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Neuromyotonia

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https://www.readbyqxmd.com/read/28115470/intracellular-and-non-neuronal-targets-of-voltage-gated-potassium-channel-complex-antibodies
#1
Bethan Lang, Mateusz Makuch, Teresa Moloney, Inga Dettmann, Swantje Mindorf, Christian Probst, Winfried Stoecker, Camilla Buckley, Charles R Newton, M Isabel Leite, Paul Maddison, Lars Komorowski, Jane Adcock, Angela Vincent, Patrick Waters, Sarosh R Irani
OBJECTIVES: Autoantibodies against the extracellular domains of the voltage-gated potassium channel (VGKC) complex proteins, leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-2 (CASPR2), are found in patients with limbic encephalitis, faciobrachial dystonic seizures, Morvan's syndrome and neuromyotonia. However, in routine testing, VGKC complex antibodies without LGI1 or CASPR2 reactivities (double-negative) are more common than LGI1 or CASPR2 specificities. Therefore, the target(s) and clinical associations of double-negative antibodies need to be determined...
January 23, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28007994/axonal-neuropathy-with-neuromyotonia-there-is-a-hint
#2
Kristien Peeters, Teodora Chamova, Ivailo Tournev, Albena Jordanova
Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant Charcot-Marie-Tooth neuropathy. About 80% of the patients exhibit neuromyotonia, a striking clinical and electrophysiological hallmark that can help to distinguish this disease and to guide diagnostic screening. HINT1 neuropathy has worldwide distribution and is particularly prevalent in populations inhabiting central and south-eastern Europe. With 12 different mutations identified in more than 60 families, it ranks among the most common subtypes of axonal Charcot-Marie-Tooth neuropathy...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27966545/the-novel-homozygous-kcnj10-c-986t-c-p-leu329pro-variant-is-pathogenic-for-the-sesame-east-homologue-in-malinois-dogs
#3
Mario Van Poucke, Kimberley Stee, Sofie F M Bhatti, An Vanhaesebrouck, Leslie Bosseler, Luc J Peelman, Luc Van Ham
SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound heterozygous variations in the KCNJ10 gene. Here we describe a similar syndrome in two families belonging to the Malinois dog breed, based on clinical, neurological, electrodiagnostic and histopathological examination. Genetic analysis detected a novel pathogenic KCNJ10 c.986T>C (p.(Leu329Pro)) variant that is inherited in an autosomal recessive way...
December 14, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27957617/neuromyotonia-as-an-unusual-neurological-complication-of-primary-sj%C3%A3-gren-s-syndrome-case-report-and-literature-review
#4
REVIEW
Fei Xiao
Primary Sjögren's syndrome (PSS) is a systemic autoimmune disorder characterized by chronic inflammation of exocrine glands such as the lachrymal and salivary glands, leading to xerophthalmia and xerostomia. Neurological manifestations are sometimes found in patients with PSS. A variety of neurological complications has been reported in patients with PSS, and both the central nervous system (CNS) and peripheral nervous system (PNS) can be involved in PSS. Several forms of neuropathy, including polyneuropathy, cranial neuropathy, and multiple mononeuropathy, are often seen in PSS patients...
December 12, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27928392/metastatic-papillary-thyroid-carcinoma-presenting-as-abducens-palsy-complicated-by-ocular-neuromyotonia
#5
Niloofar Yari, Angelina Espino Barros Palau, Michael L Morgan, Nicholas B Levine, Andrew G Lee
Papillary thyroid carcinoma (PTC) is a type of well-differentiated thyroid cancer that accounts for the majority of thyroid malignancies. The prognosis of PTC is very good and distant metastases are rare, especially to the skull base. The authors report the case of a 47-year-old woman with biopsy-proven PTC treated with surgery and radiation therapy who presented with headache and diplopia after 5 years and was found to have clivus and cavernous sinus metastasis. Following radiation therapy for her skull base and cavernous sinus lesion, she subsequently developed sixth nerve ocular neuromyotonia...
April 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27847683/clinical-utility-of-seropositive-voltage-gated-potassium-channel-complex-antibody
#6
Adham Jammoul, Luay Shayya, Karin Mente, Jianbo Li, Alexander Rae-Grant, Yuebing Li
BACKGROUND: Antibodies against voltage-gated potassium channel (VGKC)-complex are implicated in the pathogenesis of acquired neuromyotonia, limbic encephalitis, faciobrachial dystonic seizure, and Morvan syndrome. Outside these entities, the clinical value of VGKC-complex antibodies remains unclear. METHODS: We conducted a single-center review of patients positive for VGKC-complex antibodies over an 8-year period. RESULTS: Among 114 patients positive for VGKC-complex antibody, 11 (9...
October 2016: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/27698847/paraneoplastic-morvan-s-syndrome-following-surgical-treatment-of-recurrent-thymoma-a-case-report
#7
Edvina Galié, Rosaria Renna, Domenico Plantone, Andrea Pace, Mirella Marino, Bruno Jandolo, Tatiana Koudriavtseva
Morvan's syndrome (MoS) is a rare, complex neurological disorder characterized by neuromyotonia, neuropsychiatric features, dysautonomia and neuropathic pain. The majority of MoS cases have a paraneoplastic aetiology, usually occurring prior to the diagnosis of the underlying tumour and showing improvement following its treatment. The present study reports the case of a 35-year-old Caucasian male patient who was diagnosed with stage IVA thymoma. Thymectomy, lung resection, diaphragmatic pleurectomy and pericardio-phrenectomy were performed 6 months after neoadjuvant chemotherapy...
October 2016: Oncology Letters
https://www.readbyqxmd.com/read/27667487/-voltage-gated-potassium-channel-complex-antibodies-associated-encephalopathy-and-related-diseases
#8
Osamu Watanabe
Voltage-gated potassium channel (VGKC) complex antibodies are auto-antibodies, initially identified in acquired neuromyotonia (aNMT; Isaacs' syndrome), which cause muscle cramps and difficulty in opening the palm of the hands. Subsequently, these antibodies were found in patients presenting with aNMT along with psychosis, insomnia, and dysautonomia, collectively termed Morvan's syndrome (MoS), and in a limbic encephalopathy (LE) patient with prominent amnesia and frequent seizures. Typical LE cases have a distinctive adult-onset, frequent, brief dystonic seizure semiology that predominantly affects the arms and ipsilateral face...
September 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27570412/simultaneous-occurrence-of-scleroderma-neuromyotonia-and-inflammatory-myopathy-evidence-of-common-immunological-etiology
#9
Deepa Dash, Mukesh Kumar, Vaishali Suri, Madakasira Vasantha Padma, Manjari Tripathi
No abstract text is available yet for this article.
July 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27564076/extensive-postradiation-ocular-and-diffuse-cranial-neuromyotonia-mimicking-myasthenia-gravis
#10
Todd A Hardy, Andrew W Lee, Con Yiannikas, Celia S Chen, Stephen W Reddel
BACKGROUND: Ocular neuromyotonia is a rare, but well-recognized, complication of cranial irradiation. CASE REPORT: Using figures and videos, we report a 52-year-old man with extensive ocular, brainstem, and lower cranial nerve neuromyotonia postradiation therapy for a fourth ventricle glioma who, in the context of an apparently positive edrophonium test, was initially misdiagnosed with myasthenia gravis. CONCLUSIONS: This is the first case of postirradiation neuromyotonia to be reported with such extensive cranial nerve and brainstem involvement...
September 2016: Neurologist
https://www.readbyqxmd.com/read/27432809/encephalopathy-with-upper-body-hypertonia-and-myoclonus-in-patient-with-systemic-lupus-erythematosus-and-anti-caspr2
#11
A Castro, J C Romeu, R Geraldes, J A Pereira da Silva
Systemic lupus erythematosus (SLE) may involve the nervous system but there are no specific biomarkers of neuroSLE. Limbic encephalitis has been rarely associated with SLE. We present a case of a 22-year-old black woman where typical SLE psychosis evolved to an encephalopathy with atypical features, normal MRI, electroencephalogram slowing and frontal and occipito-temporal hypometabolism on fluorodeoxyglucose positron emission tomography (FDG PET).Memory deficits, bizarre behaviour, psychosis, neuromyotonia and movement disorders have been described in autoimmune central nervous system disorders and associated with specific antibodies...
January 2017: Lupus
https://www.readbyqxmd.com/read/27428927/characterization-of-a-subtype-of-autoimmune-encephalitis-with-anti-contactin-associated-protein-like-2-antibodies-in-the-cerebrospinal-fluid-prominent-limbic-symptoms-and-seizures
#12
Bastien Joubert, Margaux Saint-Martin, Nelly Noraz, Géraldine Picard, Veronique Rogemond, François Ducray, Virginie Desestret, Dimitri Psimaras, Jean-Yves Delattre, Jean-Christophe Antoine, Jérôme Honnorat
IMPORTANCE: Autoantibodies against contactin-associated protein-like 2 (CASPR2) are observed in several neurological syndromes, including neuromyotonia (NMT), Morvan syndrome (MoS), and limbic encephalitis. OBJECTIVE: To characterize the clinical and biological presentations of patients with anti-CASPR2 antibodies in the cerebrospinal fluid (CSF). DESIGN, SETTING, AND PARTICIPANTS: We conducted a retrospective cohort analysis of 18 patients who had anti-CASPR2 antibodies in their CSF between March 2009 and November 2015 at the Centre National de Référence pour les Syndromes Neurologiques Paranéoplasiques in Lyon, France...
September 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27428488/a-first-case-report-of-hint1-related-axonal-neuropathy-with-neuromyotonia-in-a-greek-family
#13
Dimitra Veltsista, Elisabeth Chroni
No abstract text is available yet for this article.
September 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27387736/classification-of-involuntary-movements-in-dogs-tremors-and-twitches
#14
REVIEW
Mark Lowrie, Laurent Garosi
This review focuses on important new findings in the field of involuntary movements (IM) in dogs and illustrates the importance of developing a clear classification tool for diagnosing tremor and twitches. Developments over the last decade have changed our understanding of IM and highlight several caveats in the current tremor classification. Given the ambiguous association between tremor phenomenology and tremor aetiology, a more cautious definition of tremors based on clinical assessment is required. An algorithm for the characterisation of tremors is presented herein...
August 2016: Veterinary Journal
https://www.readbyqxmd.com/read/27306762/therapy-of-vestibular-paroxysmia-superior-oblique-myokymia-and-ocular-neuromyotonia
#15
REVIEW
Michael Strupp, Marianne Dieterich, Thomas Brandt, Katharina Feil
Neurovascular compression syndromes are characterized by recurrent attacks of neurological symptoms and clinical signs depending on the cranial nerve affected. It is assumed that pulsatile compression of the nerve is caused mainly by an artery. The result is segmental demyelination of the transition zone or the central part of the cranial nerve, which is covered by oligodendrocytes, and subsequent ephaptic axonal transmission. Compression of the vestibular nerve can cause attacks of spinning or non-spinning vertigo: vestibular paroxysmia...
July 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27298455/teaching-neuroimages-ocular-neuromyotonia-an-underrecognized-cause-of-transient-diplopia
#16
Daniel R Gold
No abstract text is available yet for this article.
June 14, 2016: Neurology
https://www.readbyqxmd.com/read/27224435/a-case-of-morvan-syndrome-mimicking-amyotrophic-lateral-sclerosis-with-frontotemporal-dementia
#17
Brin Freund, Manoj Maddali, Thomas E Lloyd
INTRODUCTION: Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. It may present a diagnostic dilemma when trying to differentiate from amyotrophic lateral sclerosis with frontotemporal dementia. METHODS: A 76-year-old man with a history of untreated prostate adenocarcinoma was evaluated for subacute cognitive decline, diffuse muscle cramps, and hyponatremia...
June 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27056852/-autoimmune-associated-encephalitis-and-dementia
#18
REVIEW
Osamu Watanabe
Antibodies against various neural surface antigens induce cognitive impairments. Anti-VGKC (voltage gated potassium channel) complex antibodies are well known as one of the causative autoantibodies. An anti-VGKC antibody was identified as the autoantibody in acquired neuromyotonia (Isaacs' syndrome), which causes muscle cramps and difficulty in opening the palm of the hands. However, this antibody also tests positive in autoimmune limbic encephalitis, which has a subacute progress and causes poor memory or epilepsy attacks...
April 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27023310/strabismus-surgery-in-patients-with-ocular-neuromyotonia-potential-unmasking-of-the-condition-and-effective-management-tool
#19
J Anna Kim, Federico G Velez, Stacy L Pineles
BACKGROUND: Ocular neuromyotonia (ONM) is a rare motility disorder in which paroxysms of tonic extraocular muscle contraction from abnormal ocular motor nerve firing result in episodic diplopia and strabismus. Medical therapy with membrane-stabilizing agents has varied success. A surgical approach to treatment has not yet been described. We report the outcomes of strabismus surgery in patients with ONM. METHODS: We describe 3 patients with sixth nerve paresis and ONM of the affected lateral rectus muscle who underwent strabismus surgery...
September 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/26885596/use-of-botulinum-toxin-type-a-for-the-treatment-of-radiation-therapy-induced-myokymia-and-neuromyotonia-in-a-dog
#20
Cleo P Rogatko, Eric N Glass, Marc Kent, James J Hammond, Alexander de Lahunta
CASE DESCRIPTION A 5-year-old castrated male Maltese was evaluated for intermittent clinical signs of muscle cramping and abnormal movements of the skin of the right pelvic limb at the site where an infiltrative lipoma had twice been resected. After the second surgery, the surgical field was treated with radiation therapy (RT). The clinical signs developed approximately 14 months after completion of RT. CLINICAL FINDINGS When clinical signs were present, the right biceps femoris and semitendinosus muscles in the area that received RT were firm and had frequently visible contractions, and the skin overlying those muscles had episodic vermiform movements...
March 1, 2016: Journal of the American Veterinary Medical Association
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