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https://www.readbyqxmd.com/read/29332416/-autoimmune-encephalitis-possibilities-in-the-laboratory-investigation
#1
Katalin Böröcz, Zsófia Hayden, Viktória Mészáros, Zsuzsanna Csizmadia, Kornélia Farkas, Zoltán Kellermayer, Péter Balogh, Ferenc Nagy, Tímea Berki
INTRODUCTION: The role of autoimmune responses against central nervous system (CNS) antigens in encephalitis presenting with non-classified neurologic or psychiatric symptoms has been appreciated in the past decade. Paraneoplastic limbic encephalitis has a poor prognosis and is most commonly associated with lung, ovarium, and testicular neoplasms, leading to immune reactions against intracellular antigens (anti-Hu/ANNA1, anti-Ri/ANNA2, anti-CV2/CRMP5 and anti-Ma2/Ta). In contrast, the recently described autoimmune encephalitis subtypes present with a broad spectrum of symptoms, respond to autoimmune therapies well and usually associate with autoantibodies against neuronal cell surface receptors (NMDAR, GABABR, AMPAR) or synaptic proteins (LGI1, CASPR2)...
January 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29325310/-clinical-characteristics-and-whole-exon-sequence-study-of-a-chinese-family-with-autosomal-dominant-lateral-temporal-lobe-epilepsy
#2
C Y Li, H H Yang, R J Lyu, Q Wang
Objective: To explore the genetic characteristics in a Chinese family with autosomal dominant lateral temporal lobe epilepsy (ADLTE) and analyze the correlation between genotype and phenotype. Methods: The natural history, clinical data and peripheral blood sample were collected in all patients and two healthy members of this ADLTE family. Whole exon sequence (WES) analysis strategy was used to explore the underlying mutations. Possible causative genetic variation was further confirmed by direct PCR and Sanger sequencing...
January 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29318331/-severe-hyponatremia-as-precursor-of-lgi1-autoimmune-encephalitis
#3
P Muhr, U Goldammer, C G Bien, C Bien, E Sindern
No abstract text is available yet for this article.
January 9, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29237452/molecular-cloning-and-characterization-of-the-family-of-feline-leucine-rich-glioma-inactivated-lgi-genes-and-mutational-analysis-in-familial-spontaneous-epileptic-cats
#4
Yoshihiko Yu, Daisuke Hasegawa, Aki Fujiwara-Igarashi, Yuji Hamamoto, Shunta Mizoguchi, Takayuki Kuwabara, Michio Fujita
BACKGROUND: Leucine-rich glioma-inactivated (LGI) proteins play a critical role in synaptic transmission. Dysfunction of these genes and encoded proteins is associated with neurological disorders such as genetic epilepsy or autoimmune limbic encephalitis in animals and human. Familial spontaneous epileptic cats (FSECs) are the only feline strain and animal model of familial temporal lobe epilepsy. The seizure semiology of FSECs comprises recurrent limbic seizures with or without evolution into generalized epileptic seizures, while cats with antibodies against voltage-gated potassium channel complexed/LGI1 show limbic encephalitis and recurrent limbic seizures...
December 13, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/29200116/paraneoplastic-disorders
#5
Eric Lancaster
PURPOSE OF REVIEW: Paraneoplastic neurologic syndromes target specific areas of the nervous system with pathogenic autoantibodies or T-cell responses. Each syndrome conveys a risk of particular tumors. Expanded paraneoplastic antibody testing has led to improved diagnosis but created challenges involving appropriate interpretation of test results. RECENT FINDINGS: Peripheral nervous system paraneoplastic disorders such as myasthenia gravis and Lambert-Eaton myasthenic syndrome involve pathogenic autoantibodies...
December 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29195105/lgi1-antibody-encephalitis-detailed-clinical-laboratory-and-radiological-description-of-13-cases-in-china
#6
Dahai Wang, Qinjian Hao, Lingshuang He, Lan He, Qiang Wang
BACKGROUND AND PURPOSE: LGI1 antibody encephalitis is a synaptic autoimmune disorder that was first reported in 2010. To date, LGI1 antibody encephalitis is a widely-recognized disease in neurology and psychiatry. In order to aid clinical recognition of the condition, we analyze the clinical characteristics of 13 Chinese LGI1 antibody encephalitis patients. METHODS: We analyzed clinical features of patients admitted to the West China Hospital who had been diagnosed with LGI1 antibody encephalitis from 2015 to 2017...
November 14, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/29179159/cntnap2-mutations-and-autosomal-dominant-epilepsy-with-auditory-features
#7
Emanuela Leonardi, Emanuela Dazzo, Maria Cristina Aspromonte, Francesco Tabaro, Stefano Pascarelli, Silvio C E Tosatto, Roberto Michelucci, Alessandra Murgia, Carlo Nobile
Autosomal dominant epilepsy with auditory features (ADEAF) is clinically characterized by focal seizures with prominent auditory or aphasic auras and absence of structural brain abnormalities. Mutations in LGI1 and RELN genes account for the disorder in about 50% of ADEAF families. In a recent paper, a heterozygous intragenic deletion in the CNTNAP2 gene has been associated to ADEAF in a single family. We screened 28 ADEAF families for mutations in CNTNAP2 by next generation sequencing and copy number variation analyses and found no likely pathogenic mutations segregating with the disease...
November 21, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29171405/seizure-semiology-of-anti-lgi1-antibody-encephalitis
#8
Nicholas J Beimer, Linda M Selwa
Limbic encephalitis associated with anti-LGI1 antibody (LGI1 encephalitis) presents with a variety of features, the most prominent of which include seizures and progressive disturbance of memory and behaviour. Although varied in semiology, recognition of the pattern of seizures in LGI1 encephalitis is important, as early diagnosis and definitive treatment may prevent subsequent development of cognitive impairment. We present a patient with LGI1 encephalitis and "faciobrachial dystonic seizures-plus", which began as classic faciobrachial dystonic seizures and progressed to focal seizures with impaired awareness, dacrystic/gelastic-like outbursts, ictal speech, manual automatisms, and autonomic signs (tachycardia)...
December 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29166241/two-classes-of-secreted-synaptic-organizers-in-the-central-nervous-system
#9
Michisuke Yuzaki
Research in the last two decades has identified many synaptic organizers in the central nervous system that directly regulate the assembly of preand/ or postsynaptic molecules, such as synaptic vesicles, active zone proteins, and neurotransmitter receptors. They are classified into secreted factors and cell adhesion molecules, such as neurexins and neuroligins. Certain secreted factors are termed extracellular scaffolding proteins (ESPs) because they are components of the synaptic extracellular matrix and serve as a scaffold at the synaptic cleft...
November 20, 2017: Annual Review of Physiology
https://www.readbyqxmd.com/read/29145168/frontal-infraslow-activity-marks-the-motor-spasms-of-anti-lgi1-encephalitis
#10
Richard Wennberg, Claude Steriade, Robert Chen, Danielle Andrade
OBJECTIVE: The clinical and electrographic features of seizures in anti-LGI1 encephalitis are distinct from those seen in other autoimmune encephalitides or non-encephalitic epilepsies. One electroclinical phenomenon specific to the condition consists of lateralized motor spasms, known as faciobrachial dystonic seizures (FBDS). An electrodecremental pattern overriding a "DC shift" has been described as the EEG correlate of these spasms. We sought to further characterize this pre-spasm infraslow activity (ISA)...
October 28, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29103007/anti-lgi1-encephalitis-causing-faciobrachial-dystonic-seizures
#11
Stamatios Zouras, Jeffrey W Stephens, Srinivasa Rao Abburu, Chika Emelle
Anti-leucine-richglioma inactivated protein 1 (LGI1) encephalitis has an autoimmune origin and can be reversed with immunotherapy. It is obvious that identifying and treating this condition early is of paramount importance. We present the case of a 69-year-old man who was admitted to hospital with faciobrachial dystonic seizures and was found to have antibodies to LGI1. His symptoms started approximately 3 months prior admission to the hospital. There had also been some subtle cognitive impairment. He was treated with two courses of intravenous immunoglobulin and commenced on prednisolone 50 mg daily and clonazepam 500 µg at night...
November 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29093718/selective-limbic-blood-brain-barrier-breakdown-in-a-feline-model-of-limbic-encephalitis-with-lgi1-antibodies
#12
Anna R Tröscher, Andrea Klang, Maria French, Lucía Quemada-Garrido, Sibylle Maria Kneissl, Christian G Bien, Ákos Pákozdy, Jan Bauer
Human leucine-rich glioma-inactivated protein 1 encephalitis (LGI1) is an autoimmune limbic encephalitis in which serum and cerebrospinal fluid contain antibodies targeting LGI1, a protein of the voltage gated potassium channel (VGKC) complex. Recently, we showed that a feline model of limbic encephalitis with LGI1 antibodies, called feline complex partial seizures with orofacial involvement (FEPSO), is highly comparable to human LGI1 encephalitis. In human LGI1 encephalitis, neuropathological investigations are difficult because very little material is available...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29075658/improving-the-antibody-based-evaluation-of-autoimmune-encephalitis
#13
Lindsey McCracken, Junxian Zhang, Maxwell Greene, Anne Crivaro, Joyce Gonzalez, Malek Kamoun, Eric Lancaster
OBJECTIVE: We tested whether antibody screening samples of patients with suspected autoimmune encephalitis with additional research assays would improve the detection of autoimmune encephalitis compared with standard clinical testing alone. METHODS: We examined 731 samples (333 CSF, 182 sera, and 108 pairs) from a cohort of 623 patients who were tested for CNS autoantibodies by the University of Pennsylvania clinical laboratory over a 24-month period with cell-based assays (CBAs) on commercially obtained slides of fixed cells for antibodies to NMDA receptor (NMDAR), α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), γ-aminobutyric acid-B receptor (GABABR), leucine-rich glioma-inactivated 1 (LGI1), contactin-associated protein-like 2 (Caspr2), and glutamic acid decarboxylase (GAD65)...
November 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/29057855/a-rare-case-of-autoimmune-limbic-encephalitis-an-uncharted-territory
#14
Hatim Ibrahim, Abdulelah N Al Jasser, Sonia A Khan, Kalthoum G Tlili
Autoimmune encephalitis is rare. Several auto- antibodies are described in autoimmune encephalitis. We describe a case of autoimmune limbic encephalitis associated with positive voltage gated potassium channel (VGKC) antibodies and positive leucine-rich glioma inactivated protein 1 antibodies (LGI1). A 33-year-old Saudi housewife, she presented with 2 months history of cognitive deterioration and recurrent left facio-brachial dystonic seizures followed by generalized tonic clonic seizures. At times the seizures are preceded by rising epigastric aura and shortness of breath...
October 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29055902/lgi1-caspr2-and-related-antibodies-a-molecular-evolution-of-the-phenotypes
#15
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...
October 21, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#16
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050866/seizure-semiology-in-leucine-rich-glioma-inactivated-protein-1-antibody-associated-limbic-encephalitis
#17
Chao Chen, Xiu Wang, Chao Zhang, Tao Cui, Wei-Xiong Shi, Hong-Zhi Guan, Hai-Tao Ren, Xiao-Qiu Shao
OBJECTIVE: The objective of this study was to advance the characterization of seizure semiology in leucine-rich glioma-inactivated protein 1 (LGI1) antibody-associated limbic encephalitis (LE). METHODS: Eighteen patients diagnosed with LGI1 LE were identified. Seizure semiology, demographic features, MRI and fluorodeoxyglucose positron emission tomography (FDG-PET), electroencephalograms, and outcomes following immunotherapy were evaluated. RESULTS: Patients were divided into the following groups based on seizure semiology: faciobrachial dystonic seizure only (FBDS-only, n=4), epileptic seizure without FBDS (Non-FBDS, n=6), and FBDS plus epileptic seizure (FBDS+, n=8)...
October 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29042524/-autoimmune-and-epilepsy
#18
Riki Matsumoto, Mitsuhiro Sakamoto, Akio Ikeda
The recent discovery of autoimmune antibodies to the neuronal cell surface membrane and extra- or intra-cellular proteins, such as NMDAR and LGI1, shed light on a proposed new etiology of epilepsy, namely, "autoimmune epilepsy". A large part of this entity most likely belongs to a forme fruste of autoimmune (limbic) encephalitis. Seizures are usually subacute in onset and refractory to antiepileptic medications. Patients occasionally manifest multiple seizure semiologies, such as autonomic or faciobrachial dystonic seizures...
October 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29034879/induced-pluripotent-stem-cells-derived-from-an-autosomal-dominant-lateral-temporal-epilepsy-adlte-patient-carrying-s473l-mutation-in-leucine-rich-glioma-inactivated-1-lgi1
#19
Ghee Wan Tan, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Kayoko Tsukita, Ran Shibukawa, Misato Funayama, Riki Matsumoto, Akio Ikeda, Ryosuke Takahashi, Haruhisa Inoue
Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited epileptic syndrome, and it is associated with mutations of leucine-rich glioma inactivated 1 (LGI1) gene. The underlying mechanisms of ADLTE are still unknown, as human neurons are difficult to obtain as a research tool. Human induced pluripotent stem cells (iPSCs) allow the generation of patient-derived neuronal cells in a dish, and can be a promising tool to model ADLTE. Here, we report the establishment of human iPSCs from an ADLTE patient carrying LGI1 mutation (c...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28988523/immunopathology-in-drug-resistant-mesial-temporal-lobe-epilepsy-with-different-types-of-hippocampal-sclerosis
#20
F Irsel Tezer, Aysegul Firat, Erdem Tuzun, Isik Unal, Figen Soylemezoglu, Burcak Bilginer, Figen Kaymaz, Kader K Oguz, Serap Saygi
PURPOSE: There is evidence that autoimmunity has a specific role in temporal lobe seizures of limbic encephalitis patients. Our aim in this study was to investigate any histopathological clues of autoimmune process in refractory temporal lobe epilepsy (TLE) patients with different pathologically proven hippocampal sclerosis (HS) types. METHODS: 22 patients who had undergone to epilepsy surgery due to mesial TLE-HS were included. The sera of patients are tested for neuronal antibodies to NMDAR, LGI1, CASPR2, AMPAR, GABABR and GAD...
October 7, 2017: International Journal of Neuroscience
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