G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome
Identifieur interne : 000E76 ( Main/Exploration ); précédent : 000E75; suivant : 000E77G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome
Auteurs : Suzanne Lesage [France] ; Mathieu Anheim [France] ; Franck Letournel ; Luc Bousset ; Aurélie Honoré [France] ; Nelly Rozas [France] ; Laura Pieri ; Karine Madiona ; Alexandra Dürr [France] ; Ronald Melki ; Christophe Verny [France] ; Alexis Brice [France]Source :
- Annals of Neurology [ 0364-5134 ] ; 2013-04.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Amyloid (metabolism), Amyloid (ultrastructure), Aspartic Acid (genetics), Blepharospasm (genetics), Blepharospasm (pathology), Caspase 3 (metabolism), DNA Mutational Analysis, Dose-Response Relationship, Drug, Family Health, Female, France, Globus Pallidus (pathology), Glycine (genetics), Humans, Male, Middle Aged, Mutation, Missense (genetics), Neuroblastoma (pathology), Neurofilament Proteins (metabolism), Parkinson Disease, Secondary (genetics), Parkinson Disease, Secondary (pathology), alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : Aspartic Acid, Glycine, alpha-Synuclein.
- chemical , metabolism : Amyloid, Caspase 3, Neurofilament Proteins.
- chemical , ultrastructure : Amyloid.
- geographic : France.
- genetics : Blepharospasm, Mutation, Missense, Parkinson Disease, Secondary.
- pathology : Blepharospasm, Globus Pallidus, Neuroblastoma, Parkinson Disease, Secondary.
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Dose-Response Relationship, Drug, Family Health, Female, Humans, Male, Middle Aged.
Abstract
To date, 3 rare missense mutations in the SNCA (α‐synuclein) gene and the more frequent duplications or triplications of the wild‐type gene are known to cause a broad array of clinical and pathological symptoms in familial Parkinson disease (PD). Here, we describe a French family with a parkinsonian–pyramidal syndrome harboring a novel heterozygous SNCA mutation.
Url:
- https://api.istex.fr/document/048D9D8ECF56853F096B9AFD7B3544CE8A5B9BAC/fulltext/pdf
- https://hal-univ-rennes1.archives-ouvertes.fr/hal-01133851
DOI: 10.1002/ana.23894
Affiliations:
- France
- Alsace (région administrative), Grand Est, Pays de la Loire, Île-de-France
- Angers, Paris, Strasbourg
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Le document en format XML
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wicri:level="3"><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>Pierre and Marie Curie University–Paris 6, Research Center of the Institute for Brain and Spinal Cord, National Institute of Health and Medical Research</wicri:orgArea></affiliation><affiliation><wicri:noCountry code="no comma">Department of Genetics and Cytogenetics</wicri:noCountry></affiliation></author><author><name sortKey="Melki, Ronald" sort="Melki, Ronald" uniqKey="Melki R" first="Ronald" last="Melki">Ronald Melki</name><affiliation><wicri:noCountry code="subField">Gif‐sur‐Yvette</wicri:noCountry></affiliation></author><author><name sortKey="Verny, Christophe" sort="Verny, Christophe" uniqKey="Verny C" first="Christophe" last="Verny">Christophe Verny</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>University of Angers, National Center for Scientific Research, National Institute of Health and Medical Research and Neurology Service, National Reference Center for Neurogenetic Diseases, Angers University Hospital Center, Angers</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>Pierre and Marie Curie University–Paris 6, Research Center of the Institute for Brain and Spinal Cord, National Institute of Health and Medical Research</wicri:orgArea></affiliation><affiliation></affiliation><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><date type="published" when="2013-04">2013-04</date><biblScope unit="volume">73</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="459">459</biblScope><biblScope unit="page" to="471">471</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">048D9D8ECF56853F096B9AFD7B3544CE8A5B9BAC</idno><idno type="DOI">10.1002/ana.23894</idno><idno type="ArticleID">ANA23894</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Amyloid (metabolism)</term><term>Amyloid (ultrastructure)</term><term>Aspartic Acid (genetics)</term><term>Blepharospasm (genetics)</term><term>Blepharospasm (pathology)</term><term>Caspase 3 (metabolism)</term><term>DNA Mutational Analysis</term><term>Dose-Response Relationship, Drug</term><term>Family Health</term><term>Female</term><term>France</term><term>Globus Pallidus (pathology)</term><term>Glycine (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense (genetics)</term><term>Neuroblastoma (pathology)</term><term>Neurofilament Proteins (metabolism)</term><term>Parkinson Disease, Secondary (genetics)</term><term>Parkinson Disease, Secondary (pathology)</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Aspartic Acid</term><term>Glycine</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Amyloid</term><term>Caspase 3</term><term>Neurofilament Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="ultrastructure" xml:lang="en"><term>Amyloid</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharospasm</term><term>Mutation, Missense</term><term>Parkinson Disease, Secondary</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Blepharospasm</term><term>Globus Pallidus</term><term>Neuroblastoma</term><term>Parkinson Disease, Secondary</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Dose-Response Relationship, Drug</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">To date, 3 rare missense mutations in the SNCA (α‐synuclein) gene and the more frequent duplications or triplications of the wild‐type gene are known to cause a broad array of clinical and pathological symptoms in familial Parkinson disease (PD). Here, we describe a French family with a parkinsonian–pyramidal syndrome harboring a novel heterozygous SNCA mutation.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Alsace (région administrative)</li><li>Grand Est</li><li>Pays de la Loire</li><li>Île-de-France</li></region><settlement><li>Angers</li><li>Paris</li><li>Strasbourg</li></settlement></list><tree><noCountry><name sortKey="Bousset, Luc" sort="Bousset, Luc" uniqKey="Bousset L" first="Luc" last="Bousset">Luc Bousset</name><name sortKey="Letournel, Franck" sort="Letournel, Franck" uniqKey="Letournel F" first="Franck" last="Letournel">Franck Letournel</name><name sortKey="Madiona, Karine" sort="Madiona, Karine" uniqKey="Madiona K" first="Karine" last="Madiona">Karine Madiona</name><name sortKey="Melki, Ronald" sort="Melki, Ronald" uniqKey="Melki R" first="Ronald" last="Melki">Ronald Melki</name><name sortKey="Pieri, Laura" sort="Pieri, Laura" uniqKey="Pieri L" first="Laura" last="Pieri">Laura Pieri</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></region><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Honore, Aurelie" sort="Honore, Aurelie" uniqKey="Honore A" first="Aurélie" last="Honoré">Aurélie Honoré</name><name sortKey="Rozas, Nelly" sort="Rozas, Nelly" uniqKey="Rozas N" first="Nelly" last="Rozas">Nelly Rozas</name><name sortKey="Verny, Christophe" sort="Verny, Christophe" uniqKey="Verny C" first="Christophe" last="Verny">Christophe Verny</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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