Parkinson's disease: from monogenic forms to genetic susceptibility factors
Identifieur interne : 000862 ( Main/Exploration ); précédent : 000861; suivant : 000863Parkinson's disease: from monogenic forms to genetic susceptibility factors
Auteurs : Suzanne Lesage ; Alexis Brice [France]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2009-04-15.
Abstract
Research in Parkinson's disease (PD) genetics has been extremely prolific over the past decade. More than 13 loci and 9 genes have been identified, but their implication in PD is not always certain. Point mutations, duplications and triplications in the -synuclein (SNCA) gene cause a rare dominant form of PD in familial and sporadic cases. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are a more frequent cause of autosomal dominant PD, particularly in certain ethnic groups. Loss-of-function mutations in Parkin, PINK1, DJ-1 and ATP13A2 cause autosomal recessive parkinsonism with early-onset. Identification of other Mendelian forms of PD will be a main challenge for the next decade. In addition, susceptibility variants that contribute to PD have been identified in several populations, such as polymorphisms in the SNCA, LRRK2 genes and heterozygous mutations in the -glucocerebrosidase (GBA) gene. Genome-wide associations and re-sequencing projects, together with gene-environment interaction studies, are expected to further define the causal role of genetic determinants in the pathogenesis of PD, and improve prevention and treatment.
Url:
DOI: 10.1093/hmg/ddp012
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>Parkinson's disease: from monogenic forms to genetic susceptibility factors</title>
<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:73C2EE281B5F9A995846BCE9A8AD26340471BDD0</idno>
<date when="2009" year="2009">2009</date>
<idno type="doi">10.1093/hmg/ddp012</idno>
<idno type="url">https://api.istex.fr/document/73C2EE281B5F9A995846BCE9A8AD26340471BDD0/fulltext/pdf</idno>
<idno type="wicri:Area/Main/Corpus">000026</idno>
<idno type="wicri:Area/Main/Curation">000023</idno>
<idno type="wicri:Area/Main/Exploration">000862</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a">Parkinson's disease: from monogenic forms to genetic susceptibility factors</title>
<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation><wicri:noCountry code="syntax">???</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="syntax">???</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><wicri:noCountry code="syntax">???</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="syntax">???</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="syntax">???</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="syntax">???</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><country wicri:rule="url">France</country>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Human Molecular Genetics</title>
<idno type="ISSN">0964-6906</idno>
<idno type="eISSN">1460-2083</idno>
<imprint><publisher>Oxford University Press</publisher>
<date type="published" when="2009-04-15">2009-04-15</date>
<biblScope unit="volume">18</biblScope>
<biblScope unit="issue">R1</biblScope>
<biblScope unit="page" from="R48">R48</biblScope>
<biblScope unit="page" to="R59">R59</biblScope>
</imprint>
<idno type="ISSN">0964-6906</idno>
</series>
<idno type="istex">73C2EE281B5F9A995846BCE9A8AD26340471BDD0</idno>
<idno type="DOI">10.1093/hmg/ddp012</idno>
<idno type="ArticleID">ddp012</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0964-6906</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract">Research in Parkinson's disease (PD) genetics has been extremely prolific over the past decade. More than 13 loci and 9 genes have been identified, but their implication in PD is not always certain. Point mutations, duplications and triplications in the -synuclein (SNCA) gene cause a rare dominant form of PD in familial and sporadic cases. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are a more frequent cause of autosomal dominant PD, particularly in certain ethnic groups. Loss-of-function mutations in Parkin, PINK1, DJ-1 and ATP13A2 cause autosomal recessive parkinsonism with early-onset. Identification of other Mendelian forms of PD will be a main challenge for the next decade. In addition, susceptibility variants that contribute to PD have been identified in several populations, such as polymorphisms in the SNCA, LRRK2 genes and heterozygous mutations in the -glucocerebrosidase (GBA) gene. Genome-wide associations and re-sequencing projects, together with gene-environment interaction studies, are expected to further define the causal role of genetic determinants in the pathogenesis of PD, and improve prevention and treatment.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
</country>
</list>
<tree><noCountry><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
</noCountry>
<country name="France"><noRegion><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000862 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000862 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonV1 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:73C2EE281B5F9A995846BCE9A8AD26340471BDD0 |texte= Parkinson's disease: from monogenic forms to genetic susceptibility factors }}
This area was generated with Dilib version V0.6.23. |