MovDisordV3, Main, Exploration, bibRecord, 003713

Taiwanese cases of SCA2 are derived from a single founder

Identifieur interne : 003713 ( Main/Exploration ); précédent : 003712; suivant : 003714

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 :

Movement Disorders [ 0885-3185 ] ; 2005-12.

RBID : ISTEX:3407D290292E763B9E8E498F1E075FA91318001A

Descripteurs français

Pascal (Inist)
- Ataxie spinocérébelleuse, Haplotype, Parkinsonisme, Phénotype, Système nerveux pathologie.
Wicri :
- geographic : Taïwan.

English descriptors

KwdEn :
- Adult, Aged, Ataxia (genetics), DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Haplotype, Haplotypes, Humans, Male, Middle Aged, Nerve Tissue Proteins (genetics), Nervous system diseases, Parkinson Disease (genetics), Parkinsonism, Phenotype, Polymorphism, Single Nucleotide (genetics), SCA2, Spinocerebellar ataxia, Taiwan (ethnology), ataxic phenotype, common founder, haplotype, parkinsonism.
MESH :
- chemical , genetics : Nerve Tissue Proteins.
- geographic , ethnology : Taiwan.
- genetics : Ataxia, Parkinson Disease, Polymorphism, Single Nucleotide.
- Adult, Aged, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Haplotypes, Humans, Male, Middle Aged.

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

Url:

https://api.istex.fr/document/3407D290292E763B9E8E498F1E075FA91318001A/fulltext/pdf

DOI: 10.1002/mds.20638

Affiliations:

Le document en format XML

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<author><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
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<author><name sortKey="Chou, Yah Uei Wu" sort="Chou, Yah Uei Wu" uniqKey="Chou Y" first="Yah-Huei Wu" last="Chou">Yah-Huei Wu Chou</name>
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<author><name sortKey="Chang, Hsiu Hen" sort="Chang, Hsiu Hen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name>
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<author><name sortKey="Chen, Rou Hayn" sort="Chen, Rou Hayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
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<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Haplotype</term>
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<term>ataxic phenotype</term>
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<term>haplotype</term>
<term>parkinsonism</term>
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<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. © 2005 Movement Disorder Society</div>
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<name sortKey="Chen, Rou Hayn" sort="Chen, Rou Hayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
<name sortKey="Chen, Rou Hayn" sort="Chen, Rou Hayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
<name sortKey="Chou, Yah Uei Wu" sort="Chou, Yah Uei Wu" uniqKey="Chou Y" first="Yah-Huei Wu" last="Chou">Yah-Huei Wu Chou</name>
<name sortKey="Chou, Yah Uei Wu" sort="Chou, Yah Uei Wu" uniqKey="Chou Y" first="Yah-Huei Wu" last="Chou">Yah-Huei Wu Chou</name>
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<name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
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Movement Disorders (revue)

Taiwanese cases of SCA2 are derived from a single founder

Taiwanese cases of SCA2 are derived from a single founder

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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