title: Genetic heterogeneity in autosomal dominant essential tremor.
abstract: OBJECTIVE
  To perform linkage analysis of candidate loci in a large Midwestern family with autosomal dominant essential tremor.
  
  
  METHODS
  Thirty-eight members of a six-generation family were evaluated for essential tremor using consensus criteria. Linkage analysis was performed with microsatellite markers reported for three genetic loci associated with familial essential tremor.
  
  
  RESULTS
  Patients exhibited a combination of postural and kinetic tremor involving primarily the arms and hands, with a mean age of onset of 31 years. Genetic studies excluded linkage to ETM1 and ETM2 loci, as well as a candidate locus for parkinsonism and postural tremor on chromosome 4p.
  
  
  CONCLUSIONS
  Familial essential tremor is a common hereditary movement disorder demonstrating phenotypic variability and genetic heterogeneity.
authors.affiliation: Department of Pediatrics, Southern Illinois University School of Medicine, Springfield 62794-9658, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Kovach
authors.forename: J
authors.initials: J
authors.lastname: Ruiz
authors.forename: K
authors.initials: K
authors.lastname: Kimonis
authors.forename: S
authors.initials: S
authors.lastname: Mueed
authors.forename: S
authors.initials: S
authors.lastname: Sinha
authors.forename: C
authors.initials: C
authors.lastname: Higgins
authors.forename: S
authors.initials: S
authors.lastname: Elble
authors.forename: R
authors.initials: R
authors.lastname: Elble
authors.forename: V E
authors.initials: VE
authors.lastname: Kimonis
mesh_terms: D000328:Adult; D017668:Age of Onset; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D020329:Essential Tremor / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype