title: Linkage of familial essential tremor to chromosome 5q35.
abstract: Essential tremor is a neurological condition characterized by tremor during voluntary movement. To date, 3 loci linked to familial essential tremor have been identified.
  
  
  
  We examined 48 essential tremor patients in 5 large essential tremor pedigrees in our data set for genetic linkage using an Affymetrix Axiom array. Linkage analysis was performed using an affecteds-only dominant model in SIMWALK2. To incorporate all genotype information, GERMLINE was used to identify genome segments shared identical-by-descent in pairs of affecteds. Exome sequencing was performed in pedigrees showing evidence of linkage.
  
  
  
  For one family, chromosomes 5 and 18 showed genome-wide significant linkage to essential tremor. Shared segment analysis excluded the 18p11 candidate region and reduced the 5q35 region by 1 megabase. Exome sequencing did not identify a potential causative variant in this region.
  
  
  
  A locus on chromosome 5 is linked to essential tremor. Further research is needed to identify a causative variant. © 2016 International Parkinson and Movement Disorder Society.
authors.affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.|Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
authors.forename: James E
authors.initials: JE
authors.lastname: Hicks
authors.affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.|Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
authors.forename: Ioanna
authors.initials: I
authors.lastname: Konidari
authors.affiliation: Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: Burton L
authors.initials: BL
authors.lastname: Scott
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Stajich
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: Allison E
authors.initials: AE
authors.lastname: Ashley-Koch
authors.affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.|Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
authors.forename: John R
authors.initials: JR
authors.lastname: Gilbert
authors.affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.|Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
authors.forename: William K
authors.initials: WK
authors.lastname: Scott
mesh_terms: D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D020329:Essential Tremor / Q000235:genetics*; D008040:Genetic Linkage; D056426:Genetic Loci; D006801:Humans; D010375:Pedigree
keywords: essential tremor; genetic epidemiology; genetics; linkage analysis; neurodegeneration