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

Identifieur interne : 001A88 ( Ncbi/Curation ); précédent : 001A87; suivant : 001A89

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

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

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17274033

English descriptors

KwdEn :
- DNA (genetics), European Continental Ancestry Group, Female, Genetic Variation, Humans, London, Male, Reference Values, Supranuclear Palsy, Progressive (genetics), 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.

DOI: 10.1002/mds.21393
PubMed: 17274033

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pubmed:17274033

Le document en format XML

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<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"><nlm:affiliation>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom. drdavew@bigpond.com</nlm:affiliation>
<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>
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<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 J. Lees</name>
</author>
<author><name sortKey="De Silva, Rohan" sort="De Silva, Rohan" uniqKey="De Silva R" first="Rohan" last="De Silva">Rohan De Silva</name>
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<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21393</idno>
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<sourceDesc><biblStruct><analytic><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>
<affiliation wicri:level="3"><nlm:affiliation>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom. drdavew@bigpond.com</nlm:affiliation>
<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>
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<author><name sortKey="Pittman, Alan M" sort="Pittman, Alan M" uniqKey="Pittman A" first="Alan M" last="Pittman">Alan M. Pittman</name>
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<author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
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<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name>
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<author><name sortKey="De Silva, Rohan" sort="De Silva, Rohan" uniqKey="De Silva R" first="Rohan" last="De Silva">Rohan De Silva</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<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>London</term>
<term>Male</term>
<term>Reference Values</term>
<term>Supranuclear Palsy, Progressive (genetics)</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>
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</textClass>
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</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.</div>
</front>
</TEI>
</record>

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	Movement Disorders (revue)
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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 :

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

Pour générer des pages wiki