Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
Identifieur interne : 003726 ( Istex/Corpus ); précédent : 003725; suivant : 003727Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
Auteurs : David R. Williams ; Alan M. Pittman ; Tamas Revesz ; Andrew J. Lees ; Rohan De SilvaSource :
- Movement Disorders [ 0885-3185 ] ; 2007-04-30.
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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
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DOI: 10.1002/mds.21393
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ISTEX:2F68005B33F10ABED0C443DA2F7E09FCB1603F69Le document en format XML
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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><istex><corpusName>wiley</corpusName><author><json:item><name>David R. 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Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="60"><doi origin="wiley" registered="yes">10.1002/mds.v22:6</doi><numberingGroup><numbering type="journalVolume" number="22">22</numbering><numbering type="journalIssue">6</numbering></numberingGroup><coverDate startDate="2007-04-30">30 April 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="260" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.21393</doi><idGroup><id type="unit" value="MDS21393"></id></idGroup><countGroup><count type="pageTotal" number="3"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2007 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2006-10-02"></event><event type="manuscriptAccepted" date="2006-12-18"></event><event type="firstOnline" date="2007-02-01"></event><event type="publishedOnlineFinalForm" date="2007-04-24"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2007-02-01"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText" date="2011-02-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">895</numbering><numbering type="pageLast">897</numbering></numberingGroup><correspondenceTo>Reta Lila Weston Institute for Neurological Studies, 1 Wakefield St, London WC1N 1PJ, United Kingdom</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21393.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="13"></count><count type="wordTotal" number="1767"></count></countGroup><titleGroup><title type="main" xml:lang="en">Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy</title><title type="short" xml:lang="en">Tau Variation in RS and PSP‐P</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2 #af3" corresponding="yes"><personName><givenNames>David R.</givenNames><familyName>Williams</familyName><degrees>PhD, FRACP</degrees></personName><contactDetails><email>drdavew@bigpond.com</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2 #af4"><personName><givenNames>Alan M.</givenNames><familyName>Pittman</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1 #af2 #af4"><personName><givenNames>Tamas</givenNames><familyName>Revesz</familyName><degrees>FRCPath</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Andrew J.</givenNames><familyName>Lees</familyName><degrees>MD, MRCP</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>Rohan</givenNames><familyName>de Silva</familyName><degrees>DPhil</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Sarah Koe PSP Research Centre, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Institute of Neurology, University College London, London, United Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">PSP</keyword><keyword xml:id="kwd2">Richardson's syndrome</keyword><keyword xml:id="kwd3">PSP‐Parkinsonism</keyword><keyword xml:id="kwd4">tau</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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 <i>MAPT</i>. 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 <i>MAPT</i>. 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 <i>MAPT</i> mutations in atypical PSP is not recommended. © 2007 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Tau Variation in RS and PSP‐P</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy</title></titleInfo><name type="personal"><namePart type="given">David R.</namePart><namePart type="family">Williams</namePart><namePart type="termsOfAddress">PhD, FRACP</namePart><affiliation>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><affiliation>Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom</affiliation><affiliation>Sarah Koe PSP Research Centre, London, United Kingdom</affiliation><description>Correspondence: Reta Lila Weston Institute for Neurological Studies, 1 Wakefield St, London WC1N 1PJ, United Kingdom</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alan M.</namePart><namePart type="family">Pittman</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom</affiliation><affiliation>Institute of Neurology, University College London, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tamas</namePart><namePart type="family">Revesz</namePart><namePart type="termsOfAddress">FRCPath</namePart><affiliation>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><affiliation>Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom</affiliation><affiliation>Institute of Neurology, University College London, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew J.</namePart><namePart type="family">Lees</namePart><namePart type="termsOfAddress">MD, MRCP</namePart><affiliation>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><affiliation>Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rohan</namePart><namePart type="family">de Silva</namePart><namePart type="termsOfAddress">DPhil</namePart><affiliation>Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom</affiliation><affiliation>Sarah Koe PSP Research Centre, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-04-30</dateIssued><dateCaptured encoding="w3cdtf">2006-10-02</dateCaptured><dateValid encoding="w3cdtf">2006-12-18</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">2</extent><extent unit="references">13</extent><extent unit="words">1767</extent></physicalDescription><abstract 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</abstract><subject lang="en"><genre>Keywords</genre><topic>PSP</topic><topic>Richardson's syndrome</topic><topic>PSP‐Parkinsonism</topic><topic>tau</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>895</start><end>897</end><total>3</total></extent></part></relatedItem><identifier type="istex">2F68005B33F10ABED0C443DA2F7E09FCB1603F69</identifier><identifier type="DOI">10.1002/mds.21393</identifier><identifier type="ArticleID">MDS21393</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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