The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases
Identifieur interne : 001458 ( Istex/Checkpoint ); précédent : 001457; suivant : 001459The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases
Auteurs : Jenny Vaughan [Royaume-Uni] ; Alexandra Durr [France] ; Johann Tassin [France] ; Benjamin Bereznai [Allemagne] ; Thomas Gasser [Allemagne] ; Vincenzo Bonifati [Italie] ; Giuseppe De Michele [Italie] ; Edito Fabrizio [Italie] ; Gianpiero Volpe [Italie] ; O. Bandmann [Royaume-Uni] ; William G. Johnson [États-Unis] ; Lawrence I. Golbe [États-Unis] ; Monique Breteler [Pays-Bas] ; Giuseppe Meco [France] ; Yves Agid [France] ; Alexis Brice [Royaume-Uni] ; C. David Marsden [Royaume-Uni] ; C. David Wood [Royaume-Uni]Source :
- Annals of Neurology [ 0364-5134 ] ; 1998-08.
Abstract
We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the α‐synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.
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DOI: 10.1002/ana.410440221
Affiliations:
- Allemagne, France, Italie, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Bavière, District de Haute-Bavière, Grand Londres, Hollande-Méridionale, Latium, New Jersey, Île-de-France
- Londres, Munich, Paris, Rome, Rotterdam
- Hôpital de la Salpêtrière
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Bandmann</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Johnson, William G" sort="Johnson, William G" uniqKey="Johnson W" first="William G." last="Johnson">William G. Johnson</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Piscataway</wicri:cityArea></affiliation></author><author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Piscataway</wicri:cityArea></affiliation></author><author><name sortKey="Breteler, Monique" sort="Breteler, Monique" uniqKey="Breteler M" first="Monique" last="Breteler">Monique Breteler</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></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 xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Marsden, C David" sort="Marsden, C David" uniqKey="Marsden C" first="C. David" last="Marsden">C. David Marsden</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wood, C David" sort="Wood, C David" uniqKey="Wood C" first="C. David" last="Wood">C. David Wood</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1998-08">1998-08</date><biblScope unit="volume">44</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="270">270</biblScope><biblScope unit="page" to="273">273</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">FD0712BC624F73DEBC3DDAF9B9296F4258C1FA0F</idno><idno type="DOI">10.1002/ana.410440221</idno><idno type="ArticleID">ANA410440221</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the α‐synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bavière</li><li>District de Haute-Bavière</li><li>Grand Londres</li><li>Hollande-Méridionale</li><li>Latium</li><li>New Jersey</li><li>Île-de-France</li></region><settlement><li>Londres</li><li>Munich</li><li>Paris</li><li>Rome</li><li>Rotterdam</li></settlement><orgName><li>Hôpital de la Salpêtrière</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Vaughan, Jenny" sort="Vaughan, Jenny" uniqKey="Vaughan J" first="Jenny" last="Vaughan">Jenny Vaughan</name></region><name sortKey="Bandmann, O" sort="Bandmann, O" uniqKey="Bandmann O" first="O." last="Bandmann">O. Bandmann</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Marsden, C David" sort="Marsden, C David" uniqKey="Marsden C" first="C. David" last="Marsden">C. David Marsden</name><name sortKey="Wood, C David" sort="Wood, C David" uniqKey="Wood C" first="C. David" last="Wood">C. David Wood</name><name sortKey="Wood, C David" sort="Wood, C David" uniqKey="Wood C" first="C. David" last="Wood">C. David Wood</name></country><country name="France"><region name="Île-de-France"><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></region><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name><name sortKey="Tassin, Johann" sort="Tassin, Johann" uniqKey="Tassin J" first="Johann" last="Tassin">Johann Tassin</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Bereznai, Benjamin" sort="Bereznai, Benjamin" uniqKey="Bereznai B" first="Benjamin" last="Bereznai">Benjamin Bereznai</name></region><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></country><country name="Italie"><region name="Latium"><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></region><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name><name sortKey="Fabrizio, Edito" sort="Fabrizio, Edito" uniqKey="Fabrizio E" first="Edito" last="Fabrizio">Edito Fabrizio</name><name sortKey="Volpe, Gianpiero" sort="Volpe, Gianpiero" uniqKey="Volpe G" first="Gianpiero" last="Volpe">Gianpiero Volpe</name></country><country name="États-Unis"><region name="New Jersey"><name sortKey="Johnson, William G" sort="Johnson, William G" uniqKey="Johnson W" first="William G." last="Johnson">William G. Johnson</name></region><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Breteler, Monique" sort="Breteler, Monique" uniqKey="Breteler M" first="Monique" last="Breteler">Monique Breteler</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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