Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
Identifieur interne : 006A25 ( Main/Merge ); précédent : 006A24; suivant : 006A26Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
Auteurs : D A Grimes [Canada] ; D. Bulman ; P S George-Hyslop ; A E LangSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.
English descriptors
- KwdEn :
- Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 11 (genetics), Dystonic Disorders (complications), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Female, Genetic Linkage, Humans, Male, Myoclonus (complications), Myoclonus (diagnosis), Myoclonus (genetics), Pedigree, Point Mutation (genetics), Polymerase Chain Reaction, Receptors, Dopamine D2 (genetics).
- MESH :
- chemical , genetics : Receptors, Dopamine D2.
- complications : Dystonic Disorders, Myoclonus.
- diagnosis : Dystonic Disorders, Myoclonus.
- genetics : Chromosomes, Human, Pair 11, Dystonic Disorders, Myoclonus, Point Mutation.
- Adolescent, Child, Child, Preschool, Female, Genetic Linkage, Humans, Male, Pedigree, Polymerase Chain Reaction.
Abstract
Inherited myoclonus-dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individuals. Using linkage analysis and direct sequencing, the D2 receptor gene was excluded as a cause of myoclonus in this family. These results indicate that the Val154Ile D2 receptor substitution is not the universal cause of IMD. This suggests either that it is a rare, family specific polymorphism not causative of IMD, or that IMD is genetically heterogeneous.
PubMed: 11215567
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pubmed:11215567Le document en format XML
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Bulman</name></author><author><name sortKey="George Hyslop, P S" sort="George Hyslop, P S" uniqKey="George Hyslop P" first="P S" last="George-Hyslop">P S George-Hyslop</name></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A E" last="Lang">A E Lang</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:11215567</idno><idno type="pmid">11215567</idno><idno type="wicri:Area/PubMed/Corpus">003E28</idno><idno type="wicri:Area/PubMed/Curation">003E28</idno><idno type="wicri:Area/PubMed/Checkpoint">003D23</idno><idno type="wicri:Area/Ncbi/Merge">000423</idno><idno type="wicri:Area/Ncbi/Curation">000423</idno><idno type="wicri:Area/Ncbi/Checkpoint">000423</idno><idno type="wicri:doubleKey">0885-3185:2001:Grimes D:inherited:myoclonus:dystonia</idno><idno type="wicri:Area/Main/Merge">006A25</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.</title><author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, The Ottawa Hospital, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, The Ottawa Hospital</wicri:regionArea><wicri:noRegion>The Ottawa Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Bulman, D" sort="Bulman, D" uniqKey="Bulman D" first="D" last="Bulman">D. Bulman</name></author><author><name sortKey="George Hyslop, P S" sort="George Hyslop, P S" uniqKey="George Hyslop P" first="P S" last="George-Hyslop">P S George-Hyslop</name></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A E" last="Lang">A E Lang</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="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 11 (genetics)</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Genetic Linkage</term><term>Humans</term><term>Male</term><term>Myoclonus (complications)</term><term>Myoclonus (diagnosis)</term><term>Myoclonus (genetics)</term><term>Pedigree</term><term>Point Mutation (genetics)</term><term>Polymerase Chain Reaction</term><term>Receptors, Dopamine D2 (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Dopamine D2</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 11</term><term>Dystonic Disorders</term><term>Myoclonus</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Genetic Linkage</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Polymerase Chain Reaction</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Inherited myoclonus-dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individuals. Using linkage analysis and direct sequencing, the D2 receptor gene was excluded as a cause of myoclonus in this family. These results indicate that the Val154Ile D2 receptor substitution is not the universal cause of IMD. This suggests either that it is a rare, family specific polymorphism not causative of IMD, or that IMD is genetically heterogeneous.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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