Movement Disorders (revue)

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Taiwanese cases of SCA2 are derived from a single founder

Identifieur interne : 004D96 ( Main/Merge ); précédent : 004D95; suivant : 004D97

Taiwanese cases of SCA2 are derived from a single founder

Auteurs : Parastoo Momeni [États-Unis] ; Chin-Song Lu [Taïwan] ; Yah-Huei Wu Chou [Taïwan] ; Hsiu-Chen Chang [Taïwan] ; Rou-Shayn Chen [Taïwan] ; Chiung-Chu Chen [Taïwan] ; Jin-Tian Hsu [Taïwan] ; Andrew Singleton [États-Unis] ; John Hardy [États-Unis]

Source :

RBID : ISTEX:3407D290292E763B9E8E498F1E075FA91318001A

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English descriptors

Abstract

We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients. © 2005 Movement Disorder Society

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DOI: 10.1002/mds.20638

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ISTEX:3407D290292E763B9E8E498F1E075FA91318001A

Le document en format XML

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<name sortKey="Chou, Yah Huei Wu" sort="Chou, Yah Huei Wu" uniqKey="Chou Y" first="Yah-Huei Wu" last="Chou">Yah-Huei Wu Chou</name>
</author>
<author>
<name sortKey="Chang, Hsiu Chen" sort="Chang, Hsiu Chen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name>
</author>
<author>
<name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
</author>
<author>
<name sortKey="Chen, Chiung Chu" sort="Chen, Chiung Chu" uniqKey="Chen C" first="Chiung-Chu" last="Chen">Chiung-Chu Chen</name>
</author>
<author>
<name sortKey="Hsu, Jin Tian" sort="Hsu, Jin Tian" uniqKey="Hsu J" first="Jin-Tian" last="Hsu">Jin-Tian Hsu</name>
</author>
<author>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</author>
<author>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PubMed</idno>
<date when="2005">2005</date>
<idno type="doi">10.1002/mds.20638</idno>
<idno type="RBID">pubmed:16078202</idno>
<idno type="pmid">16078202</idno>
<idno type="wicri:Area/PubMed/Corpus">002F57</idno>
<idno type="wicri:Area/PubMed/Curation">002F57</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002F45</idno>
<idno type="wicri:Area/Ncbi/Merge">001355</idno>
<idno type="wicri:Area/Ncbi/Curation">001355</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001355</idno>
<idno type="wicri:doubleKey">0885-3185:2005:Momeni P:taiwanese:cases:of</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en">Taiwanese cases of SCA2 are derived from a single founder.</title>
<author>
<name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name>
<affiliation wicri:level="1">
<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA. momeni@mail.nih.gov</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952</wicri:regionArea>
<wicri:noRegion>Maryland 20952</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
</author>
<author>
<name sortKey="Chou, Yah Huei Wu" sort="Chou, Yah Huei Wu" uniqKey="Chou Y" first="Yah-Huei Wu" last="Chou">Yah-Huei Wu Chou</name>
</author>
<author>
<name sortKey="Chang, Hsiu Chen" sort="Chang, Hsiu Chen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name>
</author>
<author>
<name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
</author>
<author>
<name sortKey="Chen, Chiung Chu" sort="Chen, Chiung Chu" uniqKey="Chen C" first="Chiung-Chu" last="Chen">Chiung-Chu Chen</name>
</author>
<author>
<name sortKey="Hsu, Jin Tian" sort="Hsu, Jin Tian" uniqKey="Hsu J" first="Jin-Tian" last="Hsu">Jin-Tian Hsu</name>
</author>
<author>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</author>
<author>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
</author>
</analytic>
<series>
<title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint>
<date when="2005" type="published">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Adult</term>
<term>Aged</term>
<term>Ataxia (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Taiwan (ethnology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en">
<term>Taiwan</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Ataxia</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr">
<term>Taïwan</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients.</div>
</front>
</TEI>
</PubMed>
</double>
</record>

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