MovDisordV3, Main, Exploration, bibRecord, 003911

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

Identifieur interne : 003911 ( Main/Exploration ); précédent : 003910; suivant : 003912

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

Auteurs : Jose Miguel Bras [Portugal, États-Unis] ; Rita Joao Guerreiro [Portugal, États-Unis] ; Maria Helena Ribeiro [Portugal] ; Cristina Januario [Portugal] ; Ana Morgadinho [Portugal] ; Catarina Resende Oliveira [Portugal] ; Luis Cunha [Portugal] ; John Hardy [États-Unis] ; Andrew Singleton [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2005-12.

RBID : ISTEX:92EE4200E7E46BC3659925411F6CCA4F37BA2C2D

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Portugais, Substitution, Système nerveux pathologie.
Wicri :
- geographic : Portugal.

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Cohort Studies, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Glycine (genetics), Humans, LRRK2, Male, Middle Aged, Mutation (genetics), Nervous system diseases, PARK8, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Portugal (epidemiology), Portuguese, Protein-Serine-Threonine Kinases (genetics), Serine (genetics), Substitution, dardarin.
MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- geographic , epidemiology : Portugal.
- genetics : Mutation, Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Cohort Studies, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged.

Abstract

LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic‐based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/92EE4200E7E46BC3659925411F6CCA4F37BA2C2D/fulltext/pdf

DOI: 10.1002/mds.20682

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort</title>
<author><name sortKey="Bras, Jose Miguel" sort="Bras, Jose Miguel" uniqKey="Bras J" first="Jose Miguel" last="Bras">Jose Miguel Bras</name>
</author>
<author><name sortKey="Guerreiro, Rita Joao" sort="Guerreiro, Rita Joao" uniqKey="Guerreiro R" first="Rita Joao" last="Guerreiro">Rita Joao Guerreiro</name>
</author>
<author><name sortKey="Ribeiro, Maria Helena" sort="Ribeiro, Maria Helena" uniqKey="Ribeiro M" first="Maria Helena" last="Ribeiro">Maria Helena Ribeiro</name>
</author>
<author><name sortKey="Januario, Cristina" sort="Januario, Cristina" uniqKey="Januario C" first="Cristina" last="Januario">Cristina Januario</name>
</author>
<author><name sortKey="Morgadinho, Ana" sort="Morgadinho, Ana" uniqKey="Morgadinho A" first="Ana" last="Morgadinho">Ana Morgadinho</name>
</author>
<author><name sortKey="Oliveira, Catarina Resende" sort="Oliveira, Catarina Resende" uniqKey="Oliveira C" first="Catarina Resende" last="Oliveira">Catarina Resende Oliveira</name>
</author>
<author><name sortKey="Cunha, Luis" sort="Cunha, Luis" uniqKey="Cunha L" first="Luis" last="Cunha">Luis Cunha</name>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:92EE4200E7E46BC3659925411F6CCA4F37BA2C2D</idno>
<date when="2005" year="2005">2005</date>
<idno type="doi">10.1002/mds.20682</idno>
<idno type="url">https://api.istex.fr/document/92EE4200E7E46BC3659925411F6CCA4F37BA2C2D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003745</idno>
<idno type="wicri:Area/Istex/Curation">003745</idno>
<idno type="wicri:Area/Istex/Checkpoint">002321</idno>
<idno type="wicri:doubleKey">0885-3185:2005:Bras J:g:s:dardarin</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:16149095</idno>
<idno type="wicri:Area/PubMed/Corpus">002E84</idno>
<idno type="wicri:Area/PubMed/Curation">002E84</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003124</idno>
<idno type="wicri:Area/Ncbi/Merge">001428</idno>
<idno type="wicri:Area/Ncbi/Curation">001428</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001428</idno>
<idno type="wicri:doubleKey">0885-3185:2005:Bras J:g:s:dardarin</idno>
<idno type="wicri:Area/Main/Merge">004F98</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:06-0191541</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001C18</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001103</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001E43</idno>
<idno type="wicri:doubleKey">0885-3185:2005:Bras J:g:s:dardarin</idno>
<idno type="wicri:Area/Main/Merge">005321</idno>
<idno type="wicri:Area/Main/Curation">003911</idno>
<idno type="wicri:Area/Main/Exploration">003911</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort</title>
<author><name sortKey="Bras, Jose Miguel" sort="Bras, Jose Miguel" uniqKey="Bras J" first="Jose Miguel" last="Bras">Jose Miguel Bras</name>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Neurology Service, Coimbra University Hospital, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Institute of Biochemistry, Faculty of Medicine, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Guerreiro, Rita Joao" sort="Guerreiro, Rita Joao" uniqKey="Guerreiro R" first="Rita Joao" last="Guerreiro">Rita Joao Guerreiro</name>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Neurology Service, Coimbra University Hospital, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Institute of Biochemistry, Faculty of Medicine, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ribeiro, Maria Helena" sort="Ribeiro, Maria Helena" uniqKey="Ribeiro M" first="Maria Helena" last="Ribeiro">Maria Helena Ribeiro</name>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Neurology Service, Coimbra University Hospital, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Institute of Biochemistry, Faculty of Medicine, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Januario, Cristina" sort="Januario, Cristina" uniqKey="Januario C" first="Cristina" last="Januario">Cristina Januario</name>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Neurology Service, Coimbra University Hospital, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Morgadinho, Ana" sort="Morgadinho, Ana" uniqKey="Morgadinho A" first="Ana" last="Morgadinho">Ana Morgadinho</name>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Neurology Service, Coimbra University Hospital, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Oliveira, Catarina Resende" sort="Oliveira, Catarina Resende" uniqKey="Oliveira C" first="Catarina Resende" last="Oliveira">Catarina Resende Oliveira</name>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Neurology Service, Coimbra University Hospital, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Institute of Biochemistry, Faculty of Medicine, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cunha, Luis" sort="Cunha, Luis" uniqKey="Cunha L" first="Luis" last="Cunha">Luis Cunha</name>
<affiliation wicri:level="1"><country xml:lang="fr">Portugal</country>
<wicri:regionArea>Neurology Service, Coimbra University Hospital, Coimbra</wicri:regionArea>
<wicri:noRegion>Coimbra</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</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="2005-12">2005-12</date>
<biblScope unit="vol">20</biblScope>
<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="1653">1653</biblScope>
<biblScope unit="page" to="1655">1655</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">92EE4200E7E46BC3659925411F6CCA4F37BA2C2D</idno>
<idno type="DOI">10.1002/mds.20682</idno>
<idno type="ArticleID">MDS20682</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Cohort Studies</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>LRRK2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<term>PARK8</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Portugal (epidemiology)</term>
<term>Portuguese</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Serine (genetics)</term>
<term>Substitution</term>
<term>dardarin</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term>
<term>Protein-Serine-Threonine Kinases</term>
<term>Serine</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Portugal</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>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Cohort Studies</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Portugais</term>
<term>Substitution</term>
<term>Système nerveux pathologie</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Portugal</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic‐based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. © 2005 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Portugal</li>
<li>États-Unis</li>
</country>
<region><li>Maryland</li>
</region>
</list>
<tree><country name="Portugal"><noRegion><name sortKey="Bras, Jose Miguel" sort="Bras, Jose Miguel" uniqKey="Bras J" first="Jose Miguel" last="Bras">Jose Miguel Bras</name>
</noRegion>
<name sortKey="Bras, Jose Miguel" sort="Bras, Jose Miguel" uniqKey="Bras J" first="Jose Miguel" last="Bras">Jose Miguel Bras</name>
<name sortKey="Cunha, Luis" sort="Cunha, Luis" uniqKey="Cunha L" first="Luis" last="Cunha">Luis Cunha</name>
<name sortKey="Guerreiro, Rita Joao" sort="Guerreiro, Rita Joao" uniqKey="Guerreiro R" first="Rita Joao" last="Guerreiro">Rita Joao Guerreiro</name>
<name sortKey="Guerreiro, Rita Joao" sort="Guerreiro, Rita Joao" uniqKey="Guerreiro R" first="Rita Joao" last="Guerreiro">Rita Joao Guerreiro</name>
<name sortKey="Januario, Cristina" sort="Januario, Cristina" uniqKey="Januario C" first="Cristina" last="Januario">Cristina Januario</name>
<name sortKey="Morgadinho, Ana" sort="Morgadinho, Ana" uniqKey="Morgadinho A" first="Ana" last="Morgadinho">Ana Morgadinho</name>
<name sortKey="Oliveira, Catarina Resende" sort="Oliveira, Catarina Resende" uniqKey="Oliveira C" first="Catarina Resende" last="Oliveira">Catarina Resende Oliveira</name>
<name sortKey="Oliveira, Catarina Resende" sort="Oliveira, Catarina Resende" uniqKey="Oliveira C" first="Catarina Resende" last="Oliveira">Catarina Resende Oliveira</name>
<name sortKey="Ribeiro, Maria Helena" sort="Ribeiro, Maria Helena" uniqKey="Ribeiro M" first="Maria Helena" last="Ribeiro">Maria Helena Ribeiro</name>
<name sortKey="Ribeiro, Maria Helena" sort="Ribeiro, Maria Helena" uniqKey="Ribeiro M" first="Maria Helena" last="Ribeiro">Maria Helena Ribeiro</name>
</country>
<country name="États-Unis"><region name="Maryland"><name sortKey="Bras, Jose Miguel" sort="Bras, Jose Miguel" uniqKey="Bras J" first="Jose Miguel" last="Bras">Jose Miguel Bras</name>
</region>
<name sortKey="Guerreiro, Rita Joao" sort="Guerreiro, Rita Joao" uniqKey="Guerreiro R" first="Rita Joao" last="Guerreiro">Rita Joao Guerreiro</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003911 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003911 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:92EE4200E7E46BC3659925411F6CCA4F37BA2C2D
   |texte=   G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	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.