MovDisordV3, Main, Curation, bibRecord, 003687

UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach

Identifieur interne : 003687 ( Main/Curation ); précédent : 003686; suivant : 003688

UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach

Auteurs : Daniel G. Healy ; Patrick M. Abou-Sleiman ; Niall Quinn ; Kourosh R. Ahmadi ; Tetsutaro Ozawa [Japon] ; Christoph Kamm [Allemagne] ; Ullrich Wullner ; Wolfgang H. Oertel [Allemagne] ; Katrin Burk [Allemagne] ; Erik Dupont [Danemark] ; Maria T. Pellecchia [Italie] ; Eduardo Tolosa [Espagne] ; Thomas Gasser [Allemagne] ; Janice L. Holton ; Tamas Revesz ; David B. Goldstein ; Andrew Lees (neurologue) [Royaume-Uni] ; Nicholas W. Wood

Source :

Movement Disorders [ 0885-3185 ] ; 2005-10.

RBID : ISTEX:9875802D9DA96C07707CF75686C804D845A7E9A9

Descripteurs français

Pascal (Inist)
- Atrophie multisystématisée, Haplotype, Marquage, Système nerveux pathologie, Voie abord.

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Expressed Sequence Tags (metabolism), Female, Gene Library, Genotype, Haplotype, Haplotypes (genetics), Humans, Linkage Disequilibrium, Male, Middle Aged, Multiple System Atrophy (genetics), Multiple System Atrophy (metabolism), Multiple system atrophy, Nervous system diseases, Polymorphism, Single Nucleotide (genetics), Surgical approach, Tagging, UCHL‐1, haplotype tagging, Ubiquitin Thiolesterase (genetics), haplotype diversity, multiple system atrophy.
MESH :
- chemical , genetics : Ubiquitin Thiolesterase.
- genetics : Haplotypes, Multiple System Atrophy, Polymorphism, Single Nucleotide.
- metabolism : Expressed Sequence Tags, Multiple System Atrophy.
- Adult, Aged, Aged, 80 and over, Female, Gene Library, Genotype, Humans, Linkage Disequilibrium, Male, Middle Aged.

Abstract

To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL‐1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL‐1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman‐probable or ‐definite MSA subjects and 1,536 controls, we did not detect a case–control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL‐1, which has been reported to be protective in Parkinson's disease. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/9875802D9DA96C07707CF75686C804D845A7E9A9/fulltext/pdf

DOI: 10.1002/mds.20575

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ISTEX:9875802D9DA96C07707CF75686C804D845A7E9A9

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No country items

Daniel G. Healy

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>

Patrick M. Abou-Sleiman

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>

Niall Quinn

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>

Kourosh R. Ahmadi

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>

Tetsutaro Ozawa

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>

<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Brain Research Institute, Niigata University</wicri:regionArea>
<wicri:noRegion>Niigata University</wicri:noRegion>
</affiliation>

Ullrich Wullner

<affiliation><wicri:noCountry code="subField">and Parkinson Competence Network</wicri:noCountry>
</affiliation>

Janice L. Holton

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>

Tamas Revesz

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>

David B. Goldstein

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>

Andrew Lees (neurologue)

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<country>Royaume-Uni</country>
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<affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute for Neurological Studies, University of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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<orgName type="university">Université de Londres</orgName>
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Nicholas W. Wood

<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Expressed Sequence Tags (metabolism)</term>
<term>Female</term>
<term>Gene Library</term>
<term>Genotype</term>
<term>Haplotype</term>
<term>Haplotypes (genetics)</term>
<term>Humans</term>
<term>Linkage Disequilibrium</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Multiple System Atrophy (genetics)</term>
<term>Multiple System Atrophy (metabolism)</term>
<term>Multiple system atrophy</term>
<term>Nervous system diseases</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Surgical approach</term>
<term>Tagging</term>
<term>UCHL‐1, haplotype tagging</term>
<term>Ubiquitin Thiolesterase (genetics)</term>
<term>haplotype diversity</term>
<term>multiple system atrophy</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin Thiolesterase</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Haplotypes</term>
<term>Multiple System Atrophy</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Expressed Sequence Tags</term>
<term>Multiple System Atrophy</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Gene Library</term>
<term>Genotype</term>
<term>Humans</term>
<term>Linkage Disequilibrium</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Atrophie multisystématisée</term>
<term>Haplotype</term>
<term>Marquage</term>
<term>Système nerveux pathologie</term>
<term>Voie abord</term>
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<front><div type="abstract" xml:lang="en">To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL‐1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL‐1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman‐probable or ‐definite MSA subjects and 1,536 controls, we did not detect a case–control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL‐1, which has been reported to be protective in Parkinson's disease. © 2005 Movement Disorder Society</div>
</front>
</TEI>
<double idat="0885-3185:2005:Healy D:uchl:gene:in"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">UCHL-1 gene in multiple system atrophy : A haplotype tagging approach</title>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Abou Sleiman, Patrick M" sort="Abou Sleiman, Patrick M" uniqKey="Abou Sleiman P" first="Patrick M." last="Abou-Sleiman">Patrick M. Abou-Sleiman</name>
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<s2>London</s2>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R." last="Ahmadi">Kourosh R. Ahmadi</name>
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<s2>London</s2>
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</inist:fA14>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Brain Research Institute, Niigata University</s1>
<s3>JPN</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<wicri:noRegion>Department of Neurology, Brain Research Institute, Niigata University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</s1>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
<wicri:noRegion>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn</s1>
<s3>DEU</s3>
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</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Bonn</wicri:noRegion>
<wicri:noRegion>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Parkinson Competence Network</s1>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Parkinson Competence Network</wicri:noRegion>
<wicri:noRegion>Parkinson Competence Network</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Neurology, Philipps University</s1>
<s2>Marburg</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
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<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name>
<affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Department of Neurology, University of Ulm</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
<orgName type="university">Université d'Ulm</orgName>
</affiliation>
</author>
<author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Aarhus University Hospital</s1>
<s2>Aarhus</s2>
<s3>DNK</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Danemark</country>
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</affiliation>
</author>
<author><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T." last="Pellecchia">Maria T. Pellecchia</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Neurological Sciences, University Federico II</s1>
<s2>Napoli</s2>
<s3>ITA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Napoli</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</s1>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
<wicri:noRegion>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
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<country>Royaume-Uni</country>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Biology, University College London, Gower Street</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
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</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
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<country>Royaume-Uni</country>
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</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Reta Lila Weston Institute for Neurological Studies, University of London</s1>
<s2>London</s2>
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</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
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</placeName>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>15 aut.</sZ>
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<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">UCHL-1 gene in multiple system atrophy : A haplotype tagging approach</title>
<author><name sortKey="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G." last="Healy">Daniel G. Healy</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Abou Sleiman, Patrick M" sort="Abou Sleiman, Patrick M" uniqKey="Abou Sleiman P" first="Patrick M." last="Abou-Sleiman">Patrick M. Abou-Sleiman</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R." last="Ahmadi">Kourosh R. Ahmadi</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Biology, University College London, Gower Street</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Brain Research Institute, Niigata University</s1>
<s3>JPN</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<wicri:noRegion>Department of Neurology, Brain Research Institute, Niigata University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</s1>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
<wicri:noRegion>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn</s1>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Bonn</wicri:noRegion>
<wicri:noRegion>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Parkinson Competence Network</s1>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Parkinson Competence Network</wicri:noRegion>
<wicri:noRegion>Parkinson Competence Network</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Neurology, Philipps University</s1>
<s2>Marburg</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name>
<affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Department of Neurology, University of Ulm</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
<orgName type="university">Université d'Ulm</orgName>
</affiliation>
</author>
<author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Aarhus University Hospital</s1>
<s2>Aarhus</s2>
<s3>DNK</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Danemark</country>
<wicri:noRegion>Aarhus</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T." last="Pellecchia">Maria T. Pellecchia</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Neurological Sciences, University Federico II</s1>
<s2>Napoli</s2>
<s3>ITA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Napoli</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</s1>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
<wicri:noRegion>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Biology, University College London, Gower Street</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Reta Lila Weston Institute for Neurological Studies, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</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>Multiple system atrophy</term>
<term>Nervous system diseases</term>
<term>Surgical approach</term>
<term>Tagging</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Atrophie multisystématisée</term>
<term>Haplotype</term>
<term>Marquage</term>
<term>Voie abord</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL-1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL-1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman-probable or -definite MSA subjects and 1,536 controls, we did not detect a case-control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL-1, which has been reported to be protective in Parkinson's disease.</div>
</front>
</TEI>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach</title>
<author><name sortKey="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G." last="Healy">Daniel G. Healy</name>
</author>
<author><name sortKey="Abou Leiman, Patrick M" sort="Abou Leiman, Patrick M" uniqKey="Abou Leiman P" first="Patrick M." last="Abou-Sleiman">Patrick M. Abou-Sleiman</name>
</author>
<author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name>
</author>
<author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R." last="Ahmadi">Kourosh R. Ahmadi</name>
</author>
<author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name>
</author>
<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
</author>
<author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name>
</author>
<author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name>
</author>
<author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name>
</author>
<author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name>
</author>
<author><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T." last="Pellecchia">Maria T. Pellecchia</name>
</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
</author>
<author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name>
</author>
<author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
</author>
<author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation><country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:9875802D9DA96C07707CF75686C804D845A7E9A9</idno>
<date when="2005" year="2005">2005</date>
<idno type="doi">10.1002/mds.20575</idno>
<idno type="url">https://api.istex.fr/document/9875802D9DA96C07707CF75686C804D845A7E9A9/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002711</idno>
<idno type="wicri:Area/Istex/Curation">002711</idno>
<idno type="wicri:Area/Istex/Checkpoint">002093</idno>
<idno type="wicri:doubleKey">0885-3185:2005:Healy D:uchl:gene:in</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:16007636</idno>
<idno type="wicri:Area/PubMed/Corpus">002F88</idno>
<idno type="wicri:Area/PubMed/Curation">002F88</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002F18</idno>
<idno type="wicri:Area/Ncbi/Merge">001324</idno>
<idno type="wicri:Area/Ncbi/Curation">001324</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001324</idno>
<idno type="wicri:doubleKey">0885-3185:2005:Healy D:uchl:gene:in</idno>
<idno type="wicri:Area/Main/Merge">004D70</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach</title>
<author><name sortKey="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G." last="Healy">Daniel G. Healy</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Abou Leiman, Patrick M" sort="Abou Leiman, Patrick M" uniqKey="Abou Leiman P" first="Patrick M." last="Abou-Sleiman">Patrick M. Abou-Sleiman</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R." last="Ahmadi">Kourosh R. Ahmadi</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Brain Research Institute, Niigata University</wicri:regionArea>
<wicri:noRegion>Niigata University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen</wicri:regionArea>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name>
<affiliation><wicri:noCountry code="subField">and Parkinson Competence Network</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name>
<affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
<orgName type="university">Université d'Ulm</orgName>
</affiliation>
</author>
<author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name>
<affiliation wicri:level="1"><country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, Aarhus University Hospital, Aarhus</wicri:regionArea>
<wicri:noRegion>Aarhus</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T." last="Pellecchia">Maria T. Pellecchia</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea>
<wicri:noRegion>Napoli</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen</wicri:regionArea>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute for Neurological Studies, University of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2005-10">2005-10</date>
<biblScope unit="vol">20</biblScope>
<biblScope unit="issue">10</biblScope>
<biblScope unit="page" from="1338">1338</biblScope>
<biblScope unit="page" to="1343">1343</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">9875802D9DA96C07707CF75686C804D845A7E9A9</idno>
<idno type="DOI">10.1002/mds.20575</idno>
<idno type="ArticleID">MDS20575</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Expressed Sequence Tags (metabolism)</term>
<term>Female</term>
<term>Gene Library</term>
<term>Genotype</term>
<term>Haplotypes (genetics)</term>
<term>Humans</term>
<term>Linkage Disequilibrium</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Multiple System Atrophy (genetics)</term>
<term>Multiple System Atrophy (metabolism)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>UCHL‐1, haplotype tagging</term>
<term>Ubiquitin Thiolesterase (genetics)</term>
<term>haplotype diversity</term>
<term>multiple system atrophy</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin Thiolesterase</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Haplotypes</term>
<term>Multiple System Atrophy</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Expressed Sequence Tags</term>
<term>Multiple System Atrophy</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Gene Library</term>
<term>Genotype</term>
<term>Humans</term>
<term>Linkage Disequilibrium</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL‐1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL‐1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman‐probable or ‐definite MSA subjects and 1,536 controls, we did not detect a case–control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL‐1, which has been reported to be protective in Parkinson's disease. © 2005 Movement Disorder Society</div>
</front>
</TEI>
</ISTEX>
</double>
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	Movement Disorders (revue)
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Movement Disorders (revue)

UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach

UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach

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