Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene
Identifieur interne : 003C50 ( Main/Merge ); précédent : 003C49; suivant : 003C51Myoclonus–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.
English descriptors
- KwdEn :
- Adult, Aged, Antiparkinson Agents (therapeutic use), Depressive Disorder, Major (diagnosis), Depressive Disorder, Major (epidemiology), Depressive Disorder, Major (psychology), Drug Administration Schedule, Dystonia (drug therapy), Dystonia (epidemiology), Dystonia (genetics), Exons (genetics), Gene Expression (genetics), Humans, Incidence, Levodopa (therapeutic use), Male, Myoclonus (drug therapy), Myoclonus (epidemiology), Myoclonus (genetics), 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 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>
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<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>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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 epsilon-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>
</front>
</TEI>
</PubMed>
</double>
</record>
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