Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
Identifieur interne : 001A37 ( Ncbi/Curation ); précédent : 001A36; suivant : 001A38Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
Auteurs : Anjum Misbahuddin [Royaume-Uni] ; Mark Placzek ; Graham Lennox ; Jan-Willem Taanman ; Thomas T. WarnerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
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).
- 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 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.
DOI: 10.1002/mds.21297
PubMed: 17230465
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Warner</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><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></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></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></record>Pour manipuler ce document sous Unix (Dilib)
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