Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.
Identifieur interne : 001292 ( Ncbi/Curation ); précédent : 001291; suivant : 001293Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.
Auteurs : Samer Karamohamed [États-Unis] ; L I Golbe ; M H Mark ; A M Lazzarini ; O. Suchowersky ; N. Labelle ; Mark Guttman ; L J Currie ; G F Wooten ; M. Stacy ; M. Saint-Hilaire ; R G Feldman ; J. Liu ; C M Shoemaker ; J B Wilk ; A L Destefano ; J C Latourelle ; G. Xu ; R. Watts ; J. Growdon ; M. Lew ; C. Waters ; P. Vieregge ; P P Pramstaller ; C. Klein ; B A Racette ; J S Perlmutter ; A. Parsian ; Carlos Singer ; E. Montgomery ; K. Baker ; J F Gusella ; A. Herbert ; R H MyersSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Aged, DNA-Binding Proteins (genetics), Gene Deletion, Genetic Predisposition to Disease, Genetic Variation (genetics), Genotype, Humans, Intracellular Signaling Peptides and Proteins, Middle Aged, Nuclear Receptor Subfamily 4, Group A, Member 2, Oncogene Proteins (genetics), Parkinson Disease (genetics), Point Mutation (genetics), Polymerase Chain Reaction, Risk Factors, Transcription Factors (genetics), alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : DNA-Binding Proteins, Oncogene Proteins, Transcription Factors, alpha-Synuclein.
- genetics : Genetic Variation, Parkinson Disease, Point Mutation.
- Aged, Gene Deletion, Genetic Predisposition to Disease, Genotype, Humans, Intracellular Signaling Peptides and Proteins, Middle Aged, Nuclear Receptor Subfamily 4, Group A, Member 2, Polymerase Chain Reaction, Risk Factors.
Abstract
Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study.
DOI: 10.1002/mds.20515
PubMed: 15966003
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pubmed:15966003Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.</title><author><name sortKey="Karamohamed, Samer" sort="Karamohamed, Samer" uniqKey="Karamohamed S" first="Samer" last="Karamohamed">Samer Karamohamed</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA. samer@bu.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Golbe, L I" sort="Golbe, L I" uniqKey="Golbe L" first="L I" last="Golbe">L I Golbe</name></author><author><name sortKey="Mark, M H" sort="Mark, M H" uniqKey="Mark M" first="M H" last="Mark">M H Mark</name></author><author><name sortKey="Lazzarini, A M" sort="Lazzarini, A M" uniqKey="Lazzarini A" first="A M" last="Lazzarini">A M Lazzarini</name></author><author><name sortKey="Suchowersky, O" sort="Suchowersky, O" uniqKey="Suchowersky O" first="O" last="Suchowersky">O. 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Baker</name></author><author><name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J F" last="Gusella">J F Gusella</name></author><author><name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A" last="Herbert">A. Herbert</name></author><author><name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R H" last="Myers">R H Myers</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20515</idno><idno type="RBID">pubmed:15966003</idno><idno type="pmid">15966003</idno><idno type="wicri:Area/PubMed/Corpus">003020</idno><idno type="wicri:Area/PubMed/Curation">003020</idno><idno type="wicri:Area/PubMed/Checkpoint">003252</idno><idno type="wicri:Area/Ncbi/Merge">001292</idno><idno type="wicri:Area/Ncbi/Curation">001292</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.</title><author><name sortKey="Karamohamed, Samer" sort="Karamohamed, Samer" uniqKey="Karamohamed S" first="Samer" last="Karamohamed">Samer Karamohamed</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA. samer@bu.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Golbe, L I" sort="Golbe, L I" uniqKey="Golbe L" first="L I" last="Golbe">L I Golbe</name></author><author><name sortKey="Mark, M H" sort="Mark, M H" uniqKey="Mark M" first="M H" last="Mark">M H Mark</name></author><author><name sortKey="Lazzarini, A M" sort="Lazzarini, A M" uniqKey="Lazzarini A" first="A M" last="Lazzarini">A M Lazzarini</name></author><author><name sortKey="Suchowersky, O" sort="Suchowersky, O" uniqKey="Suchowersky O" first="O" last="Suchowersky">O. Suchowersky</name></author><author><name sortKey="Labelle, N" sort="Labelle, N" uniqKey="Labelle N" first="N" last="Labelle">N. Labelle</name></author><author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name></author><author><name sortKey="Currie, L J" sort="Currie, L J" uniqKey="Currie L" first="L J" last="Currie">L J Currie</name></author><author><name sortKey="Wooten, G F" sort="Wooten, G F" uniqKey="Wooten G" first="G F" last="Wooten">G F Wooten</name></author><author><name sortKey="Stacy, M" sort="Stacy, M" uniqKey="Stacy M" first="M" last="Stacy">M. Stacy</name></author><author><name sortKey="Saint Hilaire, M" sort="Saint Hilaire, M" uniqKey="Saint Hilaire M" first="M" last="Saint-Hilaire">M. Saint-Hilaire</name></author><author><name sortKey="Feldman, R G" sort="Feldman, R G" uniqKey="Feldman R" first="R G" last="Feldman">R G Feldman</name></author><author><name sortKey="Liu, J" sort="Liu, J" uniqKey="Liu J" first="J" last="Liu">J. Liu</name></author><author><name sortKey="Shoemaker, C M" sort="Shoemaker, C M" uniqKey="Shoemaker C" first="C M" last="Shoemaker">C M Shoemaker</name></author><author><name sortKey="Wilk, J B" sort="Wilk, J B" uniqKey="Wilk J" first="J B" last="Wilk">J B Wilk</name></author><author><name sortKey="Destefano, A L" sort="Destefano, A L" uniqKey="Destefano A" first="A L" last="Destefano">A L Destefano</name></author><author><name sortKey="Latourelle, J C" sort="Latourelle, J C" uniqKey="Latourelle J" first="J C" last="Latourelle">J C Latourelle</name></author><author><name sortKey="Xu, G" sort="Xu, G" uniqKey="Xu G" first="G" last="Xu">G. Xu</name></author><author><name sortKey="Watts, R" sort="Watts, R" uniqKey="Watts R" first="R" last="Watts">R. Watts</name></author><author><name sortKey="Growdon, J" sort="Growdon, J" uniqKey="Growdon J" first="J" last="Growdon">J. Growdon</name></author><author><name sortKey="Lew, M" sort="Lew, M" uniqKey="Lew M" first="M" last="Lew">M. Lew</name></author><author><name sortKey="Waters, C" sort="Waters, C" uniqKey="Waters C" first="C" last="Waters">C. Waters</name></author><author><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P" last="Vieregge">P. Vieregge</name></author><author><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P P" last="Pramstaller">P P Pramstaller</name></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name></author><author><name sortKey="Racette, B A" sort="Racette, B A" uniqKey="Racette B" first="B A" last="Racette">B A Racette</name></author><author><name sortKey="Perlmutter, J S" sort="Perlmutter, J S" uniqKey="Perlmutter J" first="J S" last="Perlmutter">J S Perlmutter</name></author><author><name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A" last="Parsian">A. Parsian</name></author><author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name></author><author><name sortKey="Montgomery, E" sort="Montgomery, E" uniqKey="Montgomery E" first="E" last="Montgomery">E. Montgomery</name></author><author><name sortKey="Baker, K" sort="Baker, K" uniqKey="Baker K" first="K" last="Baker">K. Baker</name></author><author><name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J F" last="Gusella">J F Gusella</name></author><author><name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A" last="Herbert">A. Herbert</name></author><author><name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R H" last="Myers">R H Myers</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>DNA-Binding Proteins (genetics)</term><term>Gene Deletion</term><term>Genetic Predisposition to Disease</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins</term><term>Middle Aged</term><term>Nuclear Receptor Subfamily 4, Group A, Member 2</term><term>Oncogene Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Point Mutation (genetics)</term><term>Polymerase Chain Reaction</term><term>Risk Factors</term><term>Transcription Factors (genetics)</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term><term>Oncogene Proteins</term><term>Transcription Factors</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Variation</term><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Gene Deletion</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins</term><term>Middle Aged</term><term>Nuclear Receptor Subfamily 4, Group A, Member 2</term><term>Polymerase Chain Reaction</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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