Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene
Identifieur interne : 002D28 ( Main/Curation ); précédent : 002D27; suivant : 002D29Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene
Auteurs : Anjum Misbahuddin [Royaume-Uni] ; Mark Placzek [Royaume-Uni] ; Graham Lennox [Royaume-Uni] ; Jan-Willem Taanman [Royaume-Uni] ; Thomas T. Warner [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-06-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Antiparkinson Agents (therapeutic use), Depression, Depressive Disorder, Major (diagnosis), Depressive Disorder, Major (epidemiology), Depressive Disorder, Major (psychology), Drug Administration Schedule, Dystonia, Dystonia (drug therapy), Dystonia (epidemiology), Dystonia (genetics), Exon, Exons (genetics), Gene Expression (genetics), Humans, Incidence, Levodopa (therapeutic use), Male, Mutation, Myoclonus, Myoclonus (drug therapy), Myoclonus (epidemiology), Myoclonus (genetics), Nervous system diseases, Point Mutation (genetics), Sarcoglycans (genetics), depression, exon skipping, myoclonus–dystonia syndrome, ε‐sarcoglycan mutation.
- MESH :
- chemical , genetics : Sarcoglycans.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Depressive Disorder, Major.
- drug therapy : Dystonia, Myoclonus.
- epidemiology : Depressive Disorder, Major, Dystonia, Myoclonus.
- genetics : Dystonia, Exons, Gene Expression, Myoclonus, Point Mutation.
- psychology : Depressive Disorder, Major.
- Adult, Aged, Drug Administration Schedule, Humans, Incidence, Male.
Abstract
We describe two affected individuals in a family with myoclonus–dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the ε‐sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21297
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<front><div type="abstract" xml:lang="en">We describe two affected individuals in a family with myoclonus-dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the e-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression.</div>
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<author><name sortKey="Misbahuddin, Anjum" sort="Misbahuddin, Anjum" uniqKey="Misbahuddin A" first="Anjum" last="Misbahuddin">Anjum Misbahuddin</name>
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<author><name sortKey="Placzek, Mark" sort="Placzek, Mark" uniqKey="Placzek M" first="Mark" last="Placzek">Mark Placzek</name>
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<author><name sortKey="Lennox, Graham" sort="Lennox, Graham" uniqKey="Lennox G" first="Graham" last="Lennox">Graham Lennox</name>
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<author><name sortKey="Taanman, Jan Illem" sort="Taanman, Jan Illem" uniqKey="Taanman J" first="Jan-Willem" last="Taanman">Jan-Willem Taanman</name>
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<author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T." last="Warner">Thomas T. Warner</name>
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<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21297</idno>
<idno type="url">https://api.istex.fr/document/600ED1CA6B7407031CCE5F4564E55C3450129B54/fulltext/pdf</idno>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene</title>
<author><name sortKey="Misbahuddin, Anjum" sort="Misbahuddin, Anjum" uniqKey="Misbahuddin A" first="Anjum" last="Misbahuddin">Anjum Misbahuddin</name>
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<wicri:regionArea>Department of Clinical Neurosciences, Royal Free and University College Medical School, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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<author><name sortKey="Placzek, Mark" sort="Placzek, Mark" uniqKey="Placzek M" first="Mark" last="Placzek">Mark Placzek</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurosciences, Royal Free and University College Medical School, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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<author><name sortKey="Lennox, Graham" sort="Lennox, Graham" uniqKey="Lennox G" first="Graham" last="Lennox">Graham Lennox</name>
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<wicri:regionArea>Department of Neurology, Addenbrookes Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
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<author><name sortKey="Taanman, Jan Illem" sort="Taanman, Jan Illem" uniqKey="Taanman J" first="Jan-Willem" last="Taanman">Jan-Willem Taanman</name>
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<wicri:regionArea>Department of Clinical Neurosciences, Royal Free and University College Medical School, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
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<author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T." last="Warner">Thomas T. Warner</name>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. 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="2007-06-15">2007-06-15</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Antiparkinson Agents (therapeutic use)</term>
<term>Depressive Disorder, Major (diagnosis)</term>
<term>Depressive Disorder, Major (epidemiology)</term>
<term>Depressive Disorder, Major (psychology)</term>
<term>Drug Administration Schedule</term>
<term>Dystonia (drug therapy)</term>
<term>Dystonia (epidemiology)</term>
<term>Dystonia (genetics)</term>
<term>Exons (genetics)</term>
<term>Gene Expression (genetics)</term>
<term>Humans</term>
<term>Incidence</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Myoclonus (drug therapy)</term>
<term>Myoclonus (epidemiology)</term>
<term>Myoclonus (genetics)</term>
<term>Point Mutation (genetics)</term>
<term>Sarcoglycans (genetics)</term>
<term>depression</term>
<term>exon skipping</term>
<term>myoclonus–dystonia syndrome</term>
<term>ε‐sarcoglycan mutation</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sarcoglycans</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Depressive Disorder, Major</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Depressive Disorder, Major</term>
<term>Dystonia</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Exons</term>
<term>Gene Expression</term>
<term>Myoclonus</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Depressive Disorder, Major</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Drug Administration Schedule</term>
<term>Humans</term>
<term>Incidence</term>
<term>Male</term>
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<front><div type="abstract" xml:lang="en">We describe two affected individuals in a family with myoclonus–dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the ε‐sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression. © 2006 Movement Disorder Society</div>
</front>
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