title: The impact of rare variants in FUS in essential tremor.
abstract: OBJECTIVE
  We analyzed the coding region of the Fused in Sarcoma (FUS) gene in familial essential tremor (ET) and reviewed previous studies assessing FUS variants in ET.
  
  
  BACKGROUND
  ET is often a familial disorder with an autosomal dominant inheritance pattern. A potentially causative variant in FUS has been identified in one ET family. Subsequent studies described further putatively causal variants.
  
  
  METHODS
  We performed DNA sequencing of FUS in 85 unrelated, familial German and French definite ET patients.
  
  
  RESULTS
  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 FUS are not more frequent in ET than in the general population.
  
  
  CONCLUSIONS
  Our findings provide no evidence for a role of rare genetic variants in the pathogenesis of ET, apart from the initially published FUS mutation segregating in a large ET family.
authors: Department of Neurology, University Hospital Schleswig Holstein, Kiel, Germany.
authors: Franziska
authors: F
authors: Hopfner
authors: Giovanni
authors: G
authors: Stevanin
authors: Stefanie H
authors: SH
authors: Müller
authors: Emeline
authors: E
authors: Mundwiller
authors: May
authors: M
authors: Bungeroth
authors: Alexandra
authors: A
authors: Durr
authors: Manuela
authors: M
authors: Pendziwiat
authors: Mathieu
authors: M
authors: Anheim
authors: Susanne A
authors: SA
authors: Schneider
authors: Lukas
authors: L
authors: Tittmann
authors: Stephan
authors: S
authors: Klebe
authors: Delia
authors: D
authors: Lorenz
authors: Günther
authors: G
authors: Deuschl
authors: Alexis
authors: A
authors: Brice
authors: Gregor
authors: G
authors: Kuhlenbäumer
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D016206:Databases, Bibliographic / Q000706:statistics & numerical data; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D005602:France; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: C000599550:FUS protein, human; D034702:RNA-Binding Protein FUS
keywords: FUS; essential tremor; genetics; meta-analysis; tremor