Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
Identifieur interne : 002700 ( PubMed/Checkpoint ); précédent : 002699; suivant : 002701Myoclonus-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
Affiliations:
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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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17230465</PMID><DateCreated><Year>2007</Year><Month>07</Month><Day>30</Day></DateCreated><DateCompleted><Year>2007</Year><Month>09</Month><Day>07</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>8</Issue><PubDate><Year>2007</Year><Month>Jun</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.</ArticleTitle><Pagination><MedlinePgn>1173-5</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Misbahuddin</LastName><ForeName>Anjum</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Placzek</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Lennox</LastName><ForeName>Graham</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Taanman</LastName><ForeName>Jan-Willem</ForeName><Initials>JW</Initials></Author><Author ValidYN="Y"><LastName>Warner</LastName><ForeName>Thomas T</ForeName><Initials>TT</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal 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MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015870">Gene Expression</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015994">Incidence</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007980">Levodopa</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009207">Myoclonus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D049031">Sarcoglycans</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>1</Month><Day>19</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>9</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>1</Month><Day>19</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21297</ArticleId><ArticleId IdType="pubmed">17230465</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Lennox, Graham" sort="Lennox, Graham" uniqKey="Lennox G" first="Graham" last="Lennox">Graham Lennox</name><name sortKey="Placzek, Mark" sort="Placzek, Mark" uniqKey="Placzek M" first="Mark" last="Placzek">Mark Placzek</name><name sortKey="Taanman, Jan Willem" sort="Taanman, Jan Willem" uniqKey="Taanman J" first="Jan-Willem" last="Taanman">Jan-Willem Taanman</name><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T" last="Warner">Thomas T. Warner</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Misbahuddin, Anjum" sort="Misbahuddin, Anjum" uniqKey="Misbahuddin A" first="Anjum" last="Misbahuddin">Anjum Misbahuddin</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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