Linkage analysis with chromosome 9 markers in hereditary essential tremor.
Identifieur interne : 004C04 ( PubMed/Curation ); précédent : 004C03; suivant : 004C05Linkage analysis with chromosome 9 markers in hereditary essential tremor.
Auteurs : D. Conway [Royaume-Uni] ; P G Bain ; T T Warner ; M B Davis ; L J Findley ; P D Thompson ; C D Marsden ; A E HardingSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1993.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Alleles, Argininosuccinate Synthase (analysis), Child, Child, Preschool, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 9, DNA (blood), Dystonia Musculorum Deformans (genetics), Family, Female, Genetic Testing, Humans, Lod Score, Male, Middle Aged, Pedigree, Recombination, Genetic, Tremor (diagnosis), Tremor (genetics), Videotape Recording.
- MESH :
- chemical , analysis : Argininosuccinate Synthase.
- chemical , blood : DNA.
- diagnosis : Tremor.
- genetics : Dystonia Musculorum Deformans, Tremor.
- Adolescent, Adult, Aged, Alleles, Child, Child, Preschool, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 9, Family, Female, Genetic Testing, Humans, Lod Score, Male, Middle Aged, Pedigree, Recombination, Genetic, Videotape Recording.
Abstract
Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32-34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were -19.5 for ASS and -10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.
DOI: 10.1002/mds.870080324
PubMed: 8341306
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Conway</name><affiliation wicri:level="2"><nlm:affiliation>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea></affiliation></author><author><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P G" last="Bain">P G Bain</name></author><author><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T T" last="Warner">T T Warner</name></author><author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M B" last="Davis">M B Davis</name></author><author><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L J" last="Findley">L J Findley</name></author><author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P D" last="Thompson">P D Thompson</name></author><author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name></author><author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A E" last="Harding">A E Harding</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1993">1993</date><idno type="RBID">pubmed:8341306</idno><idno type="pmid">8341306</idno><idno type="doi">10.1002/mds.870080324</idno><idno type="wicri:Area/PubMed/Corpus">004C04</idno><idno type="wicri:Area/PubMed/Curation">004C04</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Linkage analysis with chromosome 9 markers in hereditary essential tremor.</title><author><name sortKey="Conway, D" sort="Conway, D" uniqKey="Conway D" first="D" last="Conway">D. Conway</name><affiliation wicri:level="2"><nlm:affiliation>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea></affiliation></author><author><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P G" last="Bain">P G Bain</name></author><author><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T T" last="Warner">T T Warner</name></author><author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M B" last="Davis">M B Davis</name></author><author><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L J" last="Findley">L J Findley</name></author><author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P D" last="Thompson">P D Thompson</name></author><author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name></author><author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A E" last="Harding">A E Harding</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="1993" type="published">1993</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Alleles</term><term>Argininosuccinate Synthase (analysis)</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Chromosome Disorders</term><term>Chromosomes, Human, Pair 9</term><term>DNA (blood)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Family</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Recombination, Genetic</term><term>Tremor (diagnosis)</term><term>Tremor (genetics)</term><term>Videotape Recording</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Argininosuccinate Synthase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Alleles</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Chromosome Disorders</term><term>Chromosomes, Human, Pair 9</term><term>Family</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Recombination, Genetic</term><term>Videotape Recording</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32-34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were -19.5 for ASS and -10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">8341306</PMID><DateCreated><Year>1993</Year><Month>09</Month><Day>02</Day></DateCreated><DateCompleted><Year>1993</Year><Month>09</Month><Day>02</Day></DateCompleted><DateRevised><Year>2009</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>8</Volume><Issue>3</Issue><PubDate><Year>1993</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Linkage analysis with chromosome 9 markers in hereditary essential tremor.</ArticleTitle><Pagination><MedlinePgn>374-6</MedlinePgn></Pagination><Abstract><AbstractText>Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32-34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were -19.5 for ASS and -10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Conway</LastName><ForeName>D</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London, England.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bain</LastName><ForeName>P G</ForeName><Initials>PG</Initials></Author><Author ValidYN="Y"><LastName>Warner</LastName><ForeName>T T</ForeName><Initials>TT</Initials></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>M B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Findley</LastName><ForeName>L J</ForeName><Initials>LJ</Initials></Author><Author ValidYN="Y"><LastName>Thompson</LastName><ForeName>P D</ForeName><Initials>PD</Initials></Author><Author ValidYN="Y"><LastName>Marsden</LastName><ForeName>C D</ForeName><Initials>CD</Initials></Author><Author ValidYN="Y"><LastName>Harding</LastName><ForeName>A E</ForeName><Initials>AE</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>UNITED STATES</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>9007-49-2</RegistryNumber><NameOfSubstance UI="D004247">DNA</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.4.5</RegistryNumber><NameOfSubstance UI="D001124">Argininosuccinate Synthase</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="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001124">Argininosuccinate Synthase</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000032">analysis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002869">Chromosome Aberrations</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D025063">Chromosome Disorders</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002899">Chromosomes, Human, Pair 9</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004247">DNA</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000097">blood</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004422">Dystonia Musculorum Deformans</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005190">Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" 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="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011995">Recombination, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014202">Tremor</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014743">Videotape Recording</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1993</Year><Month>7</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1993</Year><Month>7</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate 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