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https://www.readbyqxmd.com/read/28223418/papers-of-note-in-science-translational-medicine9-377
#1
Leslie K Ferrarelli
This week's articles report an integrated cell-based assay to test cardiac toxicity of anticancer drugs and discover a pathogen recognized by autoimmune antibodies involved in a form of epilepsy.
February 21, 2017: Science Signaling
https://www.readbyqxmd.com/read/28219682/epilepsy-and-synaptic-proteins
#2
REVIEW
Yuko Fukata, Masaki Fukata
Throughout history, epilepsy affects about 1-2% of the population worldwide. Epilepsy can be caused by traumatic brain injury, exposure to certain toxins and drugs, and mutations of genes that often encode synaptic proteins. In addition to conventional linkage and association studies, the recent trio exome sequencing in epilepsy and proteomic analysis in autoimmune synaptopathies have accelerated identification of novel epilepsy-related proteins, most of which play critical roles in synaptic transmission. Furthermore, super-resolution microscopy analysis has revealed subsynaptic nanoscale distribution of presynaptic and postsynaptic proteins and suggests a precise trans-synaptic alignment of neurotransmitter release to receptors...
February 17, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28166361/antibody-prevalence-in-epilepsy-ape-score-evolution-in-autoimmune-epilepsy-practice
#3
Andrew McKeon
No abstract text is available yet for this article.
February 6, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28166327/neurological-autoantibody-prevalence-in-epilepsy-of-unknown-etiology
#4
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/28105459/mog-antibody-positive-benign-unilateral-cerebral-cortical-encephalitis-with-epilepsy
#5
Ryo Ogawa, Ichiro Nakashima, Toshiyuki Takahashi, Kimihiko Kaneko, Tetsuya Akaishi, Yoshiki Takai, Douglas Kazutoshi Sato, Shuhei Nishiyama, Tatsuro Misu, Hiroshi Kuroda, Masashi Aoki, Kazuo Fujihara
OBJECTIVE: To describe the features of adult patients with benign, unilateral cerebral cortical encephalitis positive for the myelin oligodendrocyte glycoprotein (MOG) antibody. METHODS: In this retrospective, cross-sectional study, after we encountered an index case of MOG antibody-positive unilateral cortical encephalitis with epileptic seizure, we tested for MOG antibody using our in-house, cell-based assay in a cohort of 24 consecutive adult patients with steroid-responsive encephalitis of unknown etiology seen at Tohoku University Hospital (2008-2014)...
March 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28063151/gad65-neurological-autoimmunity
#6
Andrew McKeon, Jennifer A Tracy
The glutamic acid decarboxylase 65-isoform (GAD65) antibody is a biomarker of autoimmune central nervous system (CNS) disorders and, more commonly, non-neurological autoimmune diseases. Type 1 diabetes, autoimmune thyroid disease, and pernicious anemia are the most frequent GAD65 autoimmune associations. One or more of these disorders coexists in approximately 70% of patients with GAD65 neurological autoimmunity. Neurological phenotypes have CNS localization and include limbic encephalitis, epilepsy, cerebellar ataxia, and stiff-person syndrome (SPS), among others...
January 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28057897/review-and-update-of-the-hong-kong-epilepsy-guideline-on-status-epilepticus
#7
REVIEW
E Lw Fung, B Bh Fung
Convulsive status epilepticus is the most extreme form of seizure. It is a medical and neurological emergency that requires prompt and appropriate treatment. Treatment of convulsive status epilepticus is usually divided into stages/steps. The International League Against Epilepsy has released a new definition of status epilepticus that may help to unify the definition in future studies. Over the last few years new information has become available regarding its management. The Rapid Anticonvulsant Medication Prior to Arrival Trial demonstrated non-inferiority of intramuscular midazolam in early status epilepticus compared with intravenous lorazepam...
January 6, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28054130/posterior-reversible-encephalopathy-syndrome
#8
REVIEW
Marlene Fischer, Erich Schmutzhard
The posterior reversible encephalopathy syndrome (PRES) is a neurological disorder of (sub)acute onset characterized by varied neurological symptoms, which may include headache, impaired visual acuity or visual field deficits, disorders of consciousness, confusion, seizures, and focal neurological deficits. In a majority of patients the clinical presentation includes elevated arterial blood pressure up to hypertensive emergencies. Neuroimaging, in particular magnetic resonance imaging, frequently shows a distinctive parieto-occipital pattern with a symmetric distribution of changes reflecting vasogenic edema...
January 4, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28043058/epilepsy-surgery-in-drug-resistant-temporal-lobe-epilepsy-associated-with-neuronal-antibodies
#9
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/28026029/anti-lgi1-encephalitis-is-associated-with-unique-hla-subtypes
#10
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, 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 autoimmune encephalitis 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...
December 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27988430/kinin-receptors-key-regulators-of-autoimmunity
#11
REVIEW
Rafael Cypriano Dutra
The central function of the immune system is to protect the host from environmental agents such as microbes or chemicals, thereby preserving the integrity of the body, and preventing the onset of illness and infection. Moreover, the immune system is constantly challenged to discriminate self vs. non-self and mediate the correct response, a phenomenon called self-tolerance. The failure of mechanisms responsible for self-tolerance and induction of an immune response against components of the self, induces autoimmunity and culminates however, in several autoimmune diseases...
February 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/27976606/the-progression-of-coeliac-disease-its-neurological-and-psychiatric-implications
#12
Giovanna Campagna, Mirko Pesce, Raffaella Tatangelo, Alessia Rizzuto, Irene La Fratta, Alfredo Grilli
The aim of the paper is to show the various neurological and psychiatric symptoms in coeliac disease (CD). CD is a T cell-mediated, tissue-specific autoimmune disease which affects genetically susceptible individuals after dietary exposure to proline- and glutamine-rich proteins contained in certain cereal grains. Genetics, environmental factors and different immune systems, together with the presence of auto-antigens, are taken into account when identifying the pathogenesis of CD. CD pathogenesis is related to immune dysregulation, which involves the gastrointestinal system, and the extra-intestinal systems such as the nervous system, whose neurological symptoms are evidenced in CD patients...
December 15, 2016: Nutrition Research Reviews
https://www.readbyqxmd.com/read/27957507/antibodies-to-inositol-1-4-5-triphosphate-receptor-1-in-patients-with-cerebellar-disease
#13
Penelope Fouka, Harry Alexopoulos, Ioanna Chatzi, Skarlatos G Dedos, Martina Samiotaki, George Panayotou, Panagiotis Politis, Athanasios Tzioufas, Marinos C Dalakas
OBJECTIVE: To describe newly identified autoantibodies associated with cerebellar disorders. DESIGN/METHODS: We first screened the sera of 15 patients with cerebellar ataxia, without any known associated autoantibodies, with immunocytochemistry on mouse brain. After characterization and validation of a newly identified antibody, 85 additional patients with suspected autoimmune cerebellar disease were screened using a cell-based assay. RESULTS: Immunoglobulin G from one of the first 15 patients demonstrated a distinct staining pattern on Purkinje neurons...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27956450/medical-problems-in-pregnancy
#14
Bhaskar Narayan, Catherine Nelson-Piercy
The prevalence of medical problems in pregnancy is increasing because of a complex interplay between demographic and lifestyle factors, and developments in modern medicine. Maternal mortality and morbidity resulting from treatable medical conditions, such as venous thromboembolism, epilepsy and autoimmune disease, have not decreased in recent years. This is despite a marked decrease in overall maternal mortality. It is vital that all physicians acquire a basic knowledge and understanding of medical problems in pregnancy...
December 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/27919115/febrile-infection-related-epilepsy-syndrome-clinical-review-and-hypotheses-of-epileptogenesis
#15
Andreas van Baalen, Annamaria Vezzani, Martin Häusler, Gerhard Kluger
Febrile infection-related epilepsy syndrome (FIRES, AERRPS, or DESC) is one of the most severe, mostly irreversible, and presumably immune-mediated epileptic encephalopathies affecting healthy children. Refractory status epilepticus or a cluster of seizures start a few days after the onset of an acute febrile illness; however, encephalitis cannot be proved. Sequelae of FIRES are drug-resistant epilepsy and neuropsychological impairments occurring without latency. Clinical knowledge is limited because FIRES is sporadic and extremely rare...
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27882059/intestinal-microbiota-as-an-alternative-therapeutic-target-for-epilepsy
#16
REVIEW
Jiaying Wu, Yuyu Zhang, Hongyu Yang, Yuefeng Rao, Jing Miao, Xiaoyang Lu
Epilepsy is one of the most widespread serious neurological disorders, and an aetiological explanation has not been fully identified. In recent decades, a growing body of evidence has highlighted the influential role of autoimmune mechanisms in the progression of epilepsy. The hygiene hypothesis draws people's attention to the association between gut microbes and the onset of multiple immune disorders. It is also believed that, in addition to influencing digestive system function, symbiotic microbiota can bidirectionally and reversibly impact the programming of extraintestinal pathogenic immune responses during autoimmunity...
2016: Canadian Journal of Infectious Diseases & Medical Microbiology
https://www.readbyqxmd.com/read/27784470/-autoimmune-inflammation-a-cause-of-epilepsy-to-which-attention-needs-to-be-paid
#17
L P Zou
No abstract text is available yet for this article.
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27781030/seizures-and-epilepsies-due-to-channelopathies-and-neurotransmitter-receptor-dysfunction-a-parallel-between-genetic-and-immune-aspects
#18
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/27776934/the-antiphospholipid-syndrome-in-patients-with-systemic-lupus-erythematosus
#19
REVIEW
Guillermo J Pons-Estel, Laura Andreoli, Francesco Scanzi, Ricard Cervera, Angela Tincani
The antiphospholipid syndrome (APS) is an autoimmune disease characterized by the occurrence of venous and/or arterial thrombosis and pregnancy morbidity in the presence of pathogenic autoantibodies known as antiphospholipid antibodies (aPL). APS may be associated with other diseases, mainly systemic lupus erythematosus (SLE). The presence or absence of SLE might modify the clinical or serological expression of APS. Apart from the classical manifestations, APS patients with associated SLE more frequently display a clinical profile with arthralgias, arthritis, autoimmune hemolytic anemia, livedo reticularis, epilepsy, glomerular thrombosis, and myocardial infarction...
January 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/27686441/-an-analysis-and-literature-review-of-two-cases-of-autoimmune-encephalitis-with-gabab-receptor-antibodies
#20
M Zhang, H J Hao, L P Liu, H H Zhang, Y Y Zhou
Autoimmune encephalitis with GABAB receptor antibodies has been rarely reported. Two cases of GABAB receptor antibodies encephalitis were presented here.Epilepsy was the onset symptom, followed by declined consciousness and frequent seizures. Fever was presented in the whole course of the disease. Myorhythmia of the two hands and pilomotor seizures were shown in the later course of the disease. No specificity was demonstrated in electroencephalograms and magnetic resonance imaging. Sensitive response was shown to the first-line immunotherapy...
October 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
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