Familial essential tremor with apparent autosomal dominant inheritance: Should we also consider other inheritance modes?
Identifieur interne : 003433 ( Main/Exploration ); précédent : 003432; suivant : 003434Familial essential tremor with apparent autosomal dominant inheritance: Should we also consider other inheritance modes?
Auteurs : Shaochun Ma [États-Unis] ; Thomas L. Davis [États-Unis] ; Marcia A. Blair [États-Unis] ; John Y. Fang [États-Unis] ; Yuki Bradford [États-Unis] ; Jonathan L. Haines [États-Unis] ; Peter Hedera [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
English descriptors
- KwdEn :
- Adolescent, Adult, Alleles, Child, Chromosome Aberrations, Chromosome Mapping, Essential Tremor (genetics), Female, Gene Frequency (genetics), Genes, Dominant, Genetic Predisposition to Disease (genetics), Genotype, Heterozygote Detection, Humans, Lod Score, Male, Middle Aged, Nerve Tissue Proteins (genetics), Pedigree, Phenotype, Polymorphism, Genetic (genetics), Receptors, Dopamine D3 (genetics), complex inheritance, essential tremor, genetics, linkage analysis.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Receptors, Dopamine D3.
- genetics : Essential Tremor, Gene Frequency, Genetic Predisposition to Disease, Polymorphism, Genetic.
- Adolescent, Adult, Alleles, Child, Chromosome Aberrations, Chromosome Mapping, Female, Genes, Dominant, Genotype, Heterozygote Detection, Humans, Lod Score, Male, Middle Aged, Pedigree, Phenotype.
Abstract
A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1‐BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non‐Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.20950
Affiliations:
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Davis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Blair, Marcia A" sort="Blair, Marcia A" uniqKey="Blair M" first="Marcia A." last="Blair">Marcia A. Blair</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Fang, John Y" sort="Fang, John Y" uniqKey="Fang J" first="John Y." last="Fang">John Y. Fang</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Bradford, Yuki" sort="Bradford, Yuki" uniqKey="Bradford Y" first="Yuki" last="Bradford">Yuki Bradford</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1368">1368</biblScope><biblScope unit="page" to="1374">1374</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B781F856FF60411C5926707C8AF98E45242DF983</idno><idno type="DOI">10.1002/mds.20950</idno><idno type="ArticleID">MDS20950</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Child</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Essential Tremor (genetics)</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Genes, Dominant</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Heterozygote Detection</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Polymorphism, Genetic (genetics)</term><term>Receptors, Dopamine D3 (genetics)</term><term>complex inheritance</term><term>essential tremor</term><term>genetics</term><term>linkage analysis</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Receptors, Dopamine D3</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Child</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Female</term><term>Genes, Dominant</term><term>Genotype</term><term>Heterozygote Detection</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1‐BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non‐Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Tennessee</li></region></list><tree><country name="États-Unis"><region name="Tennessee"><name sortKey="Ma, Shaochun" sort="Ma, Shaochun" uniqKey="Ma S" first="Shaochun" last="Ma">Shaochun Ma</name></region><name sortKey="Blair, Marcia A" sort="Blair, Marcia A" uniqKey="Blair M" first="Marcia A." last="Blair">Marcia A. Blair</name><name sortKey="Bradford, Yuki" sort="Bradford, Yuki" uniqKey="Bradford Y" first="Yuki" last="Bradford">Yuki Bradford</name><name sortKey="Davis, Thomas L" sort="Davis, Thomas L" uniqKey="Davis T" first="Thomas L." last="Davis">Thomas L. Davis</name><name sortKey="Fang, John Y" sort="Fang, John Y" uniqKey="Fang J" first="John Y." last="Fang">John Y. Fang</name><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name><name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name><name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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