MovDisordV3, PubMed, Curation, bibRecord, 000542

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.

Identifieur interne : 000542 ( PubMed/Curation ); précédent : 000541; suivant : 000543

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.

Auteurs : Valerija Dobri I [Allemagne] ; Nikola Kresojevi ; Ana Westenberger ; Marina Svetel ; Aleksandra Tomi ; Vesna Rali ; Igor Petrovi ; Milica Je Menica Luki ; Katja Lohmann ; Ivana Novakovi ; Christine Klein ; Vladimir S. Kosti

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24729450

Descripteurs français

Wicri :
- geographic : Serbie.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Child, Child, Preschool, Dystonic Disorders (genetics), Female, GTP-Binding Protein alpha Subunits (genetics), Genetic Predisposition to Disease (genetics), Genetic Testing, Humans, Infant, Male, Middle Aged, Mutation (genetics), Serbia, Young Adult.
MESH :
- chemical , genetics : GTP-Binding Protein alpha Subunits.
- geographic : Serbia.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease, Mutation.
- Adolescent, Adult, Aged, Child, Child, Preschool, Female, Genetic Testing, Humans, Infant, Male, Middle Aged, Young Adult.

Abstract

Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established.

DOI: 10.1002/mds.25876
PubMed: 24729450

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000542

Links to Exploration step

pubmed:24729450

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.</title>
<author><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri I">Valerija Dobri I</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurology Clinic CCS, School of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurology Clinic CCS, School of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kresojevi, Nikola" sort="Kresojevi, Nikola" uniqKey="Kresojevi N" first="Nikola" last="Kresojevi">Nikola Kresojevi</name>
</author>
<author><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name>
</author>
<author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
</author>
<author><name sortKey="Tomi, Aleksandra" sort="Tomi, Aleksandra" uniqKey="Tomi A" first="Aleksandra" last="Tomi">Aleksandra Tomi</name>
</author>
<author><name sortKey="Rali, Vesna" sort="Rali, Vesna" uniqKey="Rali V" first="Vesna" last="Rali">Vesna Rali</name>
</author>
<author><name sortKey="Petrovi, Igor" sort="Petrovi, Igor" uniqKey="Petrovi I" first="Igor" last="Petrovi">Igor Petrovi</name>
</author>
<author><name sortKey="Luki, Milica Je Menica" sort="Luki, Milica Je Menica" uniqKey="Luki M" first="Milica Je Menica" last="Luki">Milica Je Menica Luki</name>
</author>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
</author>
<author><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
<author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S" last="Kosti">Vladimir S. Kosti</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2014">2014</date>
<idno type="RBID">pubmed:24729450</idno>
<idno type="pmid">24729450</idno>
<idno type="doi">10.1002/mds.25876</idno>
<idno type="wicri:Area/PubMed/Corpus">000542</idno>
<idno type="wicri:Area/PubMed/Curation">000542</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.</title>
<author><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri I">Valerija Dobri I</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurology Clinic CCS, School of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurology Clinic CCS, School of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kresojevi, Nikola" sort="Kresojevi, Nikola" uniqKey="Kresojevi N" first="Nikola" last="Kresojevi">Nikola Kresojevi</name>
</author>
<author><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name>
</author>
<author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
</author>
<author><name sortKey="Tomi, Aleksandra" sort="Tomi, Aleksandra" uniqKey="Tomi A" first="Aleksandra" last="Tomi">Aleksandra Tomi</name>
</author>
<author><name sortKey="Rali, Vesna" sort="Rali, Vesna" uniqKey="Rali V" first="Vesna" last="Rali">Vesna Rali</name>
</author>
<author><name sortKey="Petrovi, Igor" sort="Petrovi, Igor" uniqKey="Petrovi I" first="Igor" last="Petrovi">Igor Petrovi</name>
</author>
<author><name sortKey="Luki, Milica Je Menica" sort="Luki, Milica Je Menica" uniqKey="Luki M" first="Milica Je Menica" last="Luki">Milica Je Menica Luki</name>
</author>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
</author>
<author><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
<author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S" last="Kosti">Vladimir S. Kosti</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014" type="published">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Dystonic Disorders (genetics)</term>
<term>Female</term>
<term>GTP-Binding Protein alpha Subunits (genetics)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Serbia</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GTP-Binding Protein alpha Subunits</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Serbia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Serbie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24729450</PMID>
<DateCreated><Year>2014</Year>
<Month>08</Month>
<Day>20</Day>
</DateCreated>
<DateCompleted><Year>2015</Year>
<Month>04</Month>
<Day>20</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>9</Issue>
<PubDate><Year>2014</Year>
<Month>Aug</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.</ArticleTitle>
<Pagination><MedlinePgn>1190-3</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25876</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">The authors used Sanger sequencing to test for changes in the GNAL coding or splice-site regions in 236 Serbian patients suffering from isolated dystonia with craniocervical involvement.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">One novel likely pathogenic substitution (c.1061T>C; p.Val354Ala) in GNAL was detected in a sporadic cervical dystonia patient (mutation frequency: 0.4%). This mutation was not present in the DNA of either parent, despite confirmed parentage.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This is the first report of a de novo GNAL mutation causing genetically proven, seemingly sporadic DYT25 dystonia. Our finding highlights the importance of genetic testing for GNAL mutations in establishing the molecular diagnosis even for patients with a negative family history.</AbstractText>
<CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dobričić</LastName>
<ForeName>Valerija</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Neurology Clinic CCS, School of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kresojević</LastName>
<ForeName>Nikola</ForeName>
<Initials>N</Initials>
</Author>
<Author ValidYN="Y"><LastName>Westenberger</LastName>
<ForeName>Ana</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Svetel</LastName>
<ForeName>Marina</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Tomić</LastName>
<ForeName>Aleksandra</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ralić</LastName>
<ForeName>Vesna</ForeName>
<Initials>V</Initials>
</Author>
<Author ValidYN="Y"><LastName>Petrović</LastName>
<ForeName>Igor</ForeName>
<Initials>I</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lukić</LastName>
<ForeName>Milica Ječmenica</ForeName>
<Initials>MJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lohmann</LastName>
<ForeName>Katja</ForeName>
<Initials>K</Initials>
</Author>
<Author ValidYN="Y"><LastName>Novaković</LastName>
<ForeName>Ivana</ForeName>
<Initials>I</Initials>
</Author>
<Author ValidYN="Y"><LastName>Klein</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kostić</LastName>
<ForeName>Vladimir S</ForeName>
<Initials>VS</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2014</Year>
<Month>04</Month>
<Day>13</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D044385">GTP-Binding Protein alpha Subunits</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C084618">olfactory G protein subunit alpha olf</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D044385">GTP-Binding Protein alpha Subunits</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007223">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D055771">Serbia</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">DYT25</Keyword>
<Keyword MajorTopicYN="N">GNAL</Keyword>
<Keyword MajorTopicYN="N">de novo mutation</Keyword>
<Keyword MajorTopicYN="N">isolated dystonia</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year>
<Month>10</Month>
<Day>29</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2014</Year>
<Month>1</Month>
<Day>13</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2014</Year>
<Month>1</Month>
<Day>27</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year>
<Month>4</Month>
<Day>13</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2014</Year>
<Month>4</Month>
<Day>15</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2014</Year>
<Month>4</Month>
<Day>15</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2015</Year>
<Month>4</Month>
<Day>22</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">24729450</ArticleId>
<ArticleId IdType="doi">10.1002/mds.25876</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000542 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 000542 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Curation
   |type=    RBID
   |clé=     pubmed:24729450
   |texte=   De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i   -Sk "pubmed:24729450" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki