A gene (ETM) for essential tremor maps to chromosome 2p22-p25

被引：165
作者：
Higgins, JJ
Pho, LT
Nee, LE
机构：
[1] Clinical Neurogenetics Unit, Medical Neurology Branch, National Institutes of Health, Bethesda, MD
[2] Clinical Neurogenetics Unit, Medical Neurology Branch, National Institutes of Health, Bethesda
来源：
MOVEMENT DISORDERS | 1997年 / 12卷 / 06期
关键词：
linkage analysis; essential tremor; human chromosome 2p;
D O I：
10.1002/mds.870120605
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report the results of linkage analysis in a large American family of Czech descent with dominantly inherited ''pure'' essential tremor (ET) and genetic anticipation. Genetic loci on chromosome 2p22-p25 establish linkage to this region with a maximum LOD score (Z(max)) = 5.92 for the locus, D2S272. Obligate recombinant events place the ETM gene in a 15-cM candidate interval between the genetic loci D2S168 and D2S224. Repeat expansion detection analysis suggests that expanded CAG trinucleotide sequences are associated with ET. These findings will facilitate the search for an ETM gene and may further our understanding of the human motor system.
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页码：859 / 864
页数：6
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