Linkage analysis with chromosome 9 markers in hereditary essential tremor.
Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32-34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were -19.5 for ASS and -10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.
Conway
D
D
University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London, England.
Bain
P G
PG
Warner
T T
TT
Davis
M B
MB
Findley
L J
LJ
Thompson
P D
PD
Marsden
C D
CD
Harding
A E
AE
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001124:Argininosuccinate Synthase / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D004247:DNA / Q000097:blood; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005190:Family; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011995:Recombination, Genetic; D014202:Tremor / Q000175:diagnosis / Q000235:genetics*; D014743:Videotape Recording
D004247:DNA; D001124:Argininosuccinate Synthase