Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:30045961", "kind": "science-record", "revision": 3, "content_hash": "sha256:adbfe07bdb436a3ee0ca06c3305cbc5d6d36b0534c06e9c15b1a82a93b8807f7", "created_at": "2026-11-01T15:40:36Z", "updated_at": "2026-11-01T18:49:42Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome.", "doi": "10.1212/WNL.0000000000006035", "pmid": "30045961", "authors": ["Georgina Berridge", "David A Menassa", "Teresa Moloney", "Patrick J Waters", "Imogen Welding", "Selina Thomsen", "Sameer Zuberi", "Roman Fischer", "A Radu Aricescu", "Michael Pike", "Russell C Dale", "Benedikt Kessler", "Angela Vincent", "Ming Lim", "Sarosh R Irani", "Bethan Lang"], "journal": "Neurology", "year": 2018, "abstract": "OBJECTIVE: To identify neuronal surface antibodies in opsoclonus myoclonus ataxia syndrome (OMAS) using contemporary antigen discovery methodology.\nMETHODS: OMAS patient serum immunoglobulin G immunohistochemistry using age-equivalent rat cerebellar tissue was followed by immunoprecipitation, gel electrophoresis, and mass spectrometry. Data are available via ProteomeXchange (identifier PXD009578). This generated a list of potential neuronal surface cerebellar autoantigens. Live cell-based assays were used to confirm membrane-surface antigens and adsorb antigen-specific immunoglobulin Gs. The serologic results were compared to the clinical data.\nRESULTS: Four of the 6 OMAS sera tested bound rat cerebellar sections. Two of these sera with similar immunoreactivities were used in immunoprecipitation experiments using cerebellum from postnatal rat pups (P18). Mass spectrometry identified 12 cell-surface proteins, of which glutamate receptor δ2 (GluD2), a predominately cerebellar-expressed protein, was found at a 3-fold-higher concentration than the other 11 proteins. Antibodies to GluD2 were identified in 14/16 (87%) OMAS samples, compared with 5/139 (5%) pediatric and 1/38 (2.6%) adult serum controls (p < 0.0001), and in 2/4 sera from patients with neuroblastoma without neurologic features. Adsorption of positive OMAS sera against GluD2-transfected cells substantially reduced but did not eliminate reactivity toward cerebellar sections.\nCONCLUSION: Autoantibodies to GluD2 are common in patients with OMAS, bind to surface determinants, and are potentially pathogenic.", "claims": [{"id": "claim-data-access", "statement": "Supplementary data are available from Dryad, doi.org/10.5061/dryad.tq61224. The mass spectrometry proteomics data have been deposited to the ProteomeXchange Consortium via the PRIDE partner repository19,20 with the dataset identifier PXD009578.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:30045961", "locator": "sections[13] \"Data availability\" paragraph 2", "quote": "Supplementary data are available from Dryad, doi.org/10.5061/dryad.tq61224. The mass spectrometry proteomics data have been deposited to the ProteomeXchange Consortium via the PRIDE partner repository19,20 with the dataset identifier PXD009578."}], "state": "complete"}, {"id": "claim-target-result", "statement": "Autoantibodies to GluD2 are common in patients with OMAS, bind to surface determinants, and are potentially pathogenic.", "kind": "quantitative", "target": {"value": 0.0001, "unit": "p-value", "tolerance": null, "source": "Antibodies to GluD2 were identified in 14/16 (87%) OMAS samples, compared with 5/139 (5%) pediatric and 1/38 (2.6%) adult serum controls (p < 0.0001), and in 2/4 sera from patients with neuroblastoma without neurologic features."}, "evidence": [{"asset": "source:pmid:30045961", "locator": "sections[0] \"Abstract\" paragraph 3", "quote": "Antibodies to GluD2 were identified in 14/16 (87%) OMAS samples, compared with 5/139 (5%) pediatric and 1/38 (2.6%) adult serum controls (p < 0.0001), and in 2/4 sera from patients with neuroblastoma without neurologic features."}, {"asset": "source:pmid:30045961", "locator": "sections[16] \"GluD2-specific autoantibodies\" paragraph 4", "quote": "only 5 of 139 (3.6%) of the pediatric neurologic controls had GluD2 antibodies (Rasmussen encephalitis 2/23, new-onset epilepsy 0/78, autoimmune encephalitis 3/38; p < 0.0001, Fisher exact test)"}, {"asset": "source:pmid:30045961", "locator": "sections[16] \"GluD2-specific autoantibodies\" paragraph 4", "quote": "data available from Dryad, table 3, doi.org/10.5061/dryad.tq61224"}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "Autoantibodies to GluD2 are common in patients with OMAS, bind to surface determinants, and are potentially pathogenic.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:30045961"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. 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