{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:57:08Z","timestamp":1762459028209},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T00:00:00Z","timestamp":1351728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2013,3]]},"abstract":"Background and purpose<\/jats:title>Although essential tremor (ET<\/jats:styled-content>) has a genetic basis, specific genes have not been identified. Recently, in a large ET<\/jats:styled-content> family (FET<\/jats:styled-content>1) from Q<\/jats:styled-content>uebec, a non\u2010sense mutation (p.Q<\/jats:styled-content>290X<\/jats:styled-content>) in the amyotrophic lateral sclerosis (ALS<\/jats:styled-content>) gene fused in sarcoma\/translated in liposarcoma<\/jats:italic> (FUS<\/jats:italic><\/jats:styled-content>\/TLS<\/jats:italic><\/jats:styled-content>) was identified by exome sequencing. No confirmatory studies have been published.<\/jats:p><\/jats:sec>Methods<\/jats:title>Two\u2010hundred and fifty\u2010nine ET<\/jats:styled-content> cases and 262 controls were enrolled in a study at C<\/jats:styled-content>olumbia U<\/jats:styled-content>niversity. We performed a comprehensive analysis of the FUS<\/jats:italic><\/jats:styled-content>\/TLS<\/jats:italic><\/jats:styled-content> gene by sequencing all exons in a subsample of 116 ET<\/jats:styled-content> cases with early\u2010onset (\u226440\u00a0years) ET<\/jats:styled-content>. We evaluated an association between ET<\/jats:styled-content> and SNP<\/jats:styled-content>s in the FUS<\/jats:italic><\/jats:styled-content>\/TLS<\/jats:italic><\/jats:styled-content> gene by genotyping four haplotype tagging SNP<\/jats:styled-content>s in all 259 ET<\/jats:styled-content> cases and 262 controls. Additionally, seven variants associated with ALS<\/jats:styled-content>, two variants of unknown pathogenicity detected in ALS<\/jats:styled-content> cases, eight mis\u2010sense variants predicted to be damaging, and six rare variants were genotyped in these 259 ET<\/jats:styled-content> cases and 262 controls.<\/jats:p><\/jats:sec>Results<\/jats:title>FUS<\/jats:italic><\/jats:styled-content>\/TLS<\/jats:italic><\/jats:styled-content> mutations previously reported in ALS<\/jats:styled-content>, the FET<\/jats:styled-content>1 family, or novel mutations were not found in any of the 116 early\u2010onset ET<\/jats:styled-content> cases. In the case\u2013control analyses, although the power of the performed associations was limited, no significant association between tagging SNP<\/jats:styled-content>s in FUS<\/jats:italic><\/jats:styled-content>\/TLS<\/jats:italic><\/jats:styled-content> and ET<\/jats:styled-content> was observed, and none of the analyzed SNP<\/jats:styled-content>s showed evidence of association with ET<\/jats:styled-content>.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our study suggests that pathogenic mutations in FUS<\/jats:italic><\/jats:styled-content>\/TLS<\/jats:italic><\/jats:styled-content> are rare in a sample of early\u2010onset ET<\/jats:styled-content> cases in N<\/jats:styled-content>orth A<\/jats:styled-content>merica. We did not find evidence that the FUS<\/jats:italic><\/jats:styled-content>\/TLS<\/jats:italic><\/jats:styled-content> gene is a risk factor for ET<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12023","type":"journal-article","created":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T05:08:03Z","timestamp":1351746483000},"page":"534-539","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Genetic analysis of the FUS<\/i><\/scp>\/TLS<\/i><\/scp> gene in essential tremor"],"prefix":"10.1111","volume":"20","author":[{"given":"N.","family":"Parmalee","sequence":"first","affiliation":[{"name":"Taub Institute for Research on Alzheimer's Disease and the Aging Brain Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Mirzozoda","sequence":"additional","affiliation":[{"name":"Taub Institute for Research on Alzheimer's Disease and the Aging Brain Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kisselev","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Merner","sequence":"additional","affiliation":[{"name":"Centre of Excellence in Neurosciences CHUM Research Center Department of Medicine Universit\u00e9 de Montr\u00e9al Montr\u00e9al QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Dion","sequence":"additional","affiliation":[{"name":"Centre of Excellence in Neurosciences CHUM Research Center Department of Medicine Universit\u00e9 de Montr\u00e9al Montr\u00e9al QC Canada"},{"name":"Department of Pathology and Cellular Biology Universit\u00e9 de Montr\u00e9al Montr\u00e9al QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Rouleau","sequence":"additional","affiliation":[{"name":"Centre of Excellence in Neurosciences CHUM Research Center Department of Medicine Universit\u00e9 de Montr\u00e9al Montr\u00e9al QC Canada"},{"name":"Research Center CHU Sainte\u2010Justine Montr\u00e9al QC Canada"},{"name":"CHUM and the Department of Medicine Universit\u00e9 de Montr\u00e9al Montr\u00e9al QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Clark","sequence":"additional","affiliation":[{"name":"Taub Institute for Research on Alzheimer's Disease and the Aging Brain Columbia University New York NY USA"},{"name":"Department of Pathology and Cell Biology Columbia University New York NY USA"},{"name":"Center for Human Genetics Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. 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