MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001C98

Taiwanese cases of SCA2 are derived from a single founder

Identifieur interne : 001C98 ( PascalFrancis/Checkpoint ); précédent : 001C97; suivant : 001C99

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.

RBID : Pascal:06-0191535

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Ataxie spinocérébelleuse, Parkinsonisme, Phénotype, Haplotype.

English descriptors

KwdEn :
- Haplotype, Nervous system diseases, Parkinsonism, Phenotype, Spinocerebellar ataxia.

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.

Affiliations:

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Le document en format XML

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<s2>Bethesda, Maryland</s2>
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<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
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<s2>Taipei</s2>
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<author><name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name>
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<author><name sortKey="Chen, Chiung Chu" sort="Chen, Chiung Chu" uniqKey="Chen C" first="Chiung-Chu" last="Chen">Chiung-Chu Chen</name>
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<author><name sortKey="Hsu, Jin Tian" sort="Hsu, Jin Tian" uniqKey="Hsu J" first="Jin-Tian" last="Hsu">Jin-Tian Hsu</name>
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<s2>Bethesda, Maryland</s2>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Taiwanese cases of SCA2 are derived from a single founder</title>
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<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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<placeName><region type="state">Maryland</region>
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<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
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<s2>Taipei</s2>
<s3>TWN</s3>
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<sZ>5 aut.</sZ>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Neuroscience Research Center, Chang Gung Memorial Hospital</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>2 aut.</sZ>
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<wicri:noRegion>Taipei</wicri:noRegion>
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<author><name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name>
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<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
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<wicri:noRegion>Taipei</wicri:noRegion>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>3 aut.</sZ>
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<wicri:noRegion>Taipei</wicri:noRegion>
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<author><name sortKey="Chang, Hsiu Chen" sort="Chang, Hsiu Chen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital</s1>
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<sZ>2 aut.</sZ>
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<author><name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital</s1>
<s2>Taipei</s2>
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<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Neuroscience Research Center, Chang Gung Memorial Hospital</s1>
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<wicri:noRegion>Taipei</wicri:noRegion>
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<author><name sortKey="Chen, Chiung Chu" sort="Chen, Chiung Chu" uniqKey="Chen C" first="Chiung-Chu" last="Chen">Chiung-Chu Chen</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<wicri:noRegion>Taipei</wicri:noRegion>
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<author><name sortKey="Hsu, Jin Tian" sort="Hsu, Jin Tian" uniqKey="Hsu J" first="Jin-Tian" last="Hsu">Jin-Tian Hsu</name>
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<s3>TWN</s3>
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<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Maryland</region>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
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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.</div>
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</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Haplotype</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Haplotype</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Haplotipo</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fN21><s1>114</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>Taïwan</li>
<li>États-Unis</li>
</country>
<region><li>Maryland</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Maryland"><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name>
</region>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</country>
<country name="Taïwan"><noRegion><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
</noRegion>
<name sortKey="Chang, Hsiu Chen" sort="Chang, Hsiu Chen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name>
<name sortKey="Chen, Chiung Chu" sort="Chen, Chiung Chu" uniqKey="Chen C" first="Chiung-Chu" last="Chen">Chiung-Chu Chen</name>
<name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
<name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
<name sortKey="Hsu, Jin Tian" sort="Hsu, Jin Tian" uniqKey="Hsu J" first="Jin-Tian" last="Hsu">Jin-Tian Hsu</name>
<name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
<name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name>
<name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name>
</country>
</tree>
</affiliations>
</record>

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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

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