Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
Identifieur interne : 001815 ( PascalFrancis/Corpus ); précédent : 001814; suivant : 001816Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
Auteurs : Jordi Clarimon ; Francesco Brancati ; Elizabeth Peckham ; Enza Maria Valente ; Bruno Dallapiccola ; Giovanni Abruzzese ; Paolo Girlanda ; Giovanni Defazio ; Alfredo Berardelli ; Mark Hallett ; Andrew B. SingletonSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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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Format Inist (serveur)
NO : | PASCAL 07-0133237 INIST |
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ET : | Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm |
AU : | CLARIMON (Jordi); BRANCATI (Francesco); PECKHAM (Elizabeth); VALENTE (Enza Maria); DALLAPICCOLA (Bruno); ABRUZZESE (Giovanni); GIRLANDA (Paolo); DEFAZIO (Giovanni); BERARDELLI (Alfredo); HALLETT (Mark); SINGLETON (Andrew B.) |
AF : | Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health/Bethesda, Maryland/Etats-Unis (1 aut., 11 aut.); IRCCS CSS, Mendel Institute/Rome/Italie (2 aut., 4 aut., 5 aut.); Department of Biomedical Sciences, G. d'Annunzio University/Chieti/Italie (2 aut.); Department of Experimental Medicine and Pathology, La Sapienza University/Rome/Italie (2 aut., 5 aut.); Medical Neurologic Branch, NINDS-NIH/Bethesda, Maryland/Etats-Unis (3 aut.); Department of Neurosciences, Ophthalmology and Genetics, University of Genova/Genova/Italie (6 aut.); Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina/Messina/Italie (7 aut.); Department of Neurologic and Psychiatric Sciences, University of Bari/Bari/Italie (8 aut.); Department of Neurological Sciences (Rome) and Institute NEUROMED IRCCS (Pozzilli IS), University of Rome "La Sapienza/Rome/Italie (9 aut.); Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health/Bethesda, Maryland/Etats-Unis (10 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 2; Pp. 162-166; Bibl. 17 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17; 002B17E; 002B17H |
FD : | Système nerveux pathologie; Blépharospasme |
FG : | Oeil pathologie; Paupière pathologie |
ED : | Nervous system diseases; Blepharospasm |
EG : | Eye disease; Eyelid disease |
SD : | Sistema nervioso patología; Blefaroespasmo |
LO : | INIST-20953.354000145528070020 |
ID : | 07-0133237 |
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Pascal:07-0133237Le document en format XML
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<series><title level="j" type="main">Movement disorders</title>
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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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<sZ>9 aut.</sZ>
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<s5>02</s5>
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<s5>02</s5>
</fC03>
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<s5>37</s5>
</fC07>
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<s5>37</s5>
</fC07>
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<s5>37</s5>
</fC07>
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<s5>38</s5>
</fC07>
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<s5>38</s5>
</fC07>
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<s5>38</s5>
</fC07>
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</fN21>
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<server><NO>PASCAL 07-0133237 INIST</NO>
<ET>Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm</ET>
<AU>CLARIMON (Jordi); BRANCATI (Francesco); PECKHAM (Elizabeth); VALENTE (Enza Maria); DALLAPICCOLA (Bruno); ABRUZZESE (Giovanni); GIRLANDA (Paolo); DEFAZIO (Giovanni); BERARDELLI (Alfredo); HALLETT (Mark); SINGLETON (Andrew B.)</AU>
<AF>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health/Bethesda, Maryland/Etats-Unis (1 aut., 11 aut.); IRCCS CSS, Mendel Institute/Rome/Italie (2 aut., 4 aut., 5 aut.); Department of Biomedical Sciences, G. d'Annunzio University/Chieti/Italie (2 aut.); Department of Experimental Medicine and Pathology, La Sapienza University/Rome/Italie (2 aut., 5 aut.); Medical Neurologic Branch, NINDS-NIH/Bethesda, Maryland/Etats-Unis (3 aut.); Department of Neurosciences, Ophthalmology and Genetics, University of Genova/Genova/Italie (6 aut.); Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina/Messina/Italie (7 aut.); Department of Neurologic and Psychiatric Sciences, University of Bari/Bari/Italie (8 aut.); Department of Neurological Sciences (Rome) and Institute NEUROMED IRCCS (Pozzilli IS), University of Rome "La Sapienza/Rome/Italie (9 aut.); Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health/Bethesda, Maryland/Etats-Unis (10 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 2; Pp. 162-166; Bibl. 17 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17E; 002B17H</CC>
<FD>Système nerveux pathologie; Blépharospasme</FD>
<FG>Oeil pathologie; Paupière pathologie</FG>
<ED>Nervous system diseases; Blepharospasm</ED>
<EG>Eye disease; Eyelid disease</EG>
<SD>Sistema nervioso patología; Blefaroespasmo</SD>
<LO>INIST-20953.354000145528070020</LO>
<ID>07-0133237</ID>
</server>
</inist>
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