{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:37:53Z","timestamp":1761896273618,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2016,2,22]]},"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:p>Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant condition caused by mutations in the <jats:italic>TNFRSF1A<\/jats:italic> gene. It is characterised by recurrent episodes of myalgia, followed by prolonged fever, migratory rashes, headache, serositis, arthralgia, abdominal pain and periorbital oedema. We describe a 49-year-old man with a self-limiting episode of paraparesis who reported recurrent bouts of abdominal symptoms and headaches since childhood. He had a persistent inflammatory response with night sweats and weight loss. We diagnosed TRAPS 2\u2005years after having identified a <jats:italic>TNFRSF1A<\/jats:italic> gene mutation. His symptoms and inflammatory response resolved dramatically with the interleukin-1 receptor antagonist anakinra.<\/jats:p>","DOI":"10.1136\/practneurol-2015-001342","type":"journal-article","created":{"date-parts":[[2016,3,10]],"date-time":"2016-03-10T23:32:49Z","timestamp":1457652769000},"page":"304-307","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS)"],"prefix":"10.1136","volume":"16","author":[{"given":"Ali","family":"Kirresh","sequence":"first","affiliation":[{"name":"Department of Neurology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Everitt","sequence":"additional","affiliation":[{"name":"Department of Neurology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Onn Min","family":"Kon","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ranan","family":"DasGupta","sequence":"additional","affiliation":[{"name":"Department of Urology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew C","family":"Pickering","sequence":"additional","affiliation":[{"name":"Centre for Complement and Inflammation Research, Imperial College, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen J","family":"Lachmann","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, University College London, Royal Free Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,3,10]]},"reference":[{"key":"2025090409173043000_16.4.304.1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-204184"},{"key":"2025090409173043000_16.4.304.2","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s00109-014-1150-5","article-title":"Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases","volume":"92","author":"Bachetti","year":"2014","journal-title":"J Mol Med"},{"key":"2025090409173043000_16.4.304.3","doi-asserted-by":"publisher","DOI":"10.1002\/art.21964"},{"key":"2025090409173043000_16.4.304.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2011.04484.x"},{"key":"2025090409173043000_16.4.304.5","doi-asserted-by":"publisher","DOI":"10.1038\/35094583"},{"key":"2025090409173043000_16.4.304.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63438-4"},{"key":"2025090409173043000_16.4.304.7","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2011-201268"},{"key":"2025090409173043000_16.4.304.8","doi-asserted-by":"publisher","DOI":"10.1002\/art.23475"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2015-001342","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T16:17:40Z","timestamp":1757002660000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2015-001342"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,10]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2016,7,14]]},"published-print":{"date-parts":[[2016,8]]}},"alternative-id":["10.1136\/practneurol-2015-001342"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2015-001342","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2016,3,10]]}}}