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Neuromyotonia

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https://www.readbyqxmd.com/read/28682959/paraneoplastic-neuropathies
#1
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...
July 5, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28638854/autoimmune-episodic-ataxia-in-patients-with-anti-caspr2-antibody-associated-encephalitis
#2
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
#3
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
#4
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...
May 10, 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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28115470/intracellular-and-non-neuronal-targets-of-voltage-gated-potassium-channel-complex-antibodies
#8
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...
April 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28007994/axonal-neuropathy-with-neuromyotonia-there-is-a-hint
#9
REVIEW
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...
April 1, 2017: 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
#10
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...
February 2017: 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
#11
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...
February 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/27928392/metastatic-papillary-thyroid-carcinoma-presenting-as-abducens-palsy-complicated-by-ocular-neuromyotonia
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Dimitra Veltsista, Elisabeth Chroni
No abstract text is available yet for this article.
September 2016: Clinical Neurology and Neurosurgery
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