Glycine receptor antibodies in 2 cases of new, adult-onset epilepsy

Zuliani, Luigi; Ferlazzo, Edoardo; Andrigo, Cinzia; Casano, Alessandro; Cianci, Vittoria; Zoccarato, Marco; Leite, Maria Isabel; Waters, Patrick; Woodhall, Mark; Mora, Ernesto Della; Morra, M; Giometto, Bruno; Aguglia, Umberto; Vincent, Angela

doi:10.1212/nxi.0000000000000016

Cited by 16 publications

(14 citation statements)

References 7 publications

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“…Epilepsy and encephalopathy, however, were also reported to be part of the initial syndrome in 36% of cases in the Carvajal-Gonz alez paper [12]. Subsequently, other phenotypes were identified in individual patients with seizures [14][15][16][17][18] and in epilepsy populations [20,21].…”

Section: Discussionmentioning

confidence: 99%

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Antiglycine receptor antibody related disease: a case series and literature review

Swayne

Tjoa

Broadley

et al. 2018

Euro J of Neurology

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Background and purposeAntibodies to glycine receptors (GlyR‐Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM) but were subsequently identified in other clinical presentations. Our aim was to assess the clinical associations of all patients identified with GlyR‐Abs in Queensland, Australia, between April 2014 and May 2017 and to compare these to cases reported in the literature.MethodsA literature review identified the clinical features of all published GlyR‐Ab‐positive cases through online databases. A case series was undertaken via collection of clinical information from all patients diagnosed or known to immunology, pathology or neurological services in Queensland during the study period of 3 years.ResultsIn all, 187 GlyR‐Ab‐positive cases were identified in the literature. The majority (47.6%) had PERM, 22.4% had epilepsy, but the remaining 30% included mixed phenotypes consisting of cerebellar ataxia, movement disorders, demyelination and encephalitis/cognitive dysfunction. By contrast, in our series of 14 cases, eight had clinical presentations consistent with seizures and epilepsy and only three cases had classical features of PERM. There was one case each of global fatiguable weakness with sustained clonus, laryngeal dystonia and movement disorder with hemiballismus and tics. The rate of response to immune therapy was similar in all groups.ConclusionAntibodies to glycine receptors are linked to a spectrum of neurological disease. The results of the literature review and our case series suggest a greater relationship between GlyR‐Abs and epilepsy than previously reported.

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Section: Discussionmentioning

confidence: 99%

“…More recently, however, there have been case reports describing GlyR-Abs in patients with epilepsy, responsive to immunotherapy in both adults [14,15] and children [16][17][18]. In addition, GlyR-Abs have been found in retrospective case series of epilepsy patients screened for the presence of antineuronal antibodies [17][18][19].…”

Section: Introductionmentioning

confidence: 99%

Antiglycine receptor antibody related disease: a case series and literature review

Swayne

Tjoa

Broadley

et al. 2018

Euro J of Neurology

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“…[38**,44] The AE that most frequently manifest with seizures and status epilepticus are those mediated by antibodies against the γ-aminobutyric acid receptor A (GABA A R), GABA B R and LGI1. [37,45–47, 48**,49,50*,51,52*] However, seizures can occur with any form of AE including those with antibodies against NMDAR, [44,53–55] α-amino-3-hydroxy-5methyl-4-isoxazolepropionic acid receptor (AMPAR), [56,57*] CASPR2, [39*,40**] dipeptidyl-peptidase-like protein-6 (DPPX), [58–60] metabotropic glutamate receptor 5 (mGluR5), [61–63] glycine receptor (GlyR)[64,65] and neurexin3α. [66*] Although seizures are not always the presenting symptom, they occur in the majority of patients during the acute or early stages of the disease (Table 1).…”

Section: Introductionmentioning

confidence: 99%

Seizures and risk of epilepsy in autoimmune and other inflammatory encephalitis

Spatola

Dalmau

2017

Current Opinion in Neurology

147

137

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Purpose of review To assess the seizure manifestations and risk of epilepsy in encephalitis associated to antibodies against neuronal cell-surface (AE) or myelin-associated antigens, and to review several chronic epileptic disorders including, Rasmussen’s encephalitis (RE), fever-induced refractory epileptic syndromes (FIRES), and new-onset refractory status epilepticus (NORSE). Recent findings Seizures are a frequent manifestation of AE. Some AE may associate with characteristic features: faciobrachial dystonic seizures (anti-LGI1 encephalitis), EEG extreme delta brush (anti-NMDAR), or multifocal FLAIR-MRI abnormalities (anti-GABAAR). In anti-LGI1 encephalitis, cortical, limbic, and basal ganglia dysfunction results in different types of seizures. AE or myelin-antibody associated syndromes are often immunotherapy-responsive and appear to have a low risk for chronic epilepsy. In contrast patients with seizures related to GAD65-antibodies (an intracellular antigen) frequently develop epilepsy and have suboptimal response to treatment (including surgery). RE or FIRES may occur with autoantibodies of unclear significance and rarely respond to immunotherapy. A study of patients with NORSE showed that 30% developed chronic epilepsy. Summary Although seizures are frequent in all types of AE, the risk for chronic epilepsy is dependent on the antigen: lower if located on the cell-surface, and higher if intracellular. For other disorders (RE, FIRES, NORSE) the prognosis remains poor.

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“…[39,42,57,58] GlyR antibodies may be detected in both serum and/or the CSF. [39,59] CSF evaluation is possibly more sensitive than serum, therefore testing both is recommended. [42] CSF lymphocytic pleocytosis or raised protein may be seen, and oligoclonal bands were negative in 50-70% of 2 case series recently published.…”

Section: Glyr Antibody Encephalitismentioning

confidence: 99%

“…EEG may be normal, or show features of focal or generalized ictal activity. [59] A combination of immunotherapies (corticosteroids, IVIg, PLEX, cyclophosphamide), pharmacological therapies targeting symptoms of motor hyperexcitability and pain (clonazepam, diazepam, baclofen, gabapentin), and anticonvulsants (levetiracetam) are required to control clinical symptoms. [39,42] Eighty percent of patients with GlyR antibodies showed a substantial response to immunotherapy.…”

Section: Glyr Antibody Encephalitismentioning

confidence: 99%

Encephalitis associated with autoantibodies binding to g-aminobutyric acid-A, g-aminobutyric acid-B and glycine receptors: immunopathogenic mechanisms and clinical characteristics

Quek¹,

O’Toole²

2015

Neuroimmunol Neuroinflammation

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Recent, discoveries of neural antibodies have facilitated the diagnosis of immune-mediated, immunotherapy-responsive neurologic disorders. Antibodies that target inhibitory central nervous system receptors, such as γ-aminobutyric acid-B, γ-aminobutyric acid-A, and glycine receptors, disrupt inhibitory regulatory synaptic functions, and lead to neuronal hyperexcitability. The myriad of neurologic, manifestations associated with these antibodies includes seizures, encephalopathy, muscle rigidity and stiffness. This article provides a review of the immunopathogenic mechanisms and the clinical and therapeutic implications of autoimmune encephalitis associated with these antibodies that target inhibitory receptors.

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Glycine receptor antibodies in 2 cases of new, adult-onset epilepsy

Cited by 16 publications

References 7 publications

Antiglycine receptor antibody related disease: a case series and literature review

Antiglycine receptor antibody related disease: a case series and literature review

Seizures and risk of epilepsy in autoimmune and other inflammatory encephalitis

Encephalitis associated with autoantibodies binding to g-aminobutyric acid-A, g-aminobutyric acid-B and glycine receptors: immunopathogenic mechanisms and clinical characteristics

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