Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
Identifieur interne : 002D24 ( PubMed/Checkpoint ); précédent : 002D23; suivant : 002D25Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
Auteurs : Shaochun Ma [États-Unis] ; Thomas L. Davis ; Marcia A. Blair ; John Y. Fang ; Yuki Bradford ; Jonathan L. Haines ; Peter HederaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
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).
- 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.
DOI: 10.1002/mds.20950
PubMed: 16721753
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?</title><author><name sortKey="Ma, Shaochun" sort="Ma, Shaochun" uniqKey="Ma S" first="Shaochun" last="Ma">Shaochun Ma</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Vanderbilt University, Nashville, Tennessee, USA.</nlm:affiliation><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="Davis, Thomas L" sort="Davis, Thomas L" uniqKey="Davis T" first="Thomas L" last="Davis">Thomas L. Davis</name></author><author><name sortKey="Blair, Marcia A" sort="Blair, Marcia A" uniqKey="Blair M" first="Marcia A" last="Blair">Marcia A. Blair</name></author><author><name sortKey="Fang, John Y" sort="Fang, John Y" uniqKey="Fang J" first="John Y" last="Fang">John Y. Fang</name></author><author><name sortKey="Bradford, Yuki" sort="Bradford, Yuki" uniqKey="Bradford Y" first="Yuki" last="Bradford">Yuki Bradford</name></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L" last="Haines">Jonathan L. Haines</name></author><author><name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20950</idno><idno type="RBID">pubmed:16721753</idno><idno type="pmid">16721753</idno><idno type="wicri:Area/PubMed/Corpus">002C21</idno><idno type="wicri:Area/PubMed/Curation">002C21</idno><idno type="wicri:Area/PubMed/Checkpoint">002D24</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?</title><author><name sortKey="Ma, Shaochun" sort="Ma, Shaochun" uniqKey="Ma S" first="Shaochun" last="Ma">Shaochun Ma</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Vanderbilt University, Nashville, Tennessee, USA.</nlm:affiliation><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="Davis, Thomas L" sort="Davis, Thomas L" uniqKey="Davis T" first="Thomas L" last="Davis">Thomas L. Davis</name></author><author><name sortKey="Blair, Marcia A" sort="Blair, Marcia A" uniqKey="Blair M" first="Marcia A" last="Blair">Marcia A. Blair</name></author><author><name sortKey="Fang, John Y" sort="Fang, John Y" uniqKey="Fang J" first="John Y" last="Fang">John Y. Fang</name></author><author><name sortKey="Bradford, Yuki" sort="Bradford, Yuki" uniqKey="Bradford Y" first="Yuki" last="Bradford">Yuki Bradford</name></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L" last="Haines">Jonathan L. Haines</name></author><author><name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></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></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></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16721753</PMID><DateCreated><Year>2006</Year><Month>09</Month><Day>27</Day></DateCreated><DateCompleted><Year>2007</Year><Month>02</Month><Day>02</Day></DateCompleted><DateRevised><Year>2007</Year><Month>12</Month><Day>03</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>21</Volume><Issue>9</Issue><PubDate><Year>2006</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?</ArticleTitle><Pagination><MedlinePgn>1368-74</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ma</LastName><ForeName>Shaochun</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology, Vanderbilt University, Nashville, Tennessee, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>Thomas L</ForeName><Initials>TL</Initials></Author><Author ValidYN="Y"><LastName>Blair</LastName><ForeName>Marcia A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Fang</LastName><ForeName>John Y</ForeName><Initials>JY</Initials></Author><Author ValidYN="Y"><LastName>Bradford</LastName><ForeName>Yuki</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Haines</LastName><ForeName>Jonathan L</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Hedera</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>K08NS42743</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>RR00095</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C493593">DRD3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C503777">HS1BP3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D050637">Receptors, Dopamine D3</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002869">Chromosome Aberrations</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002874">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020329">Essential Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005799">Genes, Dominant</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006580">Heterozygote Detection</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008126">Lod Score</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050637">Receptors, Dopamine D3</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>5</Month><Day>25</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>2</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>5</Month><Day>25</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20950</ArticleId><ArticleId IdType="pubmed">16721753</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Tennessee</li></region></list><tree><noCountry><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="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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