Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene
Identifieur interne : 002D28 ( Main/Exploration ); 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
Affiliations:
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Le document en format XML
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<term>Depressive Disorder, Major (epidemiology)</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>
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