{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:54:40Z","timestamp":1782258880962,"version":"3.54.5"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,30]],"date-time":"2013-10-30T00:00:00Z","timestamp":1383091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G&gt;T, p.Gly144Trp) was reported in 6 patients with childhood\u2010onset progressive ataxia and myoclonus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All 5 patients had the same homozygous mutation in <jats:italic>GOSR2<\/jats:italic>. Here we present their clinical and neurophysiological data. Our patients (aged 7\u201026 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of <jats:italic>GOSR2<\/jats:italic> in patients with Ramsay Hunt syndrome, especially when they also have areflexia. \u00a9 2013 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25704","type":"journal-article","created":{"date-parts":[[2013,10,30]],"date-time":"2013-10-30T11:27:21Z","timestamp":1383132441000},"page":"139-143","source":"Crossref","is-referenced-by-count":53,"title":["Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by <i>GOSR2<\/i> mutation"],"prefix":"10.1002","volume":"29","author":[{"given":"Martje E.","family":"van Egmond","sequence":"first","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corien C.","family":"Verschuuren\u2010Bemelmans","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther A.","family":"Nibbeling","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Willem J.","family":"Elting","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Sival","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oebele F.","family":"Brouwer","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen J.","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hubertus P.","family":"Kremer","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Sinke","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina A.","family":"Tijssen","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom J.","family":"de Koning","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  The Netherlands"},{"name":"Department of Genetics University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/44.4.490"},{"key":"e_1_2_9_3_1","volume-title":"Principles and practice of movement disorders","author":"Fahn S","year":"2007"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/64.3.171"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530100091019"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21414"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.011"},{"key":"e_1_2_9_8_1","volume-title":"Parkinsonism and related disorders","author":"Wolters EC","year":"2008"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870040103"}],"container-title":["Movement 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