JankovicV1, PubMed, Corpus, bibRecord, 000167

Genetics of essential tremor.

Identifieur interne : 000167 ( PubMed/Corpus ); précédent : 000166; suivant : 000168

Genetics of essential tremor.

Auteurs : Hao Deng ; Weidong Le ; Joseph Jankovic

Source :

Brain : a journal of neurology ; 2007.

RBID : pubmed:17353225

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Animals, Disease Models, Animal, Dystonia (genetics), Essential Tremor (genetics), Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Parkinson Disease (genetics), Receptors, Dopamine D3 (genetics), Risk Factors.
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

Links to Exploration step

pubmed:17353225

Le document en format XML

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<author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name>
<affiliation><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name>
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<series><title level="j">Brain : a journal of neurology</title>
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<term>Dystonia (genetics)</term>
<term>Essential Tremor (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
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<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Receptors, Dopamine D3 (genetics)</term>
<term>Risk Factors</term>
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<term>Aged</term>
<term>Animals</term>
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<term>Female</term>
<term>Genetic Predisposition to Disease</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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<Issue>Pt 6</Issue>
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<Month>Jun</Month>
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<Title>Brain : a journal of neurology</Title>
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<ArticleTitle>Genetics of essential tremor.</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Deng</LastName>
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<Language>eng</Language>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
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</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012307">Risk Factors</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<NumberOfReferences>107</NumberOfReferences>
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Serveur d'exploration autour de Joseph Jankovic

Genetics of essential tremor.

Genetics of essential tremor.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki