paraneoplastic movement disorders include paraneoplastic chorea, dystonia, cerebellar degeneration, different types of encephalitis, opsoclonus-myoclonus syndrome, stiff person syndrome, and neuromyotonia. Syndromes usually develop before tumor diagnosis, have subacute onset, and are associated with serum or cerebrospinal fluid antibodies. Two types of antibodies can be distinguished: antibodies against nuclear and cytoplasmic neuronal antigens (anti-Hu, anti-Ri, anti-Yo, anti-Ma, anti-CV2/CRMP5, anti-Gephrin, and anti-GABATRAP) and antibodies recently identified against cell surface and synaptic proteins (anti-NMDAR, anti-LGI1, and anti-Caspr2)...
March 21, 2018: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29467180/ocular-neuromyotonia
#6
Ricardo Soares-Dos-Reis, Ana Inês Martins, Ana Brás, Anabela Matos, Conceição Bento, João Lemos
Ocular neuromyotonia is a rare, albeit treatable, ocular motor disorder, characterised by recurrent brief episodes of diplopia due to tonic extraocular muscle contraction. Ephaptic transmission in a chronically damaged ocular motor nerve is the possible underlying mechanism. It usually improves with carbamazepine. A 53-year-old woman presented with a 4-month history of recurrent episodes of binocular vertical diplopia (up to 40/day), either spontaneously or after sustained downward gaze. Between episodes she had a mild left fourth nerve palsy...
February 21, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29426461/a-rare-case-of-bilateral-ocular-neuromyotonia
#7
Zaria Christine Ali, Hasan Anzar Usmani, Alec Ansons
No abstract text is available yet for this article.
February 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29406902/autoimmune-and-paraneoplastic-movement-disorders-an-update
#8
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/29244234/mechanisms-of-caspr2-antibodies-in-autoimmune-encephalitis-and-neuromyotonia
#9
Kristina R Patterson, Josep Dalmau, Eric Lancaster
OBJECTIVE: To determine the pathogenic mechanisms of autoantibodies to the cell adhesion molecule Caspr2 in acquired neuromyotonia and autoimmune encephalitis. METHODS: Caspr2-positive samples were confirmed using a cell-based assay, and their IgG subtypes were determined by enzyme-linked immunosorbent assay and cell-based assay. A solid phase binding assay quantified the binding of Caspr2 to contactin-2 in the presence of Caspr2 autoantibodies. Living cultures of primary rat hippocampal neurons were incubated with Caspr2-positive or control sera, and the distribution of Caspr2-positive immunofluorescent puncta and total surface Caspr2 was quantified...
January 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29222073/functional-impairments-in-a-patient-with-morvan-syndrome-a-case-presentation
#10
Stephanie Tow, Desi Carozza, Kim Barker
A 48-year-old man with lung squamous cell carcinoma was admitted to acute care with cognitive impairment after recent chemotherapy. He developed myoclonus, ataxia, agitation, and visual hallucinations. Morvan syndrome, a rare voltage-gated potassium channel antibody disorder characterized by neuromyotonia with central nervous system dysfunction, was eventually diagnosed. He received plasmapheresis and was admitted to inpatient rehabilitation, where he safely participated in therapies. By focusing on neuromuscular rehabilitation, balance training, fine motor skills, and cognitive retraining emphasizing skills relevant to the patient's premorbid cognitive activities, the patient demonstrated significant functional improvement, decreasing the burden of care of his caregivers...
December 6, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29097081/paraneoplastic-autoimmune-movement-disorders
#11
Thien Thien Lim
PURPOSE OF REVIEW: To provide an overview of paraneoplastic autoimmune disorders presenting with various movement disorders. RECENT FINDINGS: The spectrum of paraneoplastic autoimmune disorders has been expanding with the discovery of new antibodies against cell surface and intracellular antigens. Many of these paraneoplastic autoimmune disorders manifest as a form of movement disorder. With the discovery of new neuronal antibodies, an increasing number of idiopathic or neurodegenerative movement disorders are now being reclassified as immune-mediated movement disorders...
November 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29055902/lgi1-caspr2-and-related-antibodies-a-molecular-evolution-of-the-phenotypes
#12
REVIEW
Sophie N M Binks, Christopher J Klein, Patrick Waters, Sean J Pittock, Sarosh R Irani
Recent biochemical observations have helped redefine antigenic components within the voltage-gated potassium channel (VGKC) complex. The related autoantibodies may be now divided into likely pathogenic entities, which target the extracellular domains of leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (CASPR2), and species that target intracellular neuronal components and are likely non-pathogenic. This distinction has enhanced clinical practice as direct determination of LGI1 and CASPR2 antibodies offers optimal sensitivity and specificity...
May 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28871072/teaching-video-neuro-images-bilateral-abducens-ocular-neuromyotonia
#13
Kavin Vanikieti, Joseph F Rizzo
No abstract text is available yet for this article.
September 5, 2017: Neurology
https://www.readbyqxmd.com/read/28682959/paraneoplastic-neuropathies
#14
REVIEW
Jean-Christophe Antoine, Jean-Philippe Camdessanché
PURPOSE OF REVIEW: To review recent advances in paraneoplastic neuropathies with emphasis on their definition, different forms and therapeutic development. RECENT FINDINGS: A strict definition of definite paraneoplastic neuropathies is necessary to avoid confusion. With carcinoma, seronegative sensory neuronopathies and neuronopathies and anti-Hu and anti-CV2/Contactin Response Mediator Protein 5 antibodies are the most frequent. With lymphomas, most neuropathies occur with monoclonal gammopathy including AL amyloidosis, Polyneuropathy-Organomegaly-Endocrinopathy-M component-Skin changes (POEMS) syndrome, type I cryoglobulinemia and antimyelin-associated glycoprotein (MAG) neuropathies and Waldenström's disease...
October 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28638854/autoimmune-episodic-ataxia-in-patients-with-anti-caspr2-antibody-associated-encephalitis
#15
Bastien Joubert, Florent Gobert, Laure Thomas, Margaux Saint-Martin, Virginie Desestret, Philippe Convers, Véronique Rogemond, Géraldine Picard, François Ducray, Dimitri Psimaras, Jean-Christophe Antoine, Jean-Yves Delattre, Jérôme Honnorat
OBJECTIVE: To report paroxysmal episodes of cerebellar ataxia in a patient with anti-contactin-associated protein-like 2 (CASPR2) antibody-related autoimmune encephalitis and to search for similar paroxysmal ataxia in a cohort of patients with anti-CASPR2 antibody-associated autoimmune encephalitis. METHODS: We report a patient with paroxysmal episodes of cerebellar ataxia observed during autoimmune encephalitis with anti-CASPR2 antibodies. In addition, clinical analysis was performed in a retrospective cohort of 37 patients with anti-CASPR2 antibodies to search for transient episodes of ataxia...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28544133/autoimmune-encephalitis-associated-with-voltage-gated-potassium-channels-complex-and-leucine-rich-glioma-inactivated-1-antibodies-a-national-cohort-study
#16
M Celicanin, M Blaabjerg, C Maersk-Moller, S Beniczky, L Marner, C Thomsen, F W Bach, D Kondziella, H Andersen, F Somnier, Z Illes, L H Pinborg
BACKGROUND AND PURPOSE: The aim of this study was to describe clinical and paraclinical characteristics of all Danish patients who tested positive for anti-voltage-gated potassium channels (VGKC)-complex, anti-leucine-rich glioma-inactivated 1 (LGI1) and anti-contactin-associated protein-2 antibodies in the serum/cerebrospinal fluid between 2009 and 2013 with follow-up interviews in 2015 and 2016. METHODS: We evaluated antibody status, symptoms leading to testing, course of disease, suspected diagnosis and time of admission as well as diagnosis and treatment...
August 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28490504/fasciculation-in-amyotrophic-lateral-sclerosis-origin-and-pathophysiological-relevance
#17
REVIEW
Mamede de Carvalho, Matthew C Kiernan, Michael Swash
This review considers the origin and significance of fasciculations in neurological practice, with an emphasis on fasciculations in amyotrophic lateral sclerosis (ALS), and in benign fasciculation syndromes. Fasciculation represents a brief spontaneous contraction that affects a small number of muscle fibres, causing a flicker of movement under the skin. While an understanding of the role of fasciculation in ALS remains incomplete, fasciculations derive from ectopic activity generated in the motor system. A proximal origin seems likely to contribute to the generation of fasciculation in the early stages of ALS, while distal sites of origin become more prominent later in the disease, associated with distal motor axonal sprouting as part of the reinnervation response that develops secondary to loss of motor neurons...
September 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28469972/a-wolf-in-sheep-s-clothing-an-alien-leg-in-corticobasal-syndrome
#18
Diana Angelika Olszewska, Allan McCarthy, Brian Murray, Brian Magennis, Sean Connolly, Tim Lynch
BACKGROUND: Alien limb phenomenon occurs in 50-60% of patients with corticobasal syndrome (CBS) and usually presents with an "alien hand" phenomenon. The "alien foot" presentation is rarer and may be misdiagnosed, as foot involvement can lead to erroneous localization of the clinical problem to the knee, hip, or back. Subsequently misdiagnoses such as myelopathy, radiculopathy, functional disorder, stiff leg syndrome, neuromyotonia, and painful leg moving toes syndrome may occur. CASE REPORT: We describe two patients with alien foot symptoms that resulted in multiple opinions from different specialists, multiple diagnostic and therapeutic procedures, and delayed diagnosis...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28251919/netrin-1-receptor-antibodies-in-thymoma-associated-neuromyotonia-with-myasthenia-gravis
#19
Estefanía Torres-Vega, Nuria Mancheño, Arantxa Cebrián-Silla, Vicente Herranz-Pérez, María J Chumillas, Germán Moris, Bastien Joubert, Jérôme Honnorat, Teresa Sevilla, Juan J Vílchez, Josep Dalmau, Francesc Graus, José Manuel García-Verdugo, Luis Bataller
OBJECTIVE: To identify cell-surface antibodies in patients with neuromyotonia and to describe the main clinical implications. METHODS: Sera of 3 patients with thymoma-associated neuromyotonia and myasthenia gravis were used to immunoprecipitate and characterize neuronal cell-surface antigens using reported techniques. The clinical significance of antibodies against precipitated proteins was assessed with sera of 98 patients (neuromyotonia 46, myasthenia gravis 52, thymoma 42; 33 of them with overlapping syndromes) and 219 controls (other neurologic diseases, cancer, and healthy volunteers)...
March 28, 2017: Neurology
https://www.readbyqxmd.com/read/28235725/the-generator-site-in-acquired-autoimmune-neuromyotonia
#20
Miguel Oliveira Santos, Michael Swash, Mamede de Carvalho
OBJECTIVE: To investigate the origin of ectopic activity in neuromyotonia (NMT). METHODS: We studied two patients. In addition to routine studies, we tested synchronicity of spontaneous discharges in different motor units in simultaneous recordings made with two needle electrodes in the first dorsal interosseus muscle. Time-locked fasciculations in these double recordings would represent abnormal ectopic activity initiated in a nerve trunk with ephaptic stimulation of a nearby axon...
April 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
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