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Linkage analysis with chromosome 9 markers in hereditary essential tremor
Author(s) -
Conway D.,
Bain P. G.,
Warner T. T.,
Davis M. B.,
Findley L. J.,
Thompson P. D.,
Marsden C. D.,
Harding A. E.
Publication year - 1993
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870080324
Subject(s) - locus (genetics) , penetrance , genetics , genetic linkage , allele , biology , dystonia , gene , phenotype , neuroscience
Abstract 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.