Article
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.
Proceedings of the National Academy of Sciences of the United States of America - 11 Jul 2006
Jeanneteau Freddy, Funalot Benoît, Jankovic Joseph, Deng Hao, Lagarde Jean-Pierre, Lucotte Gérard, Sokoloff Pierre
Abstract excerpt
Familial essential tremor (ET), the most common inherited movement disorder, is generally transmitted as an autosomal dominant trait. A genome-wide scan for ET revealed one major locus on chromosome 3q13. Here, we report that the Ser9Gly variant in the dopamine D(3) receptor gene (DRD3), localized on 3q13.3, is associated and cosegregates with familial ET in 23 out of 30 French families. Sequencing revealed no...
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