Genetic heterogeneity in autosomal dominant essential tremor.
OBJECTIVE
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.


CONCLUSIONS
Familial essential tremor is a common hereditary movement disorder demonstrating phenotypic variability and genetic heterogeneity.
Kovach
M J
MJ
Department of Pediatrics, Southern Illinois University School of Medicine, Springfield 62794-9658, USA.
Ruiz
J
J
Kimonis
K
K
Mueed
S
S
Sinha
S
S
Higgins
C
C
Elble
S
S
Elble
R
R
Kimonis
V E
VE
D000328:Adult; D017668:Age of Onset; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D020329:Essential Tremor / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype