JankovicV1, PubMed, Curation, bibRecord, 000164

A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.

Identifieur interne : 000164 ( PubMed/Curation ); précédent : 000163; suivant : 000165

A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.

Auteurs : L. Warren [États-Unis] ; R. Gibson ; L. Ishihara ; R. Elango ; Z. Xue ; A. Akkari ; L. Ragone ; Rajesh Pahwa ; Joseph Jankovic ; Martha Nance ; Alan Freeman ; Ray. Watts ; F. Hentati

Source :

Parkinsonism & related disorders [ 1353-8020 ] ; 2008.

RBID : pubmed:17433753

Descripteurs français

Wicri :
- geographic : Tunisie, États-Unis.

English descriptors

KwdEn :
- Adult, Aged, Europe, Female, Founder Effect, Genotype, Haplotypes, Humans, Male, Middle Aged, Middle East, Mutation, Parkinson Disease (genetics), Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases (genetics), Tunisia, United States.
MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic : Europe, Middle East, Tunisia, United States.
- genetics : Parkinson Disease.
- Adult, Aged, Female, Founder Effect, Genotype, Haplotypes, Humans, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide.

Abstract

The Leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a disease susceptibility gene for Parkinson's disease (PD), with G2019 (6055G>A) being the most frequent mutation. This mutation was present in 42% (38/91) of Tunisian families and 2% (1/39) of US families we have studied. A founding haplotype was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries. The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation.

DOI: 10.1016/j.parkreldis.2007.02.001
PubMed: 17433753

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Le document en format XML

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<author><name sortKey="Warren, L" sort="Warren, L" uniqKey="Warren L" first="L" last="Warren">L. Warren</name>
<affiliation wicri:level="1"><nlm:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, NC 27709, USA. liling.warren@gsk.com</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Xue, Z" sort="Xue, Z" uniqKey="Xue Z" first="Z" last="Xue">Z. Xue</name>
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<author><name sortKey="Akkari, A" sort="Akkari, A" uniqKey="Akkari A" first="A" last="Akkari">A. Akkari</name>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name>
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<series><title level="j">Parkinsonism & related disorders</title>
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<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Middle East</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Tunisia</term>
<term>United States</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
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<term>Tunisia</term>
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<term>Aged</term>
<term>Female</term>
<term>Founder Effect</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Polymorphism, Single Nucleotide</term>
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<front><div type="abstract" xml:lang="en">The Leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a disease susceptibility gene for Parkinson's disease (PD), with G2019 (6055G>A) being the most frequent mutation. This mutation was present in 42% (38/91) of Tunisian families and 2% (1/39) of US families we have studied. A founding haplotype was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries. The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation.</div>
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<Abstract><AbstractText>The Leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a disease susceptibility gene for Parkinson's disease (PD), with G2019 (6055G>A) being the most frequent mutation. This mutation was present in 42% (38/91) of Tunisian families and 2% (1/39) of US families we have studied. A founding haplotype was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries. The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation.</AbstractText>
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A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.

A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki