MovDisordV3, Main, Merge, bibRecord, 005176

Taiwanese cases of SCA2 are derived from a single founder

Identifieur interne : 005176 ( Main/Merge ); précédent : 005175; suivant : 005177

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.

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

to stream PascalFrancis, to step Corpus: 001C24
to stream PascalFrancis, to step Curation: 001097
to stream PascalFrancis, to step Checkpoint: 001C98

Links to Exploration step

Pascal:06-0191535

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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="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>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</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>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<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>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
<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>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<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>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
<s3>TWN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<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>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hsu, Jin Tian" sort="Hsu, Jin Tian" uniqKey="Hsu J" first="Jin-Tian" last="Hsu">Jin-Tian Hsu</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, Kaohsiung Medical University, Chung-Ho Memorial Hospital</s1>
<s2>Kaohsiung</s2>
<s3>TWN</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Kaohsiung</wicri:noRegion>
</affiliation>
</author>
<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>
</placeName>
</affiliation>
</author>
<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>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0191535</idno>
<date when="2005">2005</date>
<idno type="stanalyst">PASCAL 06-0191535 INIST</idno>
<idno type="RBID">Pascal:06-0191535</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001C24</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001097</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001C98</idno>
<idno type="wicri:doubleKey">0885-3185:2005:Momeni P:taiwanese:cases:of</idno>
<idno type="wicri:Area/Main/Merge">005176</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="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>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</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>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<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>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
<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>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<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>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
<s3>TWN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<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>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hsu, Jin Tian" sort="Hsu, Jin Tian" uniqKey="Hsu J" first="Jin-Tian" last="Hsu">Jin-Tian Hsu</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, Kaohsiung Medical University, Chung-Ho Memorial Hospital</s1>
<s2>Kaohsiung</s2>
<s3>TWN</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Kaohsiung</wicri:noRegion>
</affiliation>
</author>
<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>
</placeName>
</affiliation>
</author>
<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>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2005">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Haplotype</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
<term>Phenotype</term>
<term>Spinocerebellar ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Ataxie spinocérébelleuse</term>
<term>Parkinsonisme</term>
<term>Phénotype</term>
<term>Haplotype</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>
<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>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005176 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 005176 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     Pascal:06-0191535
   |texte=   Taiwanese cases of SCA2 are derived from a single founder
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

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...)

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