Linkage of familial essential tremor to chromosome 5q35.

Journal Article (Journal Article)

BACKGROUND: Essential tremor is a neurological condition characterized by tremor during voluntary movement. To date, 3 loci linked to familial essential tremor have been identified. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Full Text

Duke Authors

Cited Authors

  • Hicks, JE; Konidari, I; Scott, BL; Stajich, JM; Ashley-Koch, AE; Gilbert, JR; Scott, WK

Published Date

  • July 2016

Published In

Volume / Issue

  • 31 / 7

Start / End Page

  • 1059 - 1062

PubMed ID

  • 26918299

Electronic International Standard Serial Number (EISSN)

  • 1531-8257

Digital Object Identifier (DOI)

  • 10.1002/mds.26582


  • eng

Conference Location

  • United States