Steroid-responsive focal epilepsy with focal dystonia accompanied by glutamate receptor delta2 antibody

Matsumoto, Hideyuki; Okabe, Shingo; Hirakawa-Yamada, Minako; Takahashi, Yukitoshi; Satoh, Noboru; Igeta, Yukifusa; Hashida, Hideji

doi:10.1016/j.jneuroim.2012.04.009

Cited by 9 publications

(5 citation statements)

References 16 publications

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“…The information about the history of the patients' therapy was scarce as well. In particular, only six patients (2%) reported a certain previous treatment for syphilis, but for two of them it was unclear whether such therapy was completed and even if it was a standard one . A total of 171 patients, that is, 60%, denied the occurrence of previous skin or mucous lesions; so we must assume that they have not received any therapy for early syphilis.…”

Section: Resultsmentioning

confidence: 99%

“…Indeed, the suggestion that a standard therapy with penicillin G benzathine (BPG) in early syphilis may not be sufficient to prevent NS, has been already advanced and supported by cases of BPG failures and by late complications in immunocompetent patients adequately treated for early disease . In a recent study, 17 patients progressed to NS despite appropriate treatments and serological response understood as of a fourfold decrease in their RPR titres within 6 months from therapy .…”

Section: Discussionmentioning

confidence: 99%

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Changes in neurosyphilis presentation: a survey on 286 patients

Drago

Merlo

Ciccarese

et al. 2016

Acad Dermatol Venereol

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Although neurosyphilis (NS) keeps plaguing worldwide, often with oligosymptomatic and atypical manifestations, the most recent reports fail to provide useful information, like details of the clinical history and even of the previous early therapy. We conducted a survey of the literature of the last 5 years on the clinical presentation of NS, recording the aforementioned inaccuracies. One hundred and thirty-seven articles were collected, reporting on 286 patients. General paresis was the commonest form (49%), often manifesting with cognitive impairment and psychiatric symptoms. Syphilitic meningitis was found in 63 patients (22%), mainly with ocular or auditory involvement. Meningovascular and tabetic form were both found in 12% of cases. Gummatous and epileptic manifestations were rare. Perusal of the literature confirms that NS prevalence is increasing, often with manifestations that are atypical for timing and type of lesions. Unfortunately, many articles are lacking of critical information, like an accurate clinical history and timing of the therapy making difficult to assess the effectiveness of penicillin in preventing NS.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Changes in neurosyphilis presentation: a survey on 286 patients

Drago

Merlo

Ciccarese

et al. 2016

Acad Dermatol Venereol

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“…This fits with the progressive Purkinje cell loss in moonwalker mice whose TRPC3 channel is mutated such that cannot be phosphorylated and inactivated by PKC␥ (Becker et al, 2009). Furthermore, auto-antibodies to GluR␦2 are found in patients with acute cerebellar ataxia, acute cerebellitis, and steroid-responsive chronic cerebellitis (Shiihara et al, 2007;Shimokaze et al, 2007;Kubota and Takahashi, 2008;Fukuoka et al, 2012;Kinno et al, 2012;Matsumoto et al, 2012). Also, auto-antibodies to mGluR1 are associated with neoplastic cerebellar ataxia (Marignier et al, 2010;Sillevis Smitt et al, 2000;Coesmans et al, 2003).…”

Section: Physiological Relevance Of Glur␦2-mglur1-pkc␥-trpc3 Interactmentioning

confidence: 99%

Glutamate Receptor δ2 Associates with Metabotropic Glutamate Receptor 1 (mGluR1), Protein Kinase Cγ, and Canonical Transient Receptor Potential 3 and Regulates mGluR1-Mediated Synaptic Transmission in Cerebellar Purkinje Neurons

Kato¹,

Knierman²,

Siuda³

et al. 2012

J. Neurosci.

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Cerebellar motor coordination and cerebellar Purkinje cell synaptic function require metabotropic glutamate receptor 1 (mGluR1, Grm1). We used an unbiased proteomic approach to identify protein partners for mGluR1 in cerebellum and discovered glutamate receptor ␦2 (GluR␦2, Grid2, Glu⌬2) and protein kinase C␥ (PKC␥) as major interactors. We also found canonical transient receptor potential 3 (TRPC3), which is also needed for mGluR1-dependent slow EPSCs and motor coordination and associates with mGluR1, GluR␦2, and PKC␥. Mutation of GluR␦2 changes subcellular fractionation of mGluR1 and TRPC3 to increase their surface expression. Fitting with this, mGluR1-evoked inward currents are increased in GluR␦2 mutant mice. Moreover, loss of GluR␦2 disrupts the time course of mGluR1-dependent synaptic transmission at parallel fiber-Purkinje cells synapses. Thus, GluR␦2 is part of the mGluR1 signaling complex needed for cerebellar synaptic function and motor coordination, explaining the shared cerebellar motor phenotype that manifests in mutants of the mGluR1 and GluR␦2 signaling pathways.

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“…[36][37][38] Unlike the GluK2-abs reported here, the clinical or pathogenic significance of glutamate receptor delta 2 antibodies is unclear as they have also been described in multiple different disorders. [39][40][41] In contrast to the group of patients with GluK2-only or predominant antibodies, none of the 6 patients with GluK2-abs concurrent with anti-AMPAR encephalitis (with or without CRMP5 antibodies) or anti-NMDAR encephalitis, and none of the additional randomly selected 138 patients with anti-NMDAR or AMPAR encephalitis, developed acute cerebellitis, obstructive hydrocephalus, or opsoclonusmyoclonus (data not shown). However, some of these features, such as cerebellar dysfunction with AMPAR antibodies, 8 or opsoclonus with NMDAR antibodies, 42,43 have been reported and it is unknown whether they had GluK2-abs.…”

Section: Discussionmentioning

confidence: 92%

Encephalitis with Autoantibodies against the Glutamate Kainate Receptors GluK2

Landa

Guasp

Míguez-Cabello

et al. 2021

Annals of Neurology

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Objective: The objective of this study was to report the identification of antibodies against the glutamate kainate receptor subunit 2 (GluK2-abs) in patients with autoimmune encephalitis, and describe the clinical-immunological features and antibody effects. Methods: Two sera from 8 patients with similar rat brain immunostaining were used to precipitate the antigen from neuronal cultures. A cell-based assay (CBA) with GluK2-expressing HEK293 cells was used to assess 596 patients with different neurological disorders, and 23 healthy controls. GluK2-ab effects were determined by confocal microscopy in cultured neurons and electrophysiology in GluK2-expressing HEK293 cells. Results: Patients' antibodies precipitated GluK2. GluK2 antibody-specificity was confirmed by CBA, immunoprecipitation, GluK2-immunoabsorption, and GluK2 knockout brain immunohistochemistry. In 2 of 8 samples, antibodies reacted with additional GluK2 epitopes present in GluK1 or GluK3; in both, the reactivity was abrogated after GluK2 immuno-absorption. Six of 8 patients developed acute encephalitis and clinical or magnetic resonance imaging (MRI) features of predominant cerebellar involvement (4 presenting as cerebellitis, which in 2 patients caused obstructive hydrocephalus), and 2 patients had other syndromes (1 with cerebellar symptoms). One of the samples showed mild reactivity with non-kainate receptors (alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors [AMPAR] and N-methyl-D-aspartate receptors [NMDAR]) leading to identify 6 additional cases with GluK2-abs among patients with anti-AMPAR (5/71

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Steroid-responsive focal epilepsy with focal dystonia accompanied by glutamate receptor delta2 antibody

Cited by 9 publications

References 16 publications

Changes in neurosyphilis presentation: a survey on 286 patients

Changes in neurosyphilis presentation: a survey on 286 patients

Glutamate Receptor δ2 Associates with Metabotropic Glutamate Receptor 1 (mGluR1), Protein Kinase Cγ, and Canonical Transient Receptor Potential 3 and Regulates mGluR1-Mediated Synaptic Transmission in Cerebellar Purkinje Neurons

Encephalitis with Autoantibodies against the Glutamate Kainate Receptors GluK2

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