{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:21:55Z","timestamp":1753878115643,"version":"3.41.2"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T00:00:00Z","timestamp":1713225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Cryopyrin\u2010associated periodic syndrome is a rare autoinflammatory disease caused by gain\u2010of\u2010function mutations or variants in the <jats:italic>NLRP3<\/jats:italic> gene. Clinically, patients suffer from a broad spectrum of both systemic and neurological symptoms. The aim of this study was to determine whether systemic inflammation demonstrated by serum amyloid A (SAA) elevation is associated with neuroinflammation assessed by optical coherence tomography (OCT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thirty eyes of 15 patients with NLRP3 low penetrance mutations (PwNLRP3) and 20 eyes of 10 age\u2010 and sex\u2010matched healthy controls were examined by spectral\u2010domain OCT as part of routine clinical care. All retinal layers and clinical features were evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>At baseline no significant retinal neuroaxonal inflammation or degeneration was observed in all measured retinal layers amongst PwNLRP3 compared with healthy controls. In a pooled analysis of all individual OCT time points a significant difference regarding the macular retinal nerve fibre layer was detected. Increased levels of SAA showed a positive association with averaged combined outer plexiform layer and outer nuclear layer volumes (<jats:italic>\u03c1<\/jats:italic>\u2009&lt;\u20090.0001, <jats:italic>r<\/jats:italic><jats:sup>2<\/jats:sup>\u2009=\u20090.35).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In cryopyrin\u2010associated periodic syndrome increased combined outer plexiform layer and outer nuclear layer volumes are mirrored by SAA increase, an acute phase reactant indicating systemic inflammation. Our findings identify OCT as a candidate biomarker to monitor subclinical neuroinflammation and to assess disease activity in PwNLRP3.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16301","type":"journal-article","created":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T06:15:16Z","timestamp":1713334516000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Optical coherence tomography assessment of disease activity in cryopyrin\u2010associated periodic syndrome"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0721-8072","authenticated-orcid":false,"given":"E.","family":"Mulazzani","sequence":"first","affiliation":[{"name":"Institute of Clinical Neuroimmunology LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"B\u00f6hm","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neuroimmunology LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Christmann","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neuroimmunology LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Krumbholz","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pain Treatment, Immanuel Klinik R\u00fcdersdorf University Hospital of the Brandenburg Medical School Theodor Fontane  R\u00fcdersdorf bei Berlin Germany"},{"name":"Faculty of Health Sciences Brandenburg Brandenburg Medical School Theodor Fontane  R\u00fcdersdorf bei Berlin Germany"},{"name":"Department of Neurology and Stroke University Hospital of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"K\u00fcmpfel","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neuroimmunology LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4386-1340","authenticated-orcid":false,"given":"J.","family":"Havla","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neuroimmunology LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng756"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.01.040"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12965"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12974-020-01867-5"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXI.0000000000000109"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002774"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/1352458514538110"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000012125"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2019-215048"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-91315-y"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30278-8"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-020-03076-7"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1076\/ocii.10.1.27.10328"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep20998"}],"container-title":["European 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Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.16301","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T12:17:43Z","timestamp":1717762663000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.16301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,16]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1111\/ene.16301"],"URL":"https:\/\/doi.org\/10.1111\/ene.16301","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"type":"print","value":"1351-5101"},{"type":"electronic","value":"1468-1331"}],"subject":[],"published":{"date-parts":[[2024,4,16]]},"assertion":[{"value":"2024-01-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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