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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Genetic heterogeneity in autosomal dominant essential tremor.

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.[1]

References

  1. Genetic heterogeneity in autosomal dominant essential tremor. Kovach, M.J., Ruiz, J., Kimonis, K., Mueed, S., Sinha, S., Higgins, C., Elble, S., Elble, R., Kimonis, V.E. Genet. Med. (2001) [Pubmed]
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