ParkinsonFranceV1, Hal, Corpus, bibRecord, 000973

Role of mendelian genes in "sporadic" Parkinson's disease.

Identifieur interne : 000973 ( Hal/Corpus ); précédent : 000972; suivant : 000974

Role of mendelian genes in "sporadic" Parkinson's disease.

Auteurs : Suzanne Lesage ; Alexis Brice

Source :

Parkinsonism and Related Disorders [ 1353-8020 ] ; 2012-01.

RBID : Hal:inserm-00807470

Abstract

The molecular mechanisms underlying neuronal degeneration leading to Parkinson's disease (PD) remain unknown. However, it is becoming increasingly clear that genetic factors contribute to its complex pathogenesis. In the past 15 years, the genetic basis of rare forms of PD with Mendelian inheritance, which represent no more than 10% of the cases, has been investigated. More than 18 loci, identified through linkage analysis or genome wide association studies (GWAS), and eight validated genes have been identified so far [parkin, PTEN-induced kinase 1 (PINK1), DJ-1, ATP13A2, SNCA, Leucine-rich repeat kinase 2 (LRRK2), as well as two recently identified possibly causative genes, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4G1 (EIF4G1)]. Many studies have shed light on their implication not only in familial but also in sporadic forms of PD. Recent GWAS have provided convincing evidence that polymorphic variants in these genes also confer an increased risk for late-onset sporadic PD. In addition, heterozygous mutations in GBA have now been well-validated as susceptibility factors for PD. The role of the most relevant associated genes and risk factors in sporadic PD are discussed in this review.

Url:

http://www.hal.inserm.fr/inserm-00807470

DOI: 10.1016/S1353-8020(11)70022-0

Links to Exploration step

Hal:inserm-00807470

Le document en format XML

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<front><div type="abstract" xml:lang="en">The molecular mechanisms underlying neuronal degeneration leading to Parkinson's disease (PD) remain unknown. However, it is becoming increasingly clear that genetic factors contribute to its complex pathogenesis. In the past 15 years, the genetic basis of rare forms of PD with Mendelian inheritance, which represent no more than 10% of the cases, has been investigated. More than 18 loci, identified through linkage analysis or genome wide association studies (GWAS), and eight validated genes have been identified so far [parkin, PTEN-induced kinase 1 (PINK1), DJ-1, ATP13A2, SNCA, Leucine-rich repeat kinase 2 (LRRK2), as well as two recently identified possibly causative genes, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4G1 (EIF4G1)]. Many studies have shed light on their implication not only in familial but also in sporadic forms of PD. Recent GWAS have provided convincing evidence that polymorphic variants in these genes also confer an increased risk for late-onset sporadic PD. In addition, heterozygous mutations in GBA have now been well-validated as susceptibility factors for PD. The role of the most relevant associated genes and risk factors in sporadic PD are discussed in this review.</div>
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                    <surname>Lesage</surname>
                  </persName>
                  <email type="md5">bed3a0427a16e76deabb9d0acc6aa5f0</email>
                  <email type="domain">upmc.fr</email>
                  <idno type="halauthorid">833721</idno>
                  <affiliation ref="#struct-393048"></affiliation>
                </author>
                <author role="crp">                  <persName>                    <forename type="first">Alexis</forename>
                    <surname>Brice</surname>
                  </persName>
                  <email type="md5">ea06b61f8a5e647b8d1798e1cad02214</email>
                  <email type="domain">upmc.fr</email>
                  <idno type="halauthorid">423807</idno>
                  <affiliation ref="#struct-393050"></affiliation>
                </author>
              </analytic>
              <monogr>                <idno type="halJournalId" status="VALID">17779</idno>
                <idno type="issn">1353-8020</idno>
                <title level="j">Parkinsonism and Related Disorders</title>
                <imprint>                  <publisher>Elsevier</publisher>
                  <biblScope unit="volume">18 Suppl 1</biblScope>
                  <biblScope unit="pp">S66-70</biblScope>
                  <date type="datePub">2012-01</date>
                </imprint>
              </monogr>
              <idno type="doi">10.1016/S1353-8020(11)70022-0</idno>
              <idno type="pubmed">22166458</idno>
            </biblStruct>
          </sourceDesc>
          <profileDesc>            <langUsage>              <language ident="en">English</language>
            </langUsage>
            <textClass>              <classCode scheme="mesh">Animals</classCode>
              <classCode scheme="mesh">Gene Frequency</classCode>
              <classCode scheme="mesh">Genetic Predisposition to Disease</classCode>
              <classCode scheme="mesh">Genetic Variation</classCode>
              <classCode scheme="mesh">Humans</classCode>
              <classCode scheme="mesh">Parkinson Disease</classCode>
              <classCode scheme="mesh">Risk Factors</classCode>
              <classCode scheme="mesh">Ubiquitin-Protein Ligases</classCode>
              <classCode scheme="halDomain" n="sdv.neu">Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]</classCode>
              <classCode scheme="halTypology" n="ART">Journal articles</classCode>
            </textClass>
            <abstract xml:lang="en">The molecular mechanisms underlying neuronal degeneration leading to Parkinson's disease (PD) remain unknown. However, it is becoming increasingly clear that genetic factors contribute to its complex pathogenesis. In the past 15 years, the genetic basis of rare forms of PD with Mendelian inheritance, which represent no more than 10% of the cases, has been investigated. More than 18 loci, identified through linkage analysis or genome wide association studies (GWAS), and eight validated genes have been identified so far [parkin, PTEN-induced kinase 1 (PINK1), DJ-1, ATP13A2, SNCA, Leucine-rich repeat kinase 2 (LRRK2), as well as two recently identified possibly causative genes, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4G1 (EIF4G1)]. Many studies have shed light on their implication not only in familial but also in sporadic forms of PD. Recent GWAS have provided convincing evidence that polymorphic variants in these genes also confer an increased risk for late-onset sporadic PD. In addition, heterozygous mutations in GBA have now been well-validated as susceptibility factors for PD. The role of the most relevant associated genes and risk factors in sporadic PD are discussed in this review.</abstract>
          </profileDesc>
        </hal>
</record>

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

Role of mendelian genes in "sporadic" Parkinson's disease.

Role of mendelian genes in "sporadic" Parkinson's disease.

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