MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001658

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

Identifieur interne : 001658 ( PascalFrancis/Checkpoint ); précédent : 001657; suivant : 001659

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.

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.

Affiliations:

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Le document en format XML

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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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<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17D</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fN21><s1>176</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<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>

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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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