Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm
Identifieur interne : 002F23 ( Istex/Curation ); précédent : 002F22; suivant : 002F24Assessing 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.
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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
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DOI: 10.1002/mds.21182
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Medicine and Pathology, La Sapienza University, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental Medicine and Pathology, La Sapienza University, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Abruzzese, Giovanni" sort="Abruzzese, Giovanni" uniqKey="Abruzzese G" first="Giovanni" last="Abruzzese">Giovanni Abruzzese</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova</wicri:regionArea></affiliation></author><author><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina, Messina, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina, Messina</wicri:regionArea></affiliation></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurologic and Psychiatric Sciences, University of Bari, Bari, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurologic and Psychiatric Sciences, University of Bari, Bari</wicri:regionArea></affiliation></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences (Rome) and Institute NEUROMED IRCCS (Pozzilli IS), University of Rome “La Sapienza,” Rome, Italy</mods:affiliation><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></affiliation></author><author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><affiliation wicri:level="1"><mods:affiliation>Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation><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></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="1"><mods:affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation><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></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>DRD5</term><term>DYT1</term><term>association</term><term>blepharospasm</term><term>case–control</term><term>genetics</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></record>Pour manipuler ce document sous Unix (Dilib)
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