Joseph Jankovic, Jeffrey L. Noebels
J Clin Invest.
2005;
115(3):584–586
doi:10.1172/JCI24544
This article Copyright © 2005, The American Society for Clinical Investigation
Abstract
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T
he causative genes for essential tremor (ET), one of the most common genetic neurological disorders, have eluded scientists despite intensive search. Two gene loci linked to ET, one on chromosome 3q13 and another on chromosome 2p24.1, have been identified, and a missense mutation in the HS1-BP3 gene on the 2p has been suggested as the cause of the disorder in about 10% of American ET patients. Therefore, the genetic basis for the vast majority of familial ET is still unknown. In this issue of the JCI, the gene coding for the γ-aminobutyric acidA (GABAA) receptor α1 subunit is suggested as a potential candidate gene for ET, as mice lacking the gene express a phenotype that overlaps with some clinical characteristics of the human condition.
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