Inherited myoclonus-dystonia : Evidence supporting genetic heterogeneity
Identifieur interne : 002976 ( PascalFrancis/Checkpoint ); précédent : 002975; suivant : 002977Inherited 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.
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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 Vall54Ile 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.
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Bulman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medicine, Division of Neurology, The Ottawa Hospital</s1><s2>Ottawa</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Ottawa</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Ottawa Hospital Research Institute, University of Ottawa</s1><s2>Ottawa</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Ottawa</wicri:noRegion></affiliation></author><author><name sortKey="George Hyslop, P St" sort="George Hyslop, P St" uniqKey="George Hyslop P" first="P. St." last="George-Hyslop">P. St. George-Hyslop</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medicine, Division of Neurology, The University Health Network, Toronto Western Hospital, MP 11-306</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Centre for Research in Neurodegenerative Disease, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medicine, Division of Neurology, The University Health Network, Toronto Western Hospital, MP 11-306</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">01-0138830</idno><date when="2001">2001</date><idno type="stanalyst">PASCAL 01-0138830 INIST</idno><idno type="RBID">Pascal:01-0138830</idno><idno type="wicri:Area/PascalFrancis/Corpus">002A68</idno><idno type="wicri:Area/PascalFrancis/Curation">000253</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002976</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Department of Medicine, Division of Neurology, The Ottawa Hospital</s1><s2>Ottawa</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Ottawa</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Ottawa Hospital Research Institute, University of Ottawa</s1><s2>Ottawa</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><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"><inist:fA14 i1="01"><s1>Department of Medicine, Division of Neurology, The Ottawa Hospital</s1><s2>Ottawa</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Ottawa</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Ottawa Hospital Research Institute, University of Ottawa</s1><s2>Ottawa</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Ottawa</wicri:noRegion></affiliation></author><author><name sortKey="George Hyslop, P St" sort="George Hyslop, P St" uniqKey="George Hyslop P" first="P. St." last="George-Hyslop">P. St. George-Hyslop</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medicine, Division of Neurology, The University Health Network, Toronto Western Hospital, MP 11-306</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Centre for Research in Neurodegenerative Disease, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medicine, Division of Neurology, The University Health Network, Toronto Western Hospital, MP 11-306</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2001">2001</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term><term>Dominant character</term><term>Dystonia</term><term>Family study</term><term>Human</term><term>Linkage</term><term>Myoclonus</term><term>Pathophysiology</term><term>Polymorphism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Myoclonie</term><term>Caractère autosomique</term><term>Caractère dominant</term><term>Liaison génétique</term><term>Etude familiale</term><term>Physiopathologie</term><term>Homme</term><term>Polymorphisme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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 Vall54Ile 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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>16</s2></fA05><fA06><s2>1</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Inherited myoclonus-dystonia : Evidence supporting genetic heterogeneity</s1></fA08><fA11 i1="01" i2="1"><s1>GRIMES (D. A.)</s1></fA11><fA11 i1="02" i2="1"><s1>BULMAN (D.)</s1></fA11><fA11 i1="03" i2="1"><s1>GEORGE-HYSLOP (P. St.)</s1></fA11><fA11 i1="04" i2="1"><s1>LANG (A. E.)</s1></fA11><fA14 i1="01"><s1>Department of Medicine, Division of Neurology, The Ottawa Hospital</s1><s2>Ottawa</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></fA14><fA14 i1="02"><s1>The Ottawa Hospital Research Institute, University of Ottawa</s1><s2>Ottawa</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Medicine, Division of Neurology, The University Health Network, Toronto Western Hospital, MP 11-306</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></fA14><fA14 i1="04"><s1>Centre for Research in Neurodegenerative Disease, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ></fA14><fA20><s1>106-110</s1></fA20><fA21><s1>2001</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000094178420150</s5></fA43><fA44><s0>0000</s0><s1>© 2001 INIST-CNRS. 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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="George Hyslop, P St" sort="George Hyslop, P St" uniqKey="George Hyslop P" first="P. St." last="George-Hyslop">P. St. George-Hyslop</name><name sortKey="George Hyslop, P St" sort="George Hyslop, P St" uniqKey="George Hyslop P" first="P. St." last="George-Hyslop">P. St. George-Hyslop</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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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