MovDisordV3, PascalFrancis, Curation, bibRecord, 001506

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm

Identifieur interne : 001506 ( PascalFrancis/Curation ); précédent : 001505; suivant : 001507

Assessing 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.

RBID : Pascal:07-0133237

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Blépharospasme.

English descriptors

KwdEn :
- Blepharospasm, Nervous system diseases.

Abstract

Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYTI) 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 DYTI 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.

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C03	`02`	`X`	`FRE`	`@0 Blépharospasme @5 02`
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C07	`02`	`X`	`SPA`	`@0 Párpado patología @5 38`
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Pascal:07-0133237

Le document en format XML

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<author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name>
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<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
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<author><name sortKey="Abruzzese, Giovanni" sort="Abruzzese, Giovanni" uniqKey="Abruzzese G" first="Giovanni" last="Abruzzese">Giovanni Abruzzese</name>
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<author><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name>
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<author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name>
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<author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurological Sciences (Rome) and Institute NEUROMED IRCCS (Pozzilli IS), University of Rome "La Sapienza</s1>
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<author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
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<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"><inist:fA14 i1="01"><s1>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Blepharospasm</term>
<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Blépharospasme</term>
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<front><div type="abstract" xml:lang="en">Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYTI) 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 DYTI 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.</div>
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<fA11 i1="07" i2="1"><s1>GIRLANDA (Paolo)</s1>
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<fA11 i1="08" i2="1"><s1>DEFAZIO (Giovanni)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>BERARDELLI (Alfredo)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>HALLETT (Mark)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>SINGLETON (Andrew B.)</s1>
</fA11>
<fA14 i1="01"><s1>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>IRCCS CSS, Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Biomedical Sciences, G. d'Annunzio University</s1>
<s2>Chieti</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Experimental Medicine and Pathology, La Sapienza University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Medical Neurologic Branch, NINDS-NIH</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Neurosciences, Ophthalmology and Genetics, University of Genova</s1>
<s2>Genova</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Neurologic and Psychiatric Sciences, University of Bari</s1>
<s2>Bari</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Department of Neurological Sciences (Rome) and Institute NEUROMED IRCCS (Pozzilli IS), University of Rome "La Sapienza</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA20><s1>162-166</s1>
</fA20>
<fA21><s1>2007</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000145528070020</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>17 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0133237</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYTI) 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 DYTI 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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17E</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Blépharospasme</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Blepharospasm</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Blefaroespasmo</s0>
<s5>02</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Oeil pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Eye disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Ojo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Paupière pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Eyelid disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Párpado patología</s0>
<s5>38</s5>
</fC07>
<fN21><s1>085</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm

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