Genetics in medicine : official journal of the American College of Medical Genetics · 2001
Genetic heterogeneity in autosomal dominant essential tremor.
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Kovach M J, Ruiz J, Kimonis K, Mueed S, Sinha S, Higgins C, Elble S, Elble R, Kimonis V E
Аннотация
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.
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.