Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts
Identifieur interne : 001242 ( Main/Exploration ); précédent : 001241; suivant : 001243Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts
Auteurs : A. M. Schlitter [Allemagne] ; M. Kurz [Allemagne, Norvège] ; J. P. Larsen [Norvège] ; D. Woitalla [Allemagne] ; T. Müller [Allemagne] ; J. T. Epplen [Allemagne] ; G. Dekomien [Allemagne]Source :
- Acta Neurologica Scandinavica [ 0001-6314 ] ; 2006-01.
Descripteurs français
- Wicri :
- geographic : Norvège.
English descriptors
Abstract
Objectives – Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.
Url:
DOI: 10.1111/j.1600-0404.2005.00532.x
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts</title><author><name sortKey="Schlitter, A M" sort="Schlitter, A M" uniqKey="Schlitter A" first="A. M." last="Schlitter">A. M. Schlitter</name></author><author><name sortKey="Kurz, M" sort="Kurz, M" uniqKey="Kurz M" first="M." last="Kurz">M. Kurz</name></author><author><name sortKey="Larsen, J P" sort="Larsen, J P" uniqKey="Larsen J" first="J. P." last="Larsen">J. P. Larsen</name></author><author><name sortKey="Woitalla, D" sort="Woitalla, D" uniqKey="Woitalla D" first="D." last="Woitalla">D. Woitalla</name></author><author><name sortKey="Muller, T" sort="Muller, T" uniqKey="Muller T" first="T." last="Müller">T. Müller</name></author><author><name sortKey="Epplen, J T" sort="Epplen, J T" uniqKey="Epplen J" first="J. T." last="Epplen">J. T. Epplen</name></author><author><name sortKey="Dekomien, G" sort="Dekomien, G" uniqKey="Dekomien G" first="G." last="Dekomien">G. Dekomien</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:7B41AC9F60A28902A6470FD54E35C9AC23186D58</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1111/j.1600-0404.2005.00532.x</idno><idno type="url">https://api.istex.fr/document/7B41AC9F60A28902A6470FD54E35C9AC23186D58/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000931</idno><idno type="wicri:Area/Main/Curation">000809</idno><idno type="wicri:Area/Main/Exploration">001242</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts</title><author><name sortKey="Schlitter, A M" sort="Schlitter, A M" uniqKey="Schlitter A" first="A. M." last="Schlitter">A. M. Schlitter</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, Ruhr‐University Bochum, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Kurz, M" sort="Kurz, M" uniqKey="Kurz M" first="M." last="Kurz">M. Kurz</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Heinrich‐Heine‐University Düsseldorf, Dusseldorf</wicri:regionArea><wicri:noRegion>Dusseldorf</wicri:noRegion><wicri:noRegion>Dusseldorf</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, Stavanger University Hospital, Stavanger</wicri:regionArea><wicri:noRegion>Stavanger</wicri:noRegion></affiliation></author><author><name sortKey="Larsen, J P" sort="Larsen, J P" uniqKey="Larsen J" first="J. P." last="Larsen">J. P. Larsen</name><affiliation wicri:level="1"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, Stavanger University Hospital, Stavanger</wicri:regionArea><wicri:noRegion>Stavanger</wicri:noRegion></affiliation></author><author><name sortKey="Woitalla, D" sort="Woitalla, D" uniqKey="Woitalla D" first="D." last="Woitalla">D. Woitalla</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Muller, T" sort="Muller, T" uniqKey="Muller T" first="T." last="Müller">T. Müller</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Epplen, J T" sort="Epplen, J T" uniqKey="Epplen J" first="J. T." last="Epplen">J. T. Epplen</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, Ruhr‐University Bochum, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Dekomien, G" sort="Dekomien, G" uniqKey="Dekomien G" first="G." last="Dekomien">G. Dekomien</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, Ruhr‐University Bochum, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Acta Neurologica Scandinavica</title><idno type="ISSN">0001-6314</idno><idno type="eISSN">1600-0404</idno><imprint><publisher>Munksgaard International Publishers</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2006-01">2006-01</date><biblScope unit="volume">113</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="9">9</biblScope><biblScope unit="page" to="13">13</biblScope></imprint><idno type="ISSN">0001-6314</idno></series><idno type="istex">7B41AC9F60A28902A6470FD54E35C9AC23186D58</idno><idno type="DOI">10.1111/j.1600-0404.2005.00532.x</idno><idno type="ArticleID">ANE532</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0001-6314</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Norway</term><term>Parkin</term><term>heterozygosity</term><term>late‐onset Parkinson's disease</term><term>susceptibility allele</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Norvège</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objectives – Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Norvège</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Schlitter, A M" sort="Schlitter, A M" uniqKey="Schlitter A" first="A. M." last="Schlitter">A. M. Schlitter</name></noRegion><name sortKey="Dekomien, G" sort="Dekomien, G" uniqKey="Dekomien G" first="G." last="Dekomien">G. Dekomien</name><name sortKey="Epplen, J T" sort="Epplen, J T" uniqKey="Epplen J" first="J. T." last="Epplen">J. T. Epplen</name><name sortKey="Kurz, M" sort="Kurz, M" uniqKey="Kurz M" first="M." last="Kurz">M. Kurz</name><name sortKey="Muller, T" sort="Muller, T" uniqKey="Muller T" first="T." last="Müller">T. Müller</name><name sortKey="Woitalla, D" sort="Woitalla, D" uniqKey="Woitalla D" first="D." last="Woitalla">D. Woitalla</name></country><country name="Norvège"><noRegion><name sortKey="Kurz, M" sort="Kurz, M" uniqKey="Kurz M" first="M." last="Kurz">M. Kurz</name></noRegion><name sortKey="Larsen, J P" sort="Larsen, J P" uniqKey="Larsen J" first="J. P." last="Larsen">J. P. Larsen</name></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 001242 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001242 | 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:7B41AC9F60A28902A6470FD54E35C9AC23186D58
|texte= Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts
}}
| This area was generated with Dilib version V0.6.23. |  |