Linkage of familial essential tremor to chromosome 5q35

James E. Hicks, Ioanna Konidari, Burton L. Scott, Jeffrey M. Stajich, Allison E. Ashley-Koch, John Gilbert, William K Scott

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1059-1062
Number of pages4
JournalMovement Disorders
Volume31
Issue number7
DOIs
StatePublished - Jul 1 2016

Keywords

  • essential tremor
  • genetic epidemiology
  • genetics
  • linkage analysis
  • neurodegeneration

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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  • Cite this

    Hicks, J. E., Konidari, I., Scott, B. L., Stajich, J. M., Ashley-Koch, A. E., Gilbert, J., & Scott, W. K. (2016). Linkage of familial essential tremor to chromosome 5q35. Movement Disorders, 31(7), 1059-1062. https://doi.org/10.1002/mds.26582