Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity
Identifieur interne : 004776 ( Main/Exploration ); précédent : 004775; suivant : 004777Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity
Auteurs : D. A. Grimes [Canada] ; D. Bulman [Canada] ; P. St. George-Hyslop [Canada] ; A. E. Lang [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2001-01.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Autosomal character, Child, Child, Preschool, Chromosomes, Human, Pair 11 (genetics), D2 dopamine receptor, Dominant character, Dystonia, Dystonic Disorders (complications), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Family study, Female, Genetic Linkage, Human, Humans, Linkage, Male, Myoclonus, Myoclonus (complications), Myoclonus (diagnosis), Myoclonus (genetics), Pathophysiology, Pedigree, Point Mutation (genetics), Polymerase Chain Reaction, Polymorphism, Receptors, Dopamine D2 (genetics), dystonia, myoclonus, myoclonus‐dystonia.
- 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. Mov. Disord. 16:106–110, 2001. © 2001 Movement Disorder Society.
Url:
DOI: 10.1002/1531-8257(200101)16:1<106::AID-MDS1022>3.0.CO;2-7
Affiliations:
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Le document en format XML
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A." last="Grimes">D. A. Grimes</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>The Ottawa Hospital Research Institute, University of Ottawa, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation></author><author><name sortKey="Bulman, D" sort="Bulman, D" uniqKey="Bulman D" first="D." last="Bulman">D. Bulman</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>The Ottawa Hospital Research Institute, University of Ottawa, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation></author><author><name sortKey="St George Yslop, P" sort="St George Yslop, P" uniqKey="St George Yslop P" first="P." last="St. George-Hyslop">P. St. George-Hyslop</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, The University Health Network, Toronto Western Hospital, MP 11‐306, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. 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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. Mov. Disord. 16:106–110, 2001. © 2001 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Canada</li></country><region><li>Ontario</li></region><settlement><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><noRegion><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D. A." last="Grimes">D. A. Grimes</name></noRegion><name sortKey="Bulman, D" sort="Bulman, D" uniqKey="Bulman D" first="D." last="Bulman">D. Bulman</name><name sortKey="Bulman, D" sort="Bulman, D" uniqKey="Bulman D" first="D." last="Bulman">D. Bulman</name><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D. A." last="Grimes">D. A. Grimes</name><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><name sortKey="St George Yslop, P" sort="St George Yslop, P" uniqKey="St George Yslop P" first="P." last="St. George-Hyslop">P. St. George-Hyslop</name><name sortKey="St George Yslop, P" sort="St George Yslop, P" uniqKey="St George Yslop P" first="P." last="St. George-Hyslop">P. St. George-Hyslop</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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