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Autoimmune epilepsy

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https://www.readbyqxmd.com/read/28434922/association-of-autoimmune-thyroiditis-and-celiac-disease-with-juvenile-polyposis-due-to-10q23-1q23-31-deletion-potential-role-of-pi3k-akt-pathway-dysregulation
#1
Federica Guaraldi, Giovanni Di Nardo, Luigi Tarani, Luca Bertelli, Francesco Claudio Susca, Rosanna Bagnulo, Nicoletta Resta
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28396650/new-onset-refractory-status-epilepticus-with-claustrum-damage-definition-of-the-clinical-and-neuroimaging-features
#2
Stefano Meletti, Giada Giovannini, Giuseppe d'Orsi, Lisa Toran, Giulia Monti, Rahul Guha, Andreas Kiryttopoulos, Maria Grazia Pascarella, Tommaso Martino, Haris Alexopoulos, Martha Spilioti, Jana Slonkova
New-onset refractory status epilepticus (NORSE) is a rare but challenging condition occurring in a previously healthy patient, often with no identifiable cause. We describe the electro-clinical features and outcomes in a group of patients with NORSE who all demonstrated a typical magnetic resonance imaging (MRI) sign characterized by bilateral lesions of the claustrum. The group includes 31 patients (12 personal and 19 previously published cases; 17 females; mean age of 25 years). Fever preceded status epilepticus (SE) in 28 patients, by a mean of 6 days...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28395090/immune-cell-infiltrates-in-hippocampal-sclerosis-correlation-with-neuronal-loss
#3
Jian-Qiang Lu, Trevor A Steve, Matt Wheatley, Donald W Gross
Immune mechanisms have been increasingly recognized in the pathogenesis of hippocampal sclerosis (HS), but infiltration of cytotoxic T-cells and its pathological significance in patients with HS has not been explored. We examined 30 cases of surgically resected hippocampi, including 16 International League Against Epilepsy (ILAE) type 1, 9 ILAE type 2, 1 ILAE type 3 HS, and 4 ILAE No-HS, as well as 6 autopsy No-HS hippocampi. The HS hippocampi showed sparse to scattered CD8-positive T-cells, rare CD4-positive T-cells, and a modest increase in CD68-positive microglia/macrophages, which were significantly more numerous than those in the No-HS controls...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28394231/long-term-neurodevelopmental-outcome-of-children-born-to-prospectively-followed-pregnancies-of-women-with-systemic-lupus-erythematosus-and-or-antiphospholipid-syndrome
#4
C Nalli, A Iodice, L Andreoli, J Galli, A Lojacono, M Motta, E Fazzi, A Tincani
Background Systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome (APS) are autoimmune diseases that affect women of childbearing age. Maternal IgG antiphospholipid antibodies (aPL) can cross the placenta during pregnancy and theoretically reach the fetal brain. Some studies showed an increased number of learning disabilities in these children. Objectives To evaluate the long-term neurodevelopmental outcome of 40 children (median age 7.4 years) born to mothers with SLE and/or APS carrying positive IgG aPL during the third trimester of pregnancy...
April 2017: Lupus
https://www.readbyqxmd.com/read/28385184/cerebrospinal-fluid-markers-of-neuronal-and-glial-cell-damage-in-patients-with-autoimmune-neurologic-syndromes-with-and-without-underlying-malignancies
#5
Radu Constantinescu, David Krýsl, Kerstin Andrén, Fredrik Asztély, Filip Bergquist, Henrik Zetterberg, Ulf Andreasson, Markus Axelsson, Elinor Ben Menachem, Daniel Jons, Ubah Mahamud, Clas Malmeström, Lars Rosengren, Kaj Blennow
Autoimmune neurologic syndromes can be paraneoplastic (associated with malignancies and/or onconeural antibodies), or non-paraneoplastic. Their clinical presentation is often similar. As prognosis is related to malignancy treatment, better biomarkers are needed to identify patients with malignancy. We investigated cerebrospinal fluid (CSF) markers of neuronal (neurofilament light chain, NFL and total tau protein, T-tau) and glial (glial fibrillary acidic protein) damage. CSF-NFL and T-tau were increased in both paraneoplastic and non-paraneoplastic autoimmune syndromes...
May 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28373803/evaluation-of-glutamic-acid-decarboxylase-antibody-levels-in-patients-with-juvenile-myoclonic-epilepsy-and-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#6
Ayten Ceyhan Dirican, Sevilay Elibirlik, Ayhan Köksal, Musa Öztürk, Yavuz Altunkaynak, Sevim Baybaş, Ahmet Dirican
INTRODUCTION: Several clinical studies have been conducted to investigate the role of autoantibodies and immunological mechanisms in the etiology of treatment-resistant epilepsy in recent years. Some immunological treatments have been suggested as a result of these studies. In this study, we aimed to investigate the role of autoimmunity in partial and idiopathic generalized epilepsy and determine the relationship between drug resistance and autoimmune antibodies. METHODS: Twenty-eight patients (24 treatment-responsive and 4 treatment-resistant) with juvenile myoclonic epilepsy (JME), 26 patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS) resistant to antiepileptic drug treatment, and 26 age-matched healthy control subjects were included in a two-year cross sectional study...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28360810/brain-infiltration-of-immune-cells-in-caspr2-antibody-associated-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#7
Gökçen Ünverengil, Ebru Nur Vanli Yavuz, Erdem Tüzün, Ece Erdağ, Sevil Kabadayi, Bilge Bilgiç, Betül Baykan
INTRODUCTION: Antibodies directed against neuronal surface antigens have recently been identified in patients with focal temporal lobe epilepsy (TLE) of unknown cause and mesial TLE with hippocampal sclerosis (MTLE-HS), thereby emphasizing the role of autoimmunity in TLE. Antibodies to contactin-associated protein-like 2 (CASPR2) are prevalent in MTLE-HS patients. We aimed to find out whether anti-neuronal autoimmunity might be involved in CASPR2 antibody-related MTLE-HS. METHODS: Surgically resected medial temporal lobe specimens of seropositive and seronegative MTLE-HS patients were examined with hematoxylin and eosin and immunohistochemical staining using specific immune cell markers...
December 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28287071/auditory-seizures-in-autoimmune-epilepsy-a-case-with-anti-thyroid-antibodies
#8
Claudia Varrasi, Domizia Vecchio, Luca Magistrelli, Gionata Strigaro, Laura Tassi, Roberto Cantello
In its classic presentation, Hashimoto's encephalopathy is an acute-subacute complex neuropsychiatric syndrome with cognitive impairment, hallucinations, myoclonus, tremor or ataxia, associated with elevated anti-thyroid antibodies. Corticoids and immunotherapy are dramatically effective. However, in some cases, not all the associated features are presented and this delays diagnosis and appropriate treatment. We describe a man with abrupt onset of recurrent auditory seizures resulting in refractory non-convulsive status epilepticus...
March 8, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28284046/breaking-the-cycle-a-comparison-between-intravenous-immunoglobulins-and-high-dosage-prednisone-in-the-treatment-of-medically-intractable-epilepsy-in-children
#9
COMPARATIVE STUDY
Richard Tang-Wai, Janette Mailo, Bernard Rosenblatt
PURPOSE: Because immune mediated mechanisms are suspected in epileptogenesis, IVIg and corticosteroids have been used as alternatives to treat refractory seizures. We present our experience treating intractable epileptic children with IVIg and prednisone. METHODS: Children with intractable epilepsy treated with prednisone or IVIg between 2005-2016 were reviewed retrospectively. Children with infantile spasms and autoimmune epilepsy were excluded. Data analyzed include epilepsy type and etiology, duration of epilepsy prior to treatment, seizure outcome, time to best seizure outcome, and adverse effects...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28256379/outcome-of-childhood-onset-epilepsy-from-adolescence-to-adulthood-transition-issues
#10
REVIEW
R Nabbout, D M Andrade, N Bahi-Buisson, H Cross, I Desquerre, O Dulac, T Granata, E Hirsch, V Navarro, L Ouss, P L Pearl, D Schmidt, E Thiele, P R Camfield, C S Camfield
This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders)...
February 27, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28223418/papers-of-note-in-science-translational-medicine9-377
#11
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
#12
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
#13
Andrew McKeon
No abstract text is available yet for this article.
April 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28166327/neurological-autoantibody-prevalence-in-epilepsy-of-unknown-etiology
#14
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...
April 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28105459/mog-antibody-positive-benign-unilateral-cerebral-cortical-encephalitis-with-epilepsy
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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