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https://www.readbyqxmd.com/read/28331893/striking-basal-ganglia-imaging-abnormalities-in-lgi1-ab-faciobrachial-dystonic-seizures
#1
A Sebastian López Chiriboga, Jason L Siegel, William O Tatum, Jerry J Shih, Eoin P Flanagan
No abstract text is available yet for this article.
May 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28298428/autoantibodies-to-synaptic-receptors-and-neuronal-cell-surface-proteins-in-autoimmune-diseases-of-the-central-nervous-system
#2
REVIEW
Josep Dalmau, Christian Geis, Francesc Graus
Investigations in the last 10 years have revealed a new category of neurological diseases mediated by antibodies against cell surface and synaptic proteins. There are currently 16 such diseases all characterized by autoantibodies against neuronal proteins involved in synaptic signaling and plasticity. In clinical practice these findings have changed the diagnostic and treatment approach to potentially lethal, but now treatable, neurological and psychiatric syndromes previously considered idiopathic or not even suspected to be immune-mediated...
April 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28272206/limbic-encephalitis-associated-with-anti-nh2-terminal-of-%C3%AE-enolase-antibodies-a-clinical-subtype-of-hashimoto-encephalopathy
#3
Toru Kishitani, Akiko Matsunaga, Masamichi Ikawa, Kouji Hayashi, Osamu Yamamura, Tadanori Hamano, Osamu Watanabe, Keiko Tanaka, Yasunari Nakamoto, Makoto Yoneda
Several types of autoantibodies have been reported in autoimmune limbic encephalitis (LE), such as antibodies against the voltage-gated potassium channel (VGKC) complex including leucine-rich glioma inactivated 1 (LGI1). We recently reported a patient with autoimmune LE and serum anti-NH2-terminal of α-enolase (NAE) antibodies, a specific diagnostic marker for Hashimoto encephalopathy (HE), who was diagnosed with HE based on the presence of antithyroid antibodies and responsiveness to immunotherapy. This case suggests that LE patients with antibodies to both the thyroid and NAE could be diagnosed with HE and respond to immunotherapy...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28248701/autoimmune-encephalitis-with-anti-leucine-rich-glioma-inactivated-1-or-anti-contactin-associated-protein-like-2-antibodies-formerly-called-voltage-gated-potassium-channel-complex-antibodies
#4
Anna E M Bastiaansen, Agnes van Sonderen, Maarten J Titulaer
PURPOSE OF REVIEW: Twenty years since the discovery of voltage-gated potassium channel (VGKC)-related autoimmunity; it is currently known that the antibodies are not directed at the VGKC itself but to two closely associated proteins, anti-leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (Caspr2). Antibodies to LGI1 and Caspr2 give well-described clinical phenotypes. Anti-LGI1 encephalitis patients mostly have limbic symptoms, and anti-Caspr2 patients have variable syndromes with both central and peripheral symptoms...
February 28, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28166327/neurological-autoantibody-prevalence-in-epilepsy-of-unknown-etiology
#5
Divyanshu Dubey, Abdulradha Alqallaf, Ryan Hays, Matthew Freeman, Kevin Chen, Kan Ding, Mark Agostini, Steven Vernino
Importance: Autoimmune epilepsy is an underrecognized condition, and its true incidence is unknown. Identifying patients with an underlying autoimmune origin is critical because these patients' condition may remain refractory to conventional antiseizure medications but may respond to immunotherapy. Objective: To determine the prevalence of neurological autoantibodies (Abs) among adult patients with epilepsy of unknown etiology. Design, Setting, and Participants: Consecutive patients presenting to neurology services with new-onset epilepsy or established epilepsy of unknown etiology were identified...
February 6, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28142128/the-clinical-phenotype-of-autosomal-dominant-lateral-temporal-lobe-epilepsy-related-to-reelin-mutations
#6
Roberto Michelucci, Patrizia Pulitano, Carlo Di Bonaventura, Simona Binelli, Concetta Luisi, Elena Pasini, Salvatore Striano, Pasquale Striano, Giangennaro Coppola, Angela La Neve, Anna Teresa Giallonardo, Oriano Mecarelli, Elena Serioli, Emanuela Dazzo, Manuela Fanciulli, Carlo Nobile
OBJECTIVE: To describe the clinical phenotype of 7 families with Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) related to Reelin (RELN) mutations comparing the data with those observed in 12 LGI1-mutated pedigrees belonging to our series. METHODS: Out of 40 Italian families with ADLTE, collected by epileptologists participating in a collaborative study of the Commission for Genetics of the Italian League against Epilepsy encompassing a 14-year period (2000-2014), 7 (17...
January 28, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28115470/intracellular-and-non-neuronal-targets-of-voltage-gated-potassium-channel-complex-antibodies
#7
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/28081431/clinical-characterization-of-autoimmune-encephalitis-and-psychosis
#8
Qinjian Hao, Dahai Wang, Lanting Guo, Bo Zhang
BACKGROUND AND PURPOSE: Autoimmune disorders are growing alarmingly high in prevalence across the globe. Autoimmune encephalitis has had a dramatic impact on the medical field, effectually altering diagnostic and treatment paradigms in regard to neuropsychiatric disorders. Our primary goal in conducting this study was to analyze the clinical characteristics of autoimmune encephalitis patients, with special focus on psychiatric presentations, in the West China Hospital and report patient prognoses after immunotherapy...
December 27, 2016: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28073143/demyelinating-polyneuropathy-in-a-case-of-anti-lgi1-encephalitis
#9
Gemma Tumminelli, Carla Battisti, Chiara Cioni, Andrea Mignarri, Pasquale Annunziata, And Antonio Federico
No abstract text is available yet for this article.
January 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28043063/investigation-of-neuronal-auto-antibodies-in-systemic-lupus-erythematosus-patients-with-epilepsy
#10
Zerrin Karaaslan, Esme Ekizoğlu, Pınar Tektürk, Ece Erdağ, Erdem Tüzün, Nerses Bebek, Candan Gürses, Betül Baykan
PURPOSE: Epilepsy is an important feature for neuropsychiatric involvement in systemic lupus erythematosus (SLE) with unknown mechanism. Our aim was to investigate the presence of neuronal auto-antibodies (NAbs) in neuropsychiatric SLE (NPSLE). METHODS: Eighteen SLE patients (17 females, 1 male) experiencing recurrent seizures were enrolled to this study. Their clinical characteristics, EEG and MRI findings and follow-up information were evaluated from their files...
December 14, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28043058/epilepsy-surgery-in-drug-resistant-temporal-lobe-epilepsy-associated-with-neuronal-antibodies
#11
Mar Carreño, Christian G Bien, Ali A Asadi-Pooya, Michael Sperling, Petr Marusic, Martin Elisak, Jose Pimentel, Tim Wehner, Rajiv Mohanraj, Juan Uranga, Asier Gómez-Ibáñez, Vicente Villanueva, Francisco Gil, Antonio Donaire, Nuria Bargalló, Jordi Rumià, Pedro Roldán, Xavier Setoain, Luis Pintor, Teresa Boget, Eva Bailles, Mercè Falip, Javier Aparicio, Josep Dalmau, Francesc Graus
We assessed the outcome of patients with drug resistant epilepsy and neuronal antibodies who underwent epilepsy surgery. Retrospective study, information collected with a questionnaire sent to epilepsy surgery centers. Thirteen patients identified, with antibodies to GAD (8), Ma2 (2), Hu (1), LGI1 (1) or CASPR2 (1). Mean age at seizure onset: 23 years. Five patients had an encephalitic phase. Three had testicular tumors and five had autoimmune diseases. All had drug resistant temporal lobe epilepsy (median: 20 seizures/month)...
January 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28026046/anti-lgi1-encephalitis-is-strongly-associated-with-hla-dr7-and-hla-drb4
#12
Agnes van Sonderen, Dave L Roelen, Johannes A Stoop, Robert M Verdijk, Geert W Haasnoot, Roland D Thijs, Paul W Wirtz, Marco W J Schreurs, Frans H J Claas, Peter A E Sillevis Smitt, Maarten J Titulaer
Leucine-rich glioma-inactivated1 (LGI1) encephalitis is an antibody-associated inflammation of the limbic area. An autoimmune etiology is suspected but not yet proven. We performed human leukocyte antigen (HLA) analysis in 25 nontumor anti-LGI1 patients and discovered a remarkably strong HLA association. HLA-DR7 was present in 88% compared to 19.6% in healthy controls (p = 4.1 × 10(-11) ). HLA-DRB4 was present in all patients and in 46.5% controls (p = 1.19 × 10(-7) ). These findings support the autoimmune hypothesis...
February 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28026029/anti-lgi1-encephalitis-is-associated-with-unique-hla-subtypes
#13
Tae-Joon Kim, Soon-Tae Lee, Jangsup Moon, Jun-Sang Sunwoo, Jung-Ick Byun, Jung-Ah Lim, Yong-Won Shin, Jin-Sun Jun, Han Sang Lee, Woo-Jin Lee, Ah Reaum Yang, Yunhee Choi, Kyung-Il Park, Keun-Hwa Jung, Ki-Young Jung, Manho Kim, Sang Kun Lee, Kon Chu
OBJECTIVE: Autoimmune encephalitis (AE), represented by anti-leucine-rich glioma-inactivated 1 (anti-LGI1) and anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, has increasing clinical significance based on recent discoveries of neuronal autoantibodies. However, its immunopathogenesis is not fully understood. Here, we investigated whether AE is associated with the human leukocyte antigen (HLA) subtypes. METHODS: We compared the HLA genotypes of 11 anti-LGI1 and 17 anti-NMDAR encephalitis patients to the control groups, which consisted of 210 epilepsy patients and 485 healthy Koreans...
February 2017: Annals of Neurology
https://www.readbyqxmd.com/read/27965002/prevalence-and-clinical-characteristics-of-serum-neuronal-cell-surface-antibodies-in-first-episode-psychosis-a-case-control-study
#14
Belinda R Lennox, Emma C Palmer-Cooper, Thomas Pollak, Jane Hainsworth, Jacqui Marks, Leslie Jacobson, Bethan Lang, Hannah Fox, Berne Ferry, Linda Scoriels, Hannah Crowley, Peter B Jones, Paul J Harrison, Angela Vincent
BACKGROUND: Psychosis is a common presenting feature in antibody-mediated encephalitis, for which prompt recognition and treatment usually leads to remission. We aimed to investigate whether people with circumscribed schizophrenia-like illnesses have such antibodies-especially antibodies against the N-methyl-D-aspartate receptor (NMDAR)-more commonly than do healthy controls. METHODS: We recruited patients aged 14-35 years presenting to any of 35 mental health services sites across England with first-episode psychosis, less than 6 weeks of treatment with antipsychotic medication, and a score of 4 or more on at least one selected Positive and Negative Syndrome Scale (PANSS) item...
January 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/27893017/evaluation-of-cognitive-deficits-and-structural-hippocampal-damage-in-encephalitis-with-leucine-rich-glioma-inactivated-1-antibodies
#15
Carsten Finke, Harald Prüss, Josephine Heine, Sigrid Reuter, Ute A Kopp, Florian Wegner, Florian Then Bergh, Sebastian Koch, Olav Jansen, Thomas Münte, Günther Deuschl, Klemens Ruprecht, Winfried Stöcker, Klaus-Peter Wandinger, Friedemann Paul, Thorsten Bartsch
Importance: Limbic encephalitis with leucine-rich, glioma-inactivated 1 (LGI1) antibodies is one of the most frequent variants of autoimmune encephalitis with antibodies targeting neuronal surface antigens. However, the neuroimaging pattern and long-term cognitive outcome are not well understood. Objective: To study cognitive outcome and structural magnetic resonance imaging (MRI) alterations in patients with anti-LGI1 encephalitis. Design, Setting, and Participants: A cross-sectional study was conducted at the Departments of Neurology at Charité-Universitätsmedizin Berlin and University Hospital Schleswig-Holstein, Kiel, Germany...
January 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/27781030/seizures-and-epilepsies-due-to-channelopathies-and-neurotransmitter-receptor-dysfunction-a-parallel-between-genetic-and-immune-aspects
#16
REVIEW
Agustina M Lascano, Christian M Korff, Fabienne Picard
Despite intensive research activity leading to many important discoveries, the pathophysiological mechanisms underlying seizures and epilepsy remain poorly understood. An important number of specific gene defects have been related to various forms of epilepsies, and autoimmunity and epilepsy have been associated for a long time. Certain central nervous system proteins have been involved in epilepsy or acute neurological diseases with seizures either due to underlying gene defects or immune dysfunction. Here, we focus on 2 of them that have been the object of particular attention and in-depth research over the past years: the N-methyl-D-aspartate receptor and the leucin-rich glioma-inactivated protein 1 (LGI1)...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27777346/the-relevance-of-vgkc-positivity-in-the-absence-of-lgi1-and-caspr2-antibodies
#17
James B Lilleker, Matthew S Jones, Rajiv Mohanraj, Tianrong Yeo, Josiah Y.H. Chai, Kevin Tan, Agnes van Sonderen, Marco W J Schreurs, Marienke A A M de Bruijn, Peter A E Sillevis Smitt, Maarten J Titulaer
No abstract text is available yet for this article.
October 25, 2016: Neurology
https://www.readbyqxmd.com/read/27760137/secretion-positive-lgi1-mutations-linked-to-lateral-temporal-epilepsy-impair-binding-to-adam22-and-adam23-receptors
#18
Emanuela Dazzo, Emanuela Leonardi, Elisa Belluzzi, Sandro Malacrida, Libero Vitiello, Elisa Greggio, Silvio C E Tosatto, Carlo Nobile
Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein. Most ADLTE-causing mutations inhibit LGI1 protein secretion, and only a few secretion-positive missense mutations have been reported. Here we describe the effects of four disease-causing nonsynonymous LGI1 mutations, T380A, R407C, S473L, and R474Q, on protein secretion and extracellular interactions. Expression of LGI1 mutant proteins in cultured cells shows that these mutations do not inhibit protein secretion...
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27737869/lgi1-encephalitis-a-disease-of-jerks-and-confusion
#19
Deepa Dash, Madhavi Tripathi, Kavish Ihtisham, Manjari Tripathi
Limbic encephalitis is a group of immune-mediated disorders that includes the classic paraneoplastic encephalitic syndrome and the recently described non-paraneoplastic autoimmune encephalitis most of which target the extracellular antigens. We present a case of 70-year-old man who presented with rapidly progressive cognitive decline and refractory faciobrachial dystonic seizures and demonstrated seropositivity for leucine-rich, glioma-inactivated protein 1 antibodies. After immunomodulation, the patient had dramatic improvement in the cognitive functioning and in seizure control...
October 13, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27717669/the-lgi1-adam22-protein-complex-in-synaptic-transmission-and-synaptic-disorders
#20
Yuko Fukata, Norihiko Yokoi, Yuri Miyazaki, Masaki Fukata
Physiological functioning of the brain requires fine-tuned synaptic transmission, and its dysfunction causes various brain disorders such as autism, dementia, and epilepsy. It is therefore extremely important to identify and characterize key regulators of synaptic function. In particular, disease-related synaptic proteins, such as autism-related neurexin-neuroligin and psychiatric disorder-related NMDA receptor, have attracted considerable attention. Recent basic and clinical research has highlighted critical roles of a ligand-receptor complex, LGI1-ADAM22, in synaptic transmission and brain function, as mutations in the LGI1 gene cause autosomal dominant lateral temporal lobe epilepsy and autoantibodies to LGI1 cause limbic encephalitis which is characterized by memory loss and seizures...
October 4, 2016: Neuroscience Research
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