Genetics of essential tremor.
Identifieur interne : 000D44 ( Main/Exploration ); précédent : 000D43; suivant : 000D45Genetics of essential tremor.
Auteurs : Hao Deng [États-Unis] ; Weidong Le ; Joseph Jankovic [États-Unis]Source :
- Brain : a journal of neurology ; 2007.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Receptors, Dopamine D3.
- genetics : Dystonia, Essential Tremor, Parkinson Disease.
- Adolescent, Adult, Aged, Animals, Disease Models, Animal, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Risk Factors.
Abstract
Essential tremor (ET), the cause of which remains poorly understood, is one of the most common neurological disorders. While environmental agents have been proposed to play a role, genetic factors are believed to contribute to its onset. Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder. In addition, a Ser9Gly variant in the dopamine D3 receptor gene on 3q13 has been suggested to be a risk factor. Moreover, genetically deficient animal models express a phenotype that overlaps with some clinical characteristics of the human form of the illness. Further analyses of these genetic abnormalities may lead to the identification of causative mutations and a better understanding of the molecular mechanisms in this common movement disorder.
DOI: 10.1093/brain/awm018
PubMed: 17353225
Affiliations:
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Le document en format XML
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While environmental agents have been proposed to play a role, genetic factors are believed to contribute to its onset. Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder. In addition, a Ser9Gly variant in the dopamine D3 receptor gene on 3q13 has been suggested to be a risk factor. Moreover, genetically deficient animal models express a phenotype that overlaps with some clinical characteristics of the human form of the illness. Further analyses of these genetic abnormalities may lead to the identification of causative mutations and a better understanding of the molecular mechanisms in this common movement disorder.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Texas</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><noCountry><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name></noCountry><country name="États-Unis"><region name="Texas"><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name></region><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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