MovDisordV3, PascalFrancis, Curation, bibRecord, 001639

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

Identifieur interne : 001639 ( PascalFrancis/Curation ); précédent : 001638; suivant : 001640

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 J. Lees [Royaume-Uni] ; Rohan De Silva [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0263075

Descripteurs français

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

English descriptors

KwdEn :
- Locus, Nervous system diseases, Parkinsonism.

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.

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A08	`01`	`1`	`ENG`	`@1 Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy`
A11	`01`	`1`		`@1 WILLIAMS (David R.)`
A11	`02`	`1`		`@1 PITTMAN (Alan M.)`
A11	`03`	`1`		`@1 REVESZ (Tamas)`
A11	`04`	`1`		`@1 LEES (Andrew J.)`
A11	`05`	`1`		`@1 DE SILVA (Rohan)`
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A14	`02`			`@1 Reta Lila Weston Institute of Neurological Studies, University College London @2 London @3 GBR @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut.`
A14	`03`			`@1 Sarah Koe PSP Research Centre @2 London @3 GBR @Z 1 aut. @Z 5 aut.`
A14	`04`			`@1 Institute of Neurology, University College London @2 London @3 GBR @Z 2 aut. @Z 3 aut.`
A20				`@1 895-897`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000149445250260`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 13 ref.`
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A64	`01`	`1`		`@0 Movement disorders`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17D`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Locus @5 09`
C03	`03`	`X`	`ENG`	`@0 Locus @5 09`
C03	`03`	`X`	`SPA`	`@0 Locus @5 09`
N21				`@1 176`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:07-0263075

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy</title>
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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>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Reta Lila Weston Institute of Neurological Studies, University College London</s1>
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<series><title level="j" type="main">Movement disorders</title>
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<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>
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	Movement Disorders (revue)
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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

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