Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
Identifieur interne : 002820 ( Main/Exploration ); précédent : 002819; suivant : 002821Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
Auteurs : Elvira V. De Marco [Italie] ; Grazia Annesi [Italie] ; Patrizia Tarantino [Italie] ; Francesca E. Rocca [Italie] ; Giovanni Provenzano [Italie] ; Donatella Civitelli [Italie] ; Innocenza C. Cir Candiano [Italie] ; Ferdinanda Annesi [Italie] ; Sara Carrideo [Italie] ; Francesca Condino [Italie] ; Giuseppe Nicoletti [Italie] ; Demetrio Messina [Italie] ; Fabiana Novellino [Italie] ; Maurizio Morelli [Italie] ; Aldo Quattrone [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-02-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Aged, Asparagine (genetics), DNA Mutational Analysis, Female, Gaucher disease, Gaucher's disease, Gene Frequency, Genetic Predisposition to Disease, Genotype, Glucosylceramidase (genetics), Humans, Italy, Italy (epidemiology), Leucine (genetics), Lipids, Male, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Proline (genetics), Serine (genetics), glucocerebrosidase.
- MESH :
- chemical , genetics : Asparagine, Glucosylceramidase, Leucine, Proline, Serine.
- geographic , epidemiology : Italy.
- epidemiology : Parkinson Disease.
- genetics : Mutation, Parkinson Disease.
- Aged, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged.
Abstract
Recent studies have reported an association between the glucocerebrosidase (GBA) gene and Parkinson's disease (PD). To elucidate the role of this gene in our population, we screened 395 PD patients and 483 controls from southern Italy for the N370S and the L444P mutations. We found 11 patients (2.8%) carrying a heterozygous mutant GBA allele, whereas only one control subject (0.2%) had a heterozygous substitution (P = 0.0018). These results strongly suggest that Italian carriers of a GBA mutation have an increased risk of developing PD. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21892
Affiliations:
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De Marco</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Tarantino, Patrizia" sort="Tarantino, Patrizia" uniqKey="Tarantino P" first="Patrizia" last="Tarantino">Patrizia Tarantino</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Rocca, Francesca E" sort="Rocca, Francesca E" uniqKey="Rocca F" first="Francesca E." last="Rocca">Francesca E. 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Cir Candiano</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Condino, Francesca" sort="Condino, Francesca" uniqKey="Condino F" first="Francesca" last="Condino">Francesca Condino</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, University Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Messina, Demetrio" sort="Messina, Demetrio" uniqKey="Messina D" first="Demetrio" last="Messina">Demetrio Messina</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, University Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Novellino, Fabiana" sort="Novellino, Fabiana" uniqKey="Novellino F" first="Fabiana" last="Novellino">Fabiana Novellino</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, University Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Morelli, Maurizio" sort="Morelli, Maurizio" uniqKey="Morelli M" first="Maurizio" last="Morelli">Maurizio Morelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, University Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, University Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></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="2008-02-15">2008-02-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="460">460</biblScope><biblScope unit="page" to="463">463</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">84F758676313C3E6DF82F18517DA7FFF9EAA36CC</idno><idno type="DOI">10.1002/mds.21892</idno><idno type="ArticleID">MDS21892</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Asparagine (genetics)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gaucher disease</term><term>Gaucher's disease</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Italy</term><term>Italy (epidemiology)</term><term>Leucine (genetics)</term><term>Lipids</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Proline (genetics)</term><term>Serine (genetics)</term><term>glucocerebrosidase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Asparagine</term><term>Glucosylceramidase</term><term>Leucine</term><term>Proline</term><term>Serine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Italie</term><term>Lipide</term><term>Maladie de Parkinson</term><term>Mutation</term><term>Pathologie du système nerveux</term><term>Sphingolipidose héréditaire de Gaucher</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recent studies have reported an association between the glucocerebrosidase (GBA) gene and Parkinson's disease (PD). To elucidate the role of this gene in our population, we screened 395 PD patients and 483 controls from southern Italy for the N370S and the L444P mutations. We found 11 patients (2.8%) carrying a heterozygous mutant GBA allele, whereas only one control subject (0.2%) had a heterozygous substitution (P = 0.0018). These results strongly suggest that Italian carriers of a GBA mutation have an increased risk of developing PD. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><country name="Italie"><noRegion><name sortKey="De Marco, Elvira V" sort="De Marco, Elvira V" uniqKey="De Marco E" first="Elvira V." last="De Marco">Elvira V. De Marco</name></noRegion><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name><name sortKey="Cir Candiano, Innocenza C" sort="Cir Candiano, Innocenza C" uniqKey="Cir Candiano I" first="Innocenza C." last="Cir Candiano">Innocenza C. Cir Candiano</name><name sortKey="Civitelli, Donatella" sort="Civitelli, Donatella" uniqKey="Civitelli D" first="Donatella" last="Civitelli">Donatella Civitelli</name><name sortKey="Condino, Francesca" sort="Condino, Francesca" uniqKey="Condino F" first="Francesca" last="Condino">Francesca Condino</name><name sortKey="Messina, Demetrio" sort="Messina, Demetrio" uniqKey="Messina D" first="Demetrio" last="Messina">Demetrio Messina</name><name sortKey="Messina, Demetrio" sort="Messina, Demetrio" uniqKey="Messina D" first="Demetrio" last="Messina">Demetrio Messina</name><name sortKey="Morelli, Maurizio" sort="Morelli, Maurizio" uniqKey="Morelli M" first="Maurizio" last="Morelli">Maurizio Morelli</name><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name><name sortKey="Novellino, Fabiana" sort="Novellino, Fabiana" uniqKey="Novellino F" first="Fabiana" last="Novellino">Fabiana Novellino</name><name sortKey="Provenzano, Giovanni" sort="Provenzano, Giovanni" uniqKey="Provenzano G" first="Giovanni" last="Provenzano">Giovanni Provenzano</name><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><name sortKey="Rocca, Francesca E" sort="Rocca, Francesca E" uniqKey="Rocca F" first="Francesca E." last="Rocca">Francesca E. Rocca</name><name sortKey="Tarantino, Patrizia" sort="Tarantino, Patrizia" uniqKey="Tarantino P" first="Patrizia" last="Tarantino">Patrizia Tarantino</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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