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Genetic heterogeneity in autosomal dominant essential tremor
Abstract
Purpose
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.Conclusion
Familial essential tremor is a common hereditary movement disorder demonstrating phenotypic variability and genetic heterogeneity.Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.
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