PINK1 mutation heterozygosity and the risk of Parkinson’s disease
Identifieur interne : 000F95 ( Main/Exploration ); précédent : 000F94; suivant : 000F96PINK1 mutation heterozygosity and the risk of Parkinson’s disease
Auteurs : M. Toft [Norvège] ; R. Myhre [Norvège] ; L. Pielsticker [États-Unis] ; L R White [Norvège] ; J O Aasly [Norvège] ; M J Farrer [États-Unis]Source :
- Journal of Neurology, Neurosurgery & Psychiatry [ 0022-3050 ] ; 2007-01.
English descriptors
Abstract
Background: Mutations in the PTEN-induced kinase 1 (PINK1) gene have been identified in recessively inherited and sporadic early-onset parkinsonism (EOP). Methods: A total of 131 Norwegian patients diagnosed with Parkinson’s disease were included. Of them, 89 participants had EOP (onset ⩽50 years); the remaining had familial late-onset disease (mean age at onset 64 years). PINK1 analysis included sequencing and gene dose assessment. Mutations were examined in 350 controls. Results: Heterozygous missense mutations in PINK1 were found in 3 of 131 patients; none of the patients carried homozygous or compound heterozygous mutations. One of these three patients had a father affected by Parkinson’s disease, and he carried the mutation. Three new and seven known polymorphic variants were identified, although none seemed to be associated with disease risk. Conclusions:PINK1 mutations are rare in Norwegian patients with EOP and familial Parkinson’s disease. However, the data suggest that some heterozygous mutations might increase the risk of developing Parkinson’s disease.
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DOI: 10.1136/jnnp.2006.097840
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Pielsticker</name></author><author><name sortKey="White, L R" sort="White, L R" uniqKey="White L" first="L R" last="White">L R White</name></author><author><name sortKey="Aasly, J O" sort="Aasly, J O" uniqKey="Aasly J" first="J O" last="Aasly">J O Aasly</name></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M J" last="Farrer">M J Farrer</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:343400B3DBEFD8AD36EF4C624157449ECCA3F23D</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1136/jnnp.2006.097840</idno><idno type="url">https://api.istex.fr/document/343400B3DBEFD8AD36EF4C624157449ECCA3F23D/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">002696</idno><idno type="wicri:Area/Main/Curation">002355</idno><idno type="wicri:Area/Main/Exploration">000F95</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">PINK1 mutation heterozygosity and the risk of Parkinson’s disease</title><author><name sortKey="Toft, M" sort="Toft, M" uniqKey="Toft M" first="M" last="Toft">M. Toft</name><affiliation wicri:level="3"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Myhre, R" sort="Myhre, R" uniqKey="Myhre R" first="R" last="Myhre">R. Myhre</name><affiliation wicri:level="3"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Laboratory Medicine, Children’s and Women’s Health, Norwegian University of Science and Technology, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Pielsticker, L" sort="Pielsticker, L" uniqKey="Pielsticker L" first="L" last="Pielsticker">L. Pielsticker</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="White, L R" sort="White, L R" uniqKey="White L" first="L R" last="White">L R White</name><affiliation wicri:level="3"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Aasly, J O" sort="Aasly, J O" uniqKey="Aasly J" first="J O" last="Aasly">J O Aasly</name><affiliation wicri:level="3"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, St Olav’s University Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M J" last="Farrer">M J Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Neurology, Neurosurgery & Psychiatry</title><title level="j" type="abbrev">J Neurol Neurosurg Psychiatry</title><idno type="ISSN">0022-3050</idno><idno type="eISSN">1468-330X</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2007-01">2007-01</date><biblScope unit="volume">78</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="82">82</biblScope></imprint><idno type="ISSN">0022-3050</idno></series><idno type="istex">343400B3DBEFD8AD36EF4C624157449ECCA3F23D</idno><idno type="DOI">10.1136/jnnp.2006.097840</idno><idno type="href">jnnp-78-82.pdf</idno><idno type="PMID">17172567</idno><idno type="local">0780082</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-3050</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>EOP, early-onset parkinsonism</term><term>PINK1, PTEN-induced kinase 1</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Mutations in the PTEN-induced kinase 1 (PINK1) gene have been identified in recessively inherited and sporadic early-onset parkinsonism (EOP). Methods: A total of 131 Norwegian patients diagnosed with Parkinson’s disease were included. Of them, 89 participants had EOP (onset ⩽50 years); the remaining had familial late-onset disease (mean age at onset 64 years). PINK1 analysis included sequencing and gene dose assessment. Mutations were examined in 350 controls. Results: Heterozygous missense mutations in PINK1 were found in 3 of 131 patients; none of the patients carried homozygous or compound heterozygous mutations. One of these three patients had a father affected by Parkinson’s disease, and he carried the mutation. Three new and seven known polymorphic variants were identified, although none seemed to be associated with disease risk. Conclusions:PINK1 mutations are rare in Norwegian patients with EOP and familial Parkinson’s disease. However, the data suggest that some heterozygous mutations might increase the risk of developing Parkinson’s disease.</div></front></TEI><affiliations><list><country><li>Norvège</li><li>États-Unis</li></country><region><li>Floride</li><li>Trøndelag</li></region><settlement><li>Trondheim</li></settlement></list><tree><country name="Norvège"><region name="Trøndelag"><name sortKey="Toft, M" sort="Toft, M" uniqKey="Toft M" first="M" last="Toft">M. Toft</name></region><name sortKey="Aasly, J O" sort="Aasly, J O" uniqKey="Aasly J" first="J O" last="Aasly">J O Aasly</name><name sortKey="Myhre, R" sort="Myhre, R" uniqKey="Myhre R" first="R" last="Myhre">R. Myhre</name><name sortKey="White, L R" sort="White, L R" uniqKey="White L" first="L R" last="White">L R White</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Pielsticker, L" sort="Pielsticker, L" uniqKey="Pielsticker L" first="L" last="Pielsticker">L. 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