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Genetic heterogeneity in autosomal dominant essential tremor
M J Kovach1, J Ruiz, K Kimonis
1Department of Pediatrics, Southern Illinois University School of Medicine, Springfield 62794-9658, USA.
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.