MovDisordV3, Main, Exploration, bibRecord, 002E28

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

Identifieur interne : 002E28 ( Main/Exploration ); précédent : 002E27; suivant : 002E29

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

Auteurs : David R. Williams [Royaume-Uni] ; Alan M. Pittman [Royaume-Uni] ; Tamas Revesz [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Rohan De Silva [Royaume-Uni]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-04-30.

RBID : ISTEX:2F68005B33F10ABED0C443DA2F7E09FCB1603F69

Descripteurs français

Pascal (Inist)
- Locus, Parkinsonisme, Système nerveux pathologie.

English descriptors

KwdEn :
- DNA (genetics), European Continental Ancestry Group, Female, Genetic Variation, Humans, Locus, London, Male, Nervous system diseases, PSP, PSP‐Parkinsonism, Parkinsonism, Reference Values, Richardson's syndrome, Supranuclear Palsy, Progressive (genetics), tau, tau Proteins (genetics).
MESH :
- chemical , genetics : DNA, tau Proteins.
- geographic : London.
- genetics : Supranuclear Palsy, Progressive.
- European Continental Ancestry Group, Female, Genetic Variation, Humans, Male, Reference Values.

Abstract

A number of different clinical syndromes have been associated with progressive supranuclear (PSP) tau pathology. Previous reports have suggested that atypical clinical phenotypes of PSP occur in familial disease, and might be associated with mutations of MAPT. We examined the association of PSP‐susceptibility tau haplotypes in pathologically diagnosed PSP, separated according to initial clinical features into classic PSP and atypical PSP groups (PSP‐Parkinsonism, PSP‐P). These patients were screened for mutations in exons 1 and 10 of MAPT. No mutations were found in 75 patients (21 PSP‐P), and H1c was associated with both Richardson's syndrome and PSP‐P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/2F68005B33F10ABED0C443DA2F7E09FCB1603F69/fulltext/pdf

DOI: 10.1002/mds.21393

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy</title>
<author><name sortKey="Williams, David R" sort="Williams, David R" uniqKey="Williams D" first="David R." last="Williams">David R. Williams</name>
</author>
<author><name sortKey="Pittman, Alan M" sort="Pittman, Alan M" uniqKey="Pittman A" first="Alan M." last="Pittman">Alan M. Pittman</name>
</author>
<author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</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="De Silva, Rohan" sort="De Silva, Rohan" uniqKey="De Silva R" first="Rohan" last="De Silva">Rohan De Silva</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:2F68005B33F10ABED0C443DA2F7E09FCB1603F69</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21393</idno>
<idno type="url">https://api.istex.fr/document/2F68005B33F10ABED0C443DA2F7E09FCB1603F69/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003726</idno>
<idno type="wicri:Area/Istex/Curation">003726</idno>
<idno type="wicri:Area/Istex/Checkpoint">001936</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Williams D:genetic:variation:at</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17274033</idno>
<idno type="wicri:Area/PubMed/Corpus">002851</idno>
<idno type="wicri:Area/PubMed/Curation">002851</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002800</idno>
<idno type="wicri:Area/Ncbi/Merge">001A88</idno>
<idno type="wicri:Area/Ncbi/Curation">001A88</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001A88</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Williams D:genetic:variation:at</idno>
<idno type="wicri:Area/Main/Merge">003D50</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:07-0263075</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001682</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001639</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001658</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Williams D:genetic:variation:at</idno>
<idno type="wicri:Area/Main/Merge">004248</idno>
<idno type="wicri:Area/Main/Curation">002E28</idno>
<idno type="wicri:Area/Main/Exploration">002E28</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy</title>
<author><name sortKey="Williams, David R" sort="Williams, David R" uniqKey="Williams D" first="David R." last="Williams">David R. Williams</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Sarah Koe PSP Research Centre, London</wicri:regionArea>
<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="Pittman, Alan M" sort="Pittman, Alan M" uniqKey="Pittman A" first="Alan M." last="Pittman">Alan M. Pittman</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Neurology, University College London, London</wicri:regionArea>
<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"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Neurology, University College London, London</wicri:regionArea>
<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"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea>
<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="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, University College London, London</wicri:regionArea>
<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>
</author>
<author><name sortKey="De Silva, Rohan" sort="De Silva, Rohan" uniqKey="De Silva R" first="Rohan" last="De Silva">Rohan De Silva</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Sarah Koe PSP Research Centre, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</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="2007-04-30">2007-04-30</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">6</biblScope>
<biblScope unit="page" from="895">895</biblScope>
<biblScope unit="page" to="897">897</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">2F68005B33F10ABED0C443DA2F7E09FCB1603F69</idno>
<idno type="DOI">10.1002/mds.21393</idno>
<idno type="ArticleID">MDS21393</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA (genetics)</term>
<term>European Continental Ancestry Group</term>
<term>Female</term>
<term>Genetic Variation</term>
<term>Humans</term>
<term>Locus</term>
<term>London</term>
<term>Male</term>
<term>Nervous system diseases</term>
<term>PSP</term>
<term>PSP‐Parkinsonism</term>
<term>Parkinsonism</term>
<term>Reference Values</term>
<term>Richardson's syndrome</term>
<term>Supranuclear Palsy, Progressive (genetics)</term>
<term>tau</term>
<term>tau Proteins (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term>
<term>tau Proteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>London</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Supranuclear Palsy, Progressive</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>European Continental Ancestry Group</term>
<term>Female</term>
<term>Genetic Variation</term>
<term>Humans</term>
<term>Male</term>
<term>Reference Values</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Locus</term>
<term>Parkinsonisme</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A number of different clinical syndromes have been associated with progressive supranuclear (PSP) tau pathology. Previous reports have suggested that atypical clinical phenotypes of PSP occur in familial disease, and might be associated with mutations of MAPT. We examined the association of PSP‐susceptibility tau haplotypes in pathologically diagnosed PSP, separated according to initial clinical features into classic PSP and atypical PSP groups (PSP‐Parkinsonism, PSP‐P). These patients were screened for mutations in exons 1 and 10 of MAPT. No mutations were found in 75 patients (21 PSP‐P), and H1c was associated with both Richardson's syndrome and PSP‐P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended. © 2007 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
<orgName><li>National Hospital for Neurology and Neurosurgery</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Williams, David R" sort="Williams, David R" uniqKey="Williams D" first="David R." last="Williams">David R. Williams</name>
</region>
<name sortKey="De Silva, Rohan" sort="De Silva, Rohan" uniqKey="De Silva R" first="Rohan" last="De Silva">Rohan De Silva</name>
<name sortKey="De Silva, Rohan" sort="De Silva, Rohan" uniqKey="De Silva R" first="Rohan" last="De Silva">Rohan De Silva</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Pittman, Alan M" sort="Pittman, Alan M" uniqKey="Pittman A" first="Alan M." last="Pittman">Alan M. Pittman</name>
<name sortKey="Pittman, Alan M" sort="Pittman, Alan M" uniqKey="Pittman A" first="Alan M." last="Pittman">Alan M. Pittman</name>
<name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
<name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
<name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
<name sortKey="Williams, David R" sort="Williams, David R" uniqKey="Williams D" first="David R." last="Williams">David R. Williams</name>
<name sortKey="Williams, David R" sort="Williams, David R" uniqKey="Williams D" first="David R." last="Williams">David R. Williams</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

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

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002E28 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002E28 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:2F68005B33F10ABED0C443DA2F7E09FCB1603F69
   |texte=   Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
}}

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)

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

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)
	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.