Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm
Identifieur interne : 003014 ( Main/Exploration ); précédent : 003013; suivant : 003015Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm
Auteurs : Jordi Clarimon [États-Unis] ; Francesco Brancati [Italie] ; Elizabeth Peckham [États-Unis] ; Enza Maria Valente [Italie] ; Bruno Dallapiccola [Italie] ; Giovanni Abruzzese [Italie] ; Paolo Girlanda [Italie] ; Giovanni Defazio [Italie] ; Alfredo Berardelli [Italie] ; Mark Hallett [États-Unis] ; Andrew B. Singleton [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Blepharospasm, Blepharospasm (diagnosis), Blepharospasm (genetics), Blepharospasm (physiopathology), Case-Control Studies, DNA Primers (genetics), DRD5, DYT1, Female, Gene Frequency, Genotype, Humans, Linkage Disequilibrium (genetics), Male, Microsatellite Repeats (genetics), Middle Aged, Molecular Chaperones (genetics), Molecular Chaperones (physiology), Nervous system diseases, Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Receptors, Dopamine D5 (genetics), Receptors, Dopamine D5 (physiology), Severity of Illness Index, association, blepharospasm, case–control, genetics.
- MESH :
- chemical , genetics : DNA Primers, Molecular Chaperones, Receptors, Dopamine D5.
- diagnosis : Blepharospasm.
- genetics : Blepharospasm, Linkage Disequilibrium, Microsatellite Repeats, Polymorphism, Genetic.
- chemical , physiology : Molecular Chaperones, Receptors, Dopamine D5.
- physiopathology : Blepharospasm.
- Case-Control Studies, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Polymerase Chain Reaction, Severity of Illness Index.
Abstract
Primary blepharospasm is a common adult‐onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in DYT1 as previously described in an Icelandic population. We have also found global significant DYT1 haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21182
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002F23
- to stream Istex, to step Curation: 002F23
- to stream Istex, to step Checkpoint: 001B22
- to stream PubMed, to step Corpus: 002972
- to stream PubMed, to step Curation: 002972
- to stream PubMed, to step Checkpoint: 002971
- to stream Ncbi, to step Merge: 001967
- to stream Ncbi, to step Curation: 001967
- to stream Ncbi, to step Checkpoint: 001967
- to stream Main, to step Merge: 003F36
- to stream PascalFrancis, to step Corpus: 001815
- to stream PascalFrancis, to step Curation: 001506
- to stream PascalFrancis, to step Checkpoint: 001790
- to stream Main, to step Merge: 004380
- to stream Main, to step Curation: 003014
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm</title><author><name sortKey="Clarimon, Jordi" sort="Clarimon, Jordi" uniqKey="Clarimon J" first="Jordi" last="Clarimon">Jordi Clarimon</name></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></author><author><name sortKey="Peckham, Elizabeth" sort="Peckham, Elizabeth" uniqKey="Peckham E" first="Elizabeth" last="Peckham">Elizabeth Peckham</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name></author><author><name sortKey="Abruzzese, Giovanni" sort="Abruzzese, Giovanni" uniqKey="Abruzzese G" first="Giovanni" last="Abruzzese">Giovanni Abruzzese</name></author><author><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name></author><author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:854124FBEA150B1B028D48C4CDB0FBCF3617E7D3</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21182</idno><idno type="url">https://api.istex.fr/document/854124FBEA150B1B028D48C4CDB0FBCF3617E7D3/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F23</idno><idno type="wicri:Area/Istex/Curation">002F23</idno><idno type="wicri:Area/Istex/Checkpoint">001B22</idno><idno type="wicri:doubleKey">0885-3185:2007:Clarimon J:assessing:the:role</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:17133500</idno><idno type="wicri:Area/PubMed/Corpus">002972</idno><idno type="wicri:Area/PubMed/Curation">002972</idno><idno type="wicri:Area/PubMed/Checkpoint">002971</idno><idno type="wicri:Area/Ncbi/Merge">001967</idno><idno type="wicri:Area/Ncbi/Curation">001967</idno><idno type="wicri:Area/Ncbi/Checkpoint">001967</idno><idno type="wicri:doubleKey">0885-3185:2007:Clarimon J:assessing:the:role</idno><idno type="wicri:Area/Main/Merge">003F36</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:07-0133237</idno><idno type="wicri:Area/PascalFrancis/Corpus">001815</idno><idno type="wicri:Area/PascalFrancis/Curation">001506</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001790</idno><idno type="wicri:doubleKey">0885-3185:2007:Clarimon J:assessing:the:role</idno><idno type="wicri:Area/Main/Merge">004380</idno><idno type="wicri:Area/Main/Curation">003014</idno><idno type="wicri:Area/Main/Exploration">003014</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm</title><author><name sortKey="Clarimon, Jordi" sort="Clarimon, Jordi" uniqKey="Clarimon J" first="Jordi" last="Clarimon">Jordi Clarimon</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS CSS, Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical Sciences, G. d′Annunzio University, Chieti</wicri:regionArea><wicri:noRegion>Chieti</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental Medicine and Pathology, La Sapienza University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Peckham, Elizabeth" sort="Peckham, Elizabeth" uniqKey="Peckham E" first="Elizabeth" last="Peckham">Elizabeth Peckham</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Medical Neurologic Branch, NINDS‐NIH, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS CSS, Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS CSS, Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental Medicine and Pathology, La Sapienza University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Abruzzese, Giovanni" sort="Abruzzese, Giovanni" uniqKey="Abruzzese G" first="Giovanni" last="Abruzzese">Giovanni Abruzzese</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina, Messina</wicri:regionArea><wicri:noRegion>Messina</wicri:noRegion></affiliation></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurologic and Psychiatric Sciences, University of Bari, Bari</wicri:regionArea><wicri:noRegion>Bari</wicri:noRegion></affiliation></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences (Rome) and Institute NEUROMED IRCCS (Pozzilli IS), University of Rome “La Sapienza,” Rome</wicri:regionArea><wicri:noRegion>” Rome</wicri:noRegion></affiliation></author><author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01-15">2007-01-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="162">162</biblScope><biblScope unit="page" to="166">166</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">854124FBEA150B1B028D48C4CDB0FBCF3617E7D3</idno><idno type="DOI">10.1002/mds.21182</idno><idno type="ArticleID">MDS21182</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Blepharospasm</term><term>Blepharospasm (diagnosis)</term><term>Blepharospasm (genetics)</term><term>Blepharospasm (physiopathology)</term><term>Case-Control Studies</term><term>DNA Primers (genetics)</term><term>DRD5</term><term>DYT1</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Linkage Disequilibrium (genetics)</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Molecular Chaperones (physiology)</term><term>Nervous system diseases</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Genetic (genetics)</term><term>Receptors, Dopamine D5 (genetics)</term><term>Receptors, Dopamine D5 (physiology)</term><term>Severity of Illness Index</term><term>association</term><term>blepharospasm</term><term>case–control</term><term>genetics</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>Molecular Chaperones</term><term>Receptors, Dopamine D5</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Blepharospasm</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharospasm</term><term>Linkage Disequilibrium</term><term>Microsatellite Repeats</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Molecular Chaperones</term><term>Receptors, Dopamine D5</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Blepharospasm</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Polymerase Chain Reaction</term><term>Severity of Illness Index</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Blépharospasme</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary blepharospasm is a common adult‐onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in DYT1 as previously described in an Icelandic population. We have also found global significant DYT1 haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li><li>États-Unis</li></country><region><li>Latium</li><li>Maryland</li></region><settlement><li>Rome</li></settlement></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Clarimon, Jordi" sort="Clarimon, Jordi" uniqKey="Clarimon J" first="Jordi" last="Clarimon">Jordi Clarimon</name></region><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><name sortKey="Peckham, Elizabeth" sort="Peckham, Elizabeth" uniqKey="Peckham E" first="Elizabeth" last="Peckham">Elizabeth Peckham</name><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></country><country name="Italie"><region name="Latium"><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></region><name sortKey="Abruzzese, Giovanni" sort="Abruzzese, Giovanni" uniqKey="Abruzzese G" first="Giovanni" last="Abruzzese">Giovanni Abruzzese</name><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003014 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003014 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:854124FBEA150B1B028D48C4CDB0FBCF3617E7D3
|texte= Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm
}}
| This area was generated with Dilib version V0.6.23. |  |