Genetic mouse models of essential tremor: are they essential?
Identifieur interne : 001029 ( Main/Curation ); précédent : 001028; suivant : 001030Genetic mouse models of essential tremor: are they essential?
Auteurs : Joseph Jankovic [États-Unis] ; Jeffrey NoebelsSource :
- Journal of Clinical Investigation [ 0021-9738 ] ; 2005.
Abstract
The 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
Url:
DOI: 10.1172/JCI200524544
PubMed: 15765140
PubMed Central: 1052020
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PMC:1052020Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>The 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 <italic>HS1-BP3</italic>
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 <italic>JCI</italic>
, the gene coding for the γ-aminobutyric acid<sub>A</sub>
(GABA<sub>A</sub>
) 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.</p>
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