ParkinsonFranceV1, Main, Merge, bibRecord, 001164

Identification of VPS35 mutations replicated in French families with Parkinson disease.

Identifieur interne : 001164 ( Main/Merge ); précédent : 001163; suivant : 001165

Identification of VPS35 mutations replicated in French families with Parkinson disease.

Auteurs : S. Lesage [France] ; C. Condroyer ; S. Klebe ; A. Honoré ; F. Tison ; C. Brefel-Courbon ; A. Dürr ; A. Brice

Source :

Neurology [ 1526-632X ] ; 2012.

RBID : pubmed:22517097

Descripteurs français

Wicri :
- geographic : France.

English descriptors

KwdEn :
- Adult, Aged, Alleles, DNA Mutational Analysis, Female, France, Genetic Testing, Genetic Variation (genetics), Genetics, Population, Haplotypes, Heterozygote Detection, Humans, Male, Middle Aged, Mutation, Missense (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Vesicular Transport Proteins (genetics).
MESH :
- chemical , genetics : Vesicular Transport Proteins.
- geographic : France.
- diagnosis : Parkinson Disease.
- genetics : Genetic Variation, Mutation, Missense, Parkinson Disease, Polymorphism, Single Nucleotide.
- Adult, Aged, Alleles, DNA Mutational Analysis, Female, Genetic Testing, Genetics, Population, Haplotypes, Heterozygote Detection, Humans, Male, Middle Aged.

Url:

http://www.hal.inserm.fr/inserm-00807463

DOI: 10.1212/WNL.0b013e318253d5f2
PubMed: 22517097

Links to Exploration step

pubmed:22517097

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en">Identification of VPS35 mutations replicated in French families with Parkinson disease.</title>
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</hal:affiliation>
<country>France</country>
</affiliation>
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<author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name>
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    </address>
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<tutelles><tutelle active="#struct-305495" type="direct"><org type="institution" xml:id="struct-305495" status="INCOMING">  <orgName>Hôpital Haut-Lévêque</orgName>
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    </address>
  </desc>
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</tutelle>
</tutelles>
</hal:affiliation>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Brefel Courbon, Christine" sort="Brefel Courbon, Christine" uniqKey="Brefel Courbon C" first="Christine" last="Brefel-Courbon">Christine Brefel-Courbon</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-218699" status="INCOMING">  <orgName>Service de Pharmacologie Médicale et Clinique</orgName>
  <desc>    <address>      <addrLine>Faculté, Toulouse</addrLine>
      <country key="FR"></country>
    </address>
  </desc>
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  <desc>    <address>      <addrLine>330 Avenue de Grande Bretagne, TSA 40031, 31059 Toulouse Cedex 09</addrLine>
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  <desc>    <address>      <country key="FR"></country>
    </address>
  </desc>
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</hal:affiliation>
<country>France</country>
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<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
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  <desc>    <address>      <addrLine>47-83, boulevard de l'Hôpital 75651 PARIS Cedex 13</addrLine>
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      <country key="FR"></country>
    </address>
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  </desc>
</org>
</tutelle>
<tutelle active="#struct-300068" type="indirect"><org type="institution" xml:id="struct-300068" status="VALID">  <orgName>Assistance publique - Hôpitaux de Paris (AP-HP)</orgName>
  <desc>    <address>      <country key="FR"></country>
    </address>
  </desc>
</org>
</tutelle>
<tutelle active="#struct-81470" type="direct"><org type="laboratory" xml:id="struct-81470" status="OLD">  <orgName>Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière</orgName>
  <orgName type="acronym">CRICM</orgName>
  <desc>    <address>      <addrLine>GH Pitié-Salpêtrière 47, boulevard de l'Hôpital 75651 Paris cedex 13</addrLine>
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      <country key="FR"></country>
    </address>
    <ref type="url">http://www.upmc.fr/</ref>
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<tutelle name="U975" active="#struct-303623" type="indirect"><org type="institution" xml:id="struct-303623" status="VALID">  <idno type="IdRef">026388278</idno>
  <orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
  <orgName type="acronym">INSERM</orgName>
  <desc>    <address>      <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine>
      <country key="FR"></country>
    </address>
    <ref type="url">http://www.inserm.fr</ref>
  </desc>
</org>
</tutelle>
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  <idno type="ISNI">0000000122597504</idno>
  <orgName>Centre National de la Recherche Scientifique</orgName>
  <orgName type="acronym">CNRS</orgName>
  <date type="start">1939-10-19</date>
  <desc>    <address>      <country key="FR"></country>
    </address>
    <ref type="url">http://www.cnrs.fr/</ref>
  </desc>
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</hal:affiliation>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="1"><hal:affiliation type="researchteam" xml:id="struct-393050" status="INCOMING">  <orgName>INSERM UMR_S975</orgName>
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    </address>
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<tutelles><tutelle active="#struct-16845" type="direct"><org type="department" xml:id="struct-16845" status="VALID">  <orgName>Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]</orgName>
  <desc>    <address>      <addrLine>47-83, boulevard de l'Hôpital 75651 PARIS Cedex 13</addrLine>
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      <country key="FR"></country>
    </address>
    <ref type="url">http://www.aphp.fr/contenu/hopital-universitaire-pitie-salpetriere-0</ref>
  </desc>
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    </address>
  </desc>
</org>
</tutelle>
<tutelle active="#struct-81470" type="direct"><org type="laboratory" xml:id="struct-81470" status="OLD">  <orgName>Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière</orgName>
  <orgName type="acronym">CRICM</orgName>
  <desc>    <address>      <addrLine>GH Pitié-Salpêtrière 47, boulevard de l'Hôpital 75651 Paris cedex 13</addrLine>
      <country key="FR"></country>
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    <ref type="url">http://www.cricm.upmc.fr/</ref>
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<tutelle active="#struct-93591" type="indirect"><org type="institution" xml:id="struct-93591" status="VALID">  <orgName>Université Pierre et Marie Curie - Paris 6</orgName>
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      <country key="FR"></country>
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  <orgName type="acronym">INSERM</orgName>
  <desc>    <address>      <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine>
      <country key="FR"></country>
    </address>
    <ref type="url">http://www.inserm.fr</ref>
  </desc>
</org>
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  <orgName>Centre National de la Recherche Scientifique</orgName>
  <orgName type="acronym">CNRS</orgName>
  <date type="start">1939-10-19</date>
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    </address>
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  </desc>
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</hal:affiliation>
<country>France</country>
</affiliation>
</author>
</analytic>
<idno type="DOI">10.1212/WNL.0b013e318253d5f2</idno>
<series><title level="j">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date type="datePub">2012-05-01</date>
</imprint>
</series>
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<front><div type="abstract" xml:lang="en">Parkinson disease (PD) is a progressive neurodegenerative disorder that mainly affects the elderly. Recently, the groups of Vilariño-Güell (2011) and Zimprich (2011) simultaneously reported identification, using next generation sequencing technologies, of p.Asp620Asn mutations in a novel gene, VPS35, that segregated with autosomal dominant late-onset PD in two large families from Switzerland and Austria, respectively. Screening of the whole gene in additional PD families led to the identification of six more families with the VPS35 p.Asp620Asn mutation (mutation frequencies: 0.0009 and 0.002, respectively). Here we screened the entire VPS35 coding sequence in 246 families with autosomal dominant PD, mostly of French origin. We found the p.Asp620Asn mutation in three French families that was absent in 245 European controls. The mutation frequency, 0.012, is greater than in the previous studies. No other potentially pathogenic VPS35 variants were detected in any of the remaining index cases. The associated phenotype in five patients in the three French families with the VPS35 p.Asp620Asn mutation resembles that of typical, late-onset PD, with a wide range of ages at onset (38 to 67 years).</div>
</front>
</TEI>
</HAL>
<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of VPS35 mutations replicated in French families with Parkinson disease.</title>
<author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
<affiliation wicri:level="3"><nlm:affiliation>Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Toulouse, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
</author>
<author><name sortKey="Klebe, S" sort="Klebe, S" uniqKey="Klebe S" first="S" last="Klebe">S. Klebe</name>
</author>
<author><name sortKey="Honore, A" sort="Honore, A" uniqKey="Honore A" first="A" last="Honoré">A. Honoré</name>
</author>
<author><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F" last="Tison">F. Tison</name>
</author>
<author><name sortKey="Brefel Courbon, C" sort="Brefel Courbon, C" uniqKey="Brefel Courbon C" first="C" last="Brefel-Courbon">C. Brefel-Courbon</name>
</author>
<author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name>
</author>
<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2012">2012</date>
<idno type="RBID">pubmed:22517097</idno>
<idno type="pmid">22517097</idno>
<idno type="doi">10.1212/WNL.0b013e318253d5f2</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Identification of VPS35 mutations replicated in French families with Parkinson disease.</title>
<author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
<affiliation wicri:level="3"><nlm:affiliation>Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Toulouse, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
</author>
<author><name sortKey="Klebe, S" sort="Klebe, S" uniqKey="Klebe S" first="S" last="Klebe">S. Klebe</name>
</author>
<author><name sortKey="Honore, A" sort="Honore, A" uniqKey="Honore A" first="A" last="Honoré">A. Honoré</name>
</author>
<author><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F" last="Tison">F. Tison</name>
</author>
<author><name sortKey="Brefel Courbon, C" sort="Brefel Courbon, C" uniqKey="Brefel Courbon C" first="C" last="Brefel-Courbon">C. Brefel-Courbon</name>
</author>
<author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name>
</author>
<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
</author>
</analytic>
<series><title level="j">Neurology</title>
<idno type="eISSN">1526-632X</idno>
<imprint><date when="2012" type="published">2012</date>
</imprint>
</series>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>France</term>
<term>Genetic Testing</term>
<term>Genetic Variation (genetics)</term>
<term>Genetics, Population</term>
<term>Haplotypes</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense (genetics)</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Vesicular Transport Proteins (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vesicular Transport Proteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Variation</term>
<term>Mutation, Missense</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Genetics, Population</term>
<term>Haplotypes</term>
<term>Heterozygote Detection</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>
</profileDesc>
</teiHeader>
</TEI>
</PubMed>
</double>
</record>

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La maladie de Parkinson en France (serveur d'exploration)

Identification of VPS35 mutations replicated in French families with Parkinson disease.

Identification of VPS35 mutations replicated in French families with Parkinson disease.

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	La maladie de Parkinson en France (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.