Parkinson's disease: from monogenic forms to genetic susceptibility factors
Identifieur interne : 000026 ( Main/Corpus ); précédent : 000025; suivant : 000027Parkinson's disease: from monogenic forms to genetic susceptibility factors
Auteurs : Suzanne Lesage ; Alexis BriceSource :
- 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.
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DOI: 10.1093/hmg/ddp012
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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><istex><corpusName>oup</corpusName><author><json:item><name>Suzanne Lesage</name><affiliations><json:string>INSERM, UMRS679, Paris, France</json:string><json:string>Universit Pierre et Marie Curie-Paris6, UMR S679, Piti-Salptrire, Paris, France</json:string></affiliations></json:item><json:item><name>Alexis Brice</name><affiliations><json:string>INSERM, UMRS679, Paris, France</json:string><json:string>Universit Pierre et Marie Curie-Paris6, UMR S679, Piti-Salptrire, Paris, France</json:string><json:string>AP-HP, Groupe Piti-Salptrire, Fdration des Maladies du Systme Nerveux, Paris, France</json:string><json:string>AP-HP, Groupe Piti-Salptrire, Dpartement de Gntique, Cytogntique et Embryologie, Paris, France</json:string><json:string>E-mail: alexis.brice@upmc.fr</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>REVIEWS</value></json:item></subject><language><json:string>eng</json:string></language><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. 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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.</p></abstract></profileDesc><revisionDesc><change when="2009-04-15">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-15">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/73C2EE281B5F9A995846BCE9A8AD26340471BDD0/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus oup" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Publishing DTD v2.3 20070202//EN" URI="journalpublishing.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-id journal-id-type="hwp">hmg</journal-id><journal-title>Human Molecular Genetics</journal-title><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.1093/hmg/ddp012</article-id><article-id pub-id-type="publisher-id">ddp012</article-id><article-categories><subj-group subj-group-type="heading"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>Parkinson's disease: from monogenic forms to genetic susceptibility factors</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lesage</surname><given-names>Suzanne</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Alexis</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="aff" rid="af3">3</xref><xref ref-type="aff" rid="af4">4</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="af1"><label>1</label><institution>INSERM, UMR_S679</institution>, <addr-line>Paris</addr-line>, <country>France</country></aff><aff id="af2"><label>2</label><institution>Université Pierre et Marie Curie-Paris6, UMR S679, Pitié-Salpêtrière</institution>, <addr-line>Paris</addr-line>, <country>France</country></aff><aff id="af3"><label>3</label><addr-line>AP-HP, Groupe Pitié-Salpêtrière</addr-line>, <institution>Fédération des Maladies du Système Nerveux</institution>, <addr-line>Paris</addr-line>, <country>France</country></aff><aff id="af4"><label>4</label><addr-line>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique, Cytogénétique et Embryologie, Paris</addr-line>, <country>France</country></aff><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed. <institution>INSERM UMR_S679, Hôpital de la Salpêtrière, 47, Boulevard de l'Hôpital</institution>, <addr-line>75651 Paris cedex 13</addr-line>, <country>France</country>. Tel: <phone>+33 142162182</phone>; Fax: <fax>+33 144243658</fax>; Email: <email>alexis.brice@upmc.fr</email></corresp></author-notes><pub-date pub-type="ppub"><day>15</day><month>4</month><year>2009</year></pub-date><volume>18</volume><issue>R1</issue><fpage>R48</fpage><lpage>R59</lpage><history><date date-type="received"><day>23</day><month>12</month><year>2008</year></date><date date-type="rev-recd"><day>23</day><month>12</month><year>2008</year></date><date date-type="accepted"><day>5</day><month>1</month><year>2009</year></date></history><copyright-statement>© The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org</copyright-statement><copyright-year>2009</copyright-year><abstract><p>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 α-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 β-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.</p></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Parkinson's disease: from monogenic forms to genetic susceptibility factors</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Parkinson's disease: from monogenic forms to genetic susceptibility factors</title></titleInfo><name type="personal"><namePart type="given">Suzanne</namePart><namePart type="family">Lesage</namePart><affiliation></affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><affiliation></affiliation><affiliation></affiliation><affiliation></affiliation><affiliation></affiliation><affiliation>E-mail: alexis.brice@upmc.fr</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><originInfo><publisher>Oxford University Press</publisher><dateIssued encoding="w3cdtf">2009-04-15</dateIssued><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>Research in Parkinson's disease (PD) genetics has been extremely prolific over the past decade. 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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.</abstract><relatedItem type="host"><titleInfo><title>Human Molecular Genetics</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0964-6906</identifier><identifier type="eISSN">1460-2083</identifier><identifier type="PublisherID">hmg</identifier><identifier type="PublisherID-hwp">hmg</identifier><part><date>2009</date><detail type="volume"><caption>vol.</caption><number>18</number></detail><detail type="issue"><caption>no.</caption><number>R1</number></detail><extent unit="pages"><start>R48</start><end>R59</end></extent></part></relatedItem><identifier type="istex">73C2EE281B5F9A995846BCE9A8AD26340471BDD0</identifier><identifier type="DOI">10.1093/hmg/ddp012</identifier><identifier type="ArticleID">ddp012</identifier><accessCondition type="use and reproduction" contentType="copyright">The Author 2009. 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