{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:41:21Z","timestamp":1760960481016,"version":"build-2065373602"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,1,28]],"date-time":"2015-01-28T00:00:00Z","timestamp":1422403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"German Ministry of Education and Research","award":["01EY1103"],"award-info":[{"award-number":["01EY1103"]}]},{"name":"APTES association"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2015,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We analyzed the coding region of the Fused in Sarcoma (<jats:italic>FUS<\/jats:italic>) gene in familial essential tremor (ET) and reviewed previous studies assessing <jats:italic>FUS<\/jats:italic> variants in ET.<\/jats:p><\/jats:sec><jats:sec><jats:title>Background<\/jats:title><jats:p>ET is often a familial disorder with an autosomal dominant inheritance pattern. A potentially causative variant in <jats:italic>FUS<\/jats:italic> has been identified in one ET family. Subsequent studies described further putatively causal variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed DNA sequencing of <jats:italic>FUS<\/jats:italic> in 85 unrelated, familial German and French definite ET patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We did not find novel variants affecting the protein sequence. Seven previously published studies and data from the exome variant server (EVS) showed that rare exonic variants in <jats:italic>FUS<\/jats:italic> are not more frequent in ET than in the general population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings provide no evidence for a role of rare genetic variants in the pathogenesis of ET, apart from the initially published <jats:italic>FUS<\/jats:italic> mutation segregating in a large ET family. \u00a9 2015 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26145","type":"journal-article","created":{"date-parts":[[2015,1,28]],"date-time":"2015-01-28T14:07:21Z","timestamp":1422454041000},"page":"721-724","source":"Crossref","is-referenced-by-count":11,"title":["The impact of rare variants in <i>FUS<\/i> in essential tremor"],"prefix":"10.1002","volume":"30","author":[{"given":"Franziska","family":"Hopfner","sequence":"first","affiliation":[{"name":"Department of Neurology University Hospital Schleswig Holstein Kiel Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[{"name":"INSERM U 1127 F\u201075013 Paris France"},{"name":"CNRS UMR 7225 F\u201075013 Paris France"},{"name":"Sorbonne Universit\u00e9s, UPMC Univ Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re\u2014ICM H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re F\u201075013 Paris France"},{"name":"Ecole Pratique des Hautes Etudes Neurogenetics team, ICM, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re F\u201075013 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie H.","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital 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du Cerveau et de la Moelle \u00e9pini\u00e8re\u2014ICM H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re F\u201075013 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Pendziwiat","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Medical Center Schleswig\u2010Holstein (UKSH) Kiel Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[{"name":"INSERM U 1127 F\u201075013 Paris France"},{"name":"CNRS UMR 7225 F\u201075013 Paris France"},{"name":"Sorbonne Universit\u00e9s, UPMC Univ Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re\u2014ICM H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re F\u201075013 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne A.","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Neurology University 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