Linkage analysis with chromosome 9 markers in hereditary essential tremor
Identifieur interne : 005D74 ( Main/Exploration ); précédent : 005D73; suivant : 005D75Linkage analysis with chromosome 9 markers in hereditary essential tremor
Auteurs : D. Conway [Royaume-Uni] ; P. G. Bain [Royaume-Uni] ; T. T. Warner [Royaume-Uni] ; M. B. Davis [Royaume-Uni] ; L. J. Findley [Royaume-Uni] ; P. D. Thompson [Royaume-Uni] ; C. D. Marsden [Royaume-Uni] ; Harding [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1993.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
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), Dystonia musculorum deformans, Essential tremor, Family, Female, Genetic Testing, Human, Humans, Inheritance, Linkage, Lod Score, Male, Middle Aged, Pedigree, Recombination, Genetic, Torsion dystonia, Tremor, 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.
Url:
DOI: 10.1002/mds.870080324
Affiliations:
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Conway</name><affiliation wicri:level="2"><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><affiliation wicri:level="2"><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="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T. T." last="Warner">T. T. Warner</name><affiliation wicri:level="2"><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="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name><affiliation wicri:level="2"><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="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L. J." last="Findley">L. J. Findley</name><affiliation wicri:level="2"><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="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name><affiliation wicri:level="2"><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="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. 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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="1993">1993</date><biblScope unit="vol">8</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="374">374</biblScope><biblScope unit="page" to="376">376</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">563E98F854A22005C0792272163AC09FF2860C0F</idno><idno type="DOI">10.1002/mds.870080324</idno><idno type="ArticleID">MDS870080324</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>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>Dystonia musculorum deformans</term><term>Essential tremor</term><term>Family</term><term>Female</term><term>Genetic Testing</term><term>Human</term><term>Humans</term><term>Inheritance</term><term>Linkage</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Recombination, Genetic</term><term>Torsion dystonia</term><term>Tremor</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><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie musculaire déformante</term><term>Déterminisme génétique</term><term>Homme</term><term>Linkage</term><term>Tremblement</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">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><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li></region></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Conway, D" sort="Conway, D" uniqKey="Conway D" first="D." last="Conway">D. Conway</name></region><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P. G." last="Bain">P. G. Bain</name><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L. J." last="Findley">L. J. Findley</name><name sortKey="Harding" sort="Harding" uniqKey="Harding" last="Harding">Harding</name><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T. T." last="Warner">T. T. Warner</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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