Further evidence of genetic heterogeneity in familial essential tremor

Paolo Aridon, Paolo Ragonese, Maurizio De Fusco, Giuseppe Salemi, Giorgio Casari, Giovanni Savettieri

Research output: Contribution to journalArticle

Abstract

Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease.

Original languageEnglish
Pages (from-to)15-18
Number of pages4
JournalParkinsonism and Related Disorders
Volume14
Issue number1
DOIs
Publication statusPublished - Jan 2008

    Fingerprint

Keywords

  • Essential tremor
  • Linkage analysis
  • Neurological disease

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Neurology

Cite this