keyword
MENU ▼
Read by QxMD icon Read
search

Caspr2

keyword
https://read.qxmd.com/read/30762603/a-patient-with-a-novel-cntnap2-homozygous-variant-further-delineation-of-the-caspr2-deficiency-syndrome-and-review-of-the-literature
#1
Florence Riccardi, Jill Urquhart, Gary McCullagh, Peter Lawrence, Sofia Douzgou
No abstract text is available yet for this article.
February 12, 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30724344/acquired-neuromyotonia-in-children-with-caspr2-and-lgi1-antibodies
#2
Snehal Surana, Ratna Kumar, Matthew Pitt, Patricia Hafner, Ailsa Mclellan, Joyce Davidson, Prab Prabakhar, Angela Vincent, Yael Hacohen, Sukhvir Wright
Acquired neuromyotonia is a form of peripheral nerve hyperexcitability. In adults, pathogenic antibodies that target the extracellular domains of leucine-rich glioma-inactivated protein 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) have been reported. We describe three paediatric patients with acquired neuromyotonia and CASPR2 and LGI1 serum antibodies. They all presented with acute-onset myokymia and pain in the lower limbs; one patient also had muscle weakness. Electromyography was suggestive of peripheral nerve hyperexcitability...
February 6, 2019: Developmental Medicine and Child Neurology
https://read.qxmd.com/read/30718328/reader-response-video-neuroimages-paraneoplastic-spinal-myoclonus-associated-with-caspr2-antibodies
#3
Philip W Tipton, Jay A van Gerpen, Robert Chen
No abstract text is available yet for this article.
February 5, 2019: Neurology
https://read.qxmd.com/read/30718327/author-response-video-neuroimages-paraneoplastic-spinal-myoclonus-associated-with-caspr2-antibodies
#4
Harrison Hines, Nick M Murray, Sarah Ahmad, Safwan Jaradeh, Carl A Gold
No abstract text is available yet for this article.
February 5, 2019: Neurology
https://read.qxmd.com/read/30718326/reader-response-video-neuroimages-paraneoplastic-spinal-myoclonus-associated-with-caspr2-antibodies
#5
Philip W Tipton, Jay A van Gerpen, Robert Chen
No abstract text is available yet for this article.
February 5, 2019: Neurology
https://read.qxmd.com/read/30718325/editors-note-video-neuroimages-paraneoplastic-spinal-myoclonus-associated-with-caspr2-antibodies
#6
James E Siegler, Steven Galetta
No abstract text is available yet for this article.
February 5, 2019: Neurology
https://read.qxmd.com/read/30714278/acquired-neuromyotonia-in-thymoma-associated-myasthenia-gravis-a-clinical-and-serological-study
#7
Matteo Gastaldi, Anna De Rosa, Michelangelo Maestri, Elisabetta Zardini, Silvia Scaranzin, Melania Guida, Paola Borrelli, Ottavia Eleonora Ferraro, Vito Lampasona, Roberto Furlan, Sarosh R Irani, Patrick Waters, Bethan Lang, Angela Vincent, Enrico Marchioni, Roberta Ricciardi, Diego Franciotta
BACKGROUND: Acquired neuromyotonia can occur in patients with thymoma, alone or in association with myasthenia gravis (MG), but the clinic-prognostic significance of such comorbidity is largely unknown. We investigated clinic-pathologic features, along with the occurrence of neuromyotonia as predictors of tumor recurrence in patients with thymoma-associated myasthenia. METHODS: We retrospectively studied 268 patients with thymomatous MG. Patients with symptoms of spontaneous muscle overactivity were selected for autoantibody testing using immunohistology for neuronal cell-surface proteins and cell-based assays for CASPR2, LGI1, Glycine receptor, and Netrin-1 receptors antibodies...
February 3, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30697586/episodic-ataxia-in-caspr2-autoimmunity
#8
A Sebastian López Chiriboga, Sean Pittock
No abstract text is available yet for this article.
March 2019: Neurology® Neuroimmunology & Neuroinflammation
https://read.qxmd.com/read/30694927/nonparaneoplastic-autoimmune-cerebellar-ataxias
#9
Bastien Joubert, Jerome Honnorat
PURPOSE OF REVIEW: The current review develops the clinical presentations of nonparaneoplastic autoimmune cerebellar ataxia (ACA) and analyzes the association with autoantibodies. RECENT FINDINGS: Emerging evidence suggests that autoimmunity is involved in a significant proportion of sporadic ataxia cases. Moreover, numerous autoantibodies have recently been described in association with sporadic cerebellar ataxia, improving diagnosis and patient categorization...
January 28, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/30598502/adam22-and-adam23-modulate-the-targeting-of-the-kv1-channel-associated-protein-lgi1-to-the-axon-initial-segment
#10
Bruno Hivert, Laurène Marien, Komlan Nassirou Agbam, Catherine Faivre-Sarrailh
The distribution of voltage-gated potassium channels Kv1 at the axon initial segment (AIS) influences neuronal intrinsic excitability. Kv1.1/1.2 subunits are associated with cell adhesion molecules (CAMs), including Caspr2 and LGI1 that are implicated in autoimmune and genetic neurological diseases with seizures. In particular, mutations in the LGI1 gene cause autosomal dominant lateral temporal lobe epilepsy (ADLTE). Here, using rat hippocampal neurons in culture, we showed that LGI1 is recruited at the AIS and colocalized with ADAM22 and Kv1 channels...
December 31, 2018: Journal of Cell Science
https://read.qxmd.com/read/30543927/a-large-screen-for-paraneoplastic-neurological-autoantibodies-diagnosis-and-predictive-values
#11
Lior Seluk, Alisa Taliansky, Hagith Yonath, Boris Gilburd, Howard Amital, Yehuda Shoenfeld, Shaye Kivity
BACKGROUND: Paraneoplastic neurological syndromes (PNS) are a group of syndromes that affect the central and peripheral neuromuscular system in association with cancer. Specific antibodies may assist in the diagnosis of PNS. The antibodies tested can be classified into those directed against intracellular neuronal proteins ("well characterized" PNS: Hu, Yo, RI, CV2, amphiphysin, Ma1, Ma2) and those directed against neural surface antigens (autoimmune encephalitis syndromes: NMDA, AMPA, LGI1, CASPR2, GABAR)...
December 10, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://read.qxmd.com/read/30534626/delayed-onset-of-severe-chronic-pain-in-caspr2-autoantibody-associated-morvan-syndrome-in-a-former-uk-swine-abattoir-worker
#12
Andreas Goebel, Austen Peter Moore, Anu Jacob
Introduction: Autoantibody-mediated autoimmunity directed against targets within the voltage-gated potassium channel complex (VGKCC autoantibodies) has been implicated in causing neuropathic pain. Methods: We report the case of a 76-year-old, United Kingdom male who was diagnosed with contactin-associated protein 2 (CASPR2) autoantibody-associated Morvan syndrome, a rare neurological condition. Results: He had previously worked in a swine abattoir; exposure to aerosol within swine abattoirs has been reported to elicit an immune response resulting in the production of these autoantibodies; however, unusually, his manifestations emerged with several years' latency...
September 2018: Pain Reports (Baltimore, Md.)
https://read.qxmd.com/read/30524441/management-of-autoimmune-encephalitis-an-observational-monocentric-study-of-38-patients
#13
Stefan Macher, Friedrich Zimprich, Desiree De Simoni, Romana Höftberger, Paulus S Rommer
Over the last years the clinical picture of autoimmune encephalitis has gained importance in neurology. The broad field of symptoms and syndromes poses a great challenge in diagnosis for clinicians. Early diagnosis and the initiation of the appropriate treatment is the most relevant step in the management of the patients. Over the last years advances in neuroimmunology have elucidated pathophysiological basis and improved treatment concepts. In this monocentric study we compare demographics, diagnostics, treatment options and outcomes with knowledge from literature...
2018: Frontiers in Immunology
https://read.qxmd.com/read/30450007/-cntnap2-heterozygous-missense-variants-risk-factors-for-autism-spectrum-disorder-and-or-other-pathologies
#14
COMMENT
Giorgia Canali, Laurence Goutebroze
The CNTNAP2 gene has been proposed to be one of the major susceptibility genes for neurodevelopmental disorders, in which numerous heterozygous missense variants have been identified in patients with autism spectrum disorder (ASD). The contribution of these variants to the manifestations of ASD is however highly controversial because numerous heterozygous missense variants have also been identified in control subjects. In a recent study, we set up a sensitive developmental in vitro cell assay to clarify the potential functional impact of these variants in a heterozygous Cntnap2 background relevant for CNTNAP2 heterozygosity in patients with ASD...
2018: Journal of Experimental Neuroscience
https://read.qxmd.com/read/30449139/caspr2-encephalitis-presenting-as-post-partum-psychosis
#15
Nicola Warren, Theo Theodoros, Ravini Gunawardana, Lisa Gillinder
No abstract text is available yet for this article.
November 18, 2018: Australian and New Zealand Journal of Psychiatry
https://read.qxmd.com/read/30391660/the-prevalence-of-neural-antibodies-in-temporal-lobe-epilepsy-and-the-clinical-characteristics-of-seropositive-patients
#16
Martin Elisak, David Krysl, Jitka Hanzalova, Kamila Volna, Christian G Bien, Frank Leypoldt, Petr Marusic
PURPOSE: Epileptic seizures are a common manifestation of autoimmune encephalitis, but the role of neural antibodies in long-term epilepsy remains unclear. The aim of this study was to assess the prevalence of neural-surface antibodies (NSAbs) and antibodies against glutamic acid decarboxylase (GAD) in patients with chronic temporal lobe epilepsy (TLE). METHOD: Patients with an electro-clinical diagnosis of TLE and a disease duration longer than one year were included...
September 17, 2018: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/30390633/the-significance-of-anti-neuronal-antibodies-for-acute-psychiatric-disorders-a-retrospective-case-controlled-study
#17
Morten B Schou, Sverre Georg Sæther, Ole Kristian Drange, Karoline Krane-Gartiser, Solveig K Reitan, Arne E Vaaler, Daniel Kondziella
BACKGROUND: The clinical significance of anti-neuronal antibodies in patients with psychiatric disorders, but without encephalitis, remains unknown. In patients admitted to acute psychiatric inpatient care we aimed to identify clinical features distinguishing anti-neuronal antibody positive patients from matched controls. RESULTS: Patients who were serum-positive to N-methyl D-aspartate receptor (NMDAR) (n = 21), contactin-associated protein 2 (CASPR2) (n = 14) and/or glutamic acid decarboxylase 65 (GAD65) (n = 9) antibodies (cases) were age and sex matched (1:2) with serum-negative patients from the same cohort (controls)...
November 3, 2018: BMC Neuroscience
https://read.qxmd.com/read/30337146/structural-mapping-of-hot-spots-within-human-caspr2-discoidin-domain-for-autoantibody-recognition
#18
Wenjun Liang, Junying Zhang, Margaux Saint-Martin, Fei Xu, Nelly Noraz, Jianmei Liu, Jérôme Honnorat, Heli Liu
Accumulating evidence has showed that anti-CASPR2 autoantibodies occur in a long list of neurological immune disorders including limbic encephalitis (LE). Belonging to the well-known neurexin superfamily, CASPR2 has been suggested to be a central node in the molecular networks controlling neurodevelopment. Distinct from other subfamilies in the neurexin superfamily, the CASPR subfamily features a unique discoidin (Disc) domain. As revealed by our and others' recent studies, CASPR2 Disc domain bears a major epitope for autoantibodies...
October 15, 2018: Journal of Autoimmunity
https://read.qxmd.com/read/30283395/biomarkers-of-neurodegeneration-in-autoimmune-mediated-encephalitis
#19
Peter Körtvelyessy, Harald Prüss, Lorenz Thurner, Walter Maetzler, Deborah Vittore-Welliong, Jörg Schultze-Amberger, Hans-Jochen Heinze, Dirk Reinhold, Frank Leypoldt, Stephan Schreiber, Daniel Bittner
Progranulin (PGRN), Total-Tau (t-tau), and Neurofilament light chain (NfL) are well known biomarkers of neurodegeneration. The objective of the present study was to investigate whether these parameters represent also biomarkers in autoimmune-mediated Encephalitis (AE) and may give us insights into the pathomechanisms of AE. We retrospectively examined the concentration of PGRN in the cerebrospinal fluid (CSF) and serum of 38 patients suffering from AE in acute phase and/or under treatment. This AE cohort comprises patients with autoantibodies against: NMDAR ( n = 18 patients), Caspr2 ( n = 8), Lgi-1 ( n = 10), GABAB(R) ( n = 1), and AMPAR ( n = 1)...
2018: Frontiers in Neurology
https://read.qxmd.com/read/30265368/association-of-antibodies-against-myelin-and-neuronal-antigens-with-neuroinflammation-in-systemic-lupus-erythematosus
#20
Anne-Katrin Pröbstel, Madlaina Thanei, Barbara Erni, Anne-Catherine Lecourt, Léonore Branco, Raphaël André, Pascal Roux-Lombard, Katrin F Koenig, Uyen Huynh-Do, Camillo Ribi, Carlo Chizzolini, Ludwig Kappos, Marten Trendelenburg, Tobias Derfuss
Objectives: To determine frequency and syndrome specificity of novel and known nervous system (NS)-directed antibodies in a large, unbiased cohort of SLE patients in the Swiss SLE Cohort Study. Methods: This retrospective pilot study included 174 patients in a cross-sectional and 102 in a longitudinal study. Antibodies against 12 NS antigens [myelin oligodendrocyte glycoprotein (MOG), neurofascin 186 (NF186), aquaporin-4 (AQP4), N-methyl-D-aspartate receptor (subunit NR1) (NMDAR-NR1), α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (subunits 1 and 2) (AMPAR1/2), gamma-aminobutyric acid B receptor (subunits B1 and B2) (GABABR1/2), glutamate decarboxylase 65 (GAD65), glycine receptor (GlyR), contactin-associated protein-like 2 (CASPR2), leucine-rich glioma-inactivated 1 (LGI1), metabotropic glutamate receptor 5 (mGluR5) and dipeptidyl-peptidase-like protein 6 (DPPX)] were screened with validated cell-based assays and correlated with clinical and diagnostic findings...
September 27, 2018: Rheumatology
keyword
keyword
164728
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"