Clinical and pathological characteristics of patients with Leucine‐rich repeat kinase‐2 mutations
Identifieur interne : 001082 ( Main/Corpus ); précédent : 001081; suivant : 001083Clinical and pathological characteristics of patients with Leucine‐rich repeat kinase‐2 mutations
Auteurs : Jason P. Covy ; Wuxing Yuan ; Elisa A. Waxman ; Howard I. Hurtig ; Vivianna M. Van Deerlin ; Benoit I. GiassonSource :
- Movement Disorders [ 0885-3185 ] ; 2009-01-15.
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Abstract
Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle‐predominant dementia. α‐Synuclein‐containing pathological inclusions in these patients also were highly phosphorylated at Ser‐129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP‐43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22096
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Covy</name><affiliation><mods:affiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</mods:affiliation></affiliation></author><author><name sortKey="Yuan, Wuxing" sort="Yuan, Wuxing" uniqKey="Yuan W" first="Wuxing" last="Yuan">Wuxing Yuan</name><affiliation><mods:affiliation>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</mods:affiliation></affiliation></author><author><name sortKey="Waxman, Elisa A" sort="Waxman, Elisa A" uniqKey="Waxman E" first="Elisa A." last="Waxman">Elisa A. Waxman</name><affiliation><mods:affiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</mods:affiliation></affiliation></author><author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I." last="Hurtig">Howard I. 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Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle‐predominant dementia. α‐Synuclein‐containing pathological inclusions in these patients also were highly phosphorylated at Ser‐129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP‐43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations. © 2008 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Jason P. Covy BS</name><affiliations><json:string>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</json:string></affiliations></json:item><json:item><name>Wuxing Yuan MS</name><affiliations><json:string>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</json:string></affiliations></json:item><json:item><name>Elisa A. Waxman PhD</name><affiliations><json:string>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</json:string></affiliations></json:item><json:item><name>Howard I. Hurtig MD</name><affiliations><json:string>Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</json:string></affiliations></json:item><json:item><name>Vivianna M. Van Deerlin MD, PhD</name><affiliations><json:string>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</json:string></affiliations></json:item><json:item><name>Benoit I. 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One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle‐predominant dementia. α‐Synuclein‐containing pathological inclusions in these patients also were highly phosphorylated at Ser‐129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP‐43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. 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One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle‐predominant dementia. α‐Synuclein‐containing pathological inclusions in these patients also were highly phosphorylated at Ser‐129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP‐43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations. © 2008 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease/Parkinsonism</term></item><item><term>Genetics</term></item><item><term>Parkinson's disease with dementia</term></item><item><term>Leucine‐rich repeat kinase‐2 (LRRK2)</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2007-11-27">Received</change><change when="2008-03-31">Registration</change><change when="2009-01-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/261B0CC4371557CBFD4F97C60D73707304A4482B/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. 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type="manuscriptAccepted" date="2008-03-31"></event><event type="firstOnline" date="2008-11-12"></event><event type="publishedOnlineFinalForm" date="2009-01-23"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2008-11-12"></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">32</numbering><numbering type="pageLast">39</numbering></numberingGroup><correspondenceTo>Department of Pharmacology, University of Pennsylvania School of Medicine, 3620 Hamilton Walk, 125 John Morgan Building, Philadelphia, PA 19104‐6084</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22096.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="4"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="47"></count><count type="wordTotal" number="4431"></count></countGroup><titleGroup><title type="main" xml:lang="en">Clinical and pathological characteristics of patients with Leucine‐rich repeat kinase‐2 mutations<link href="#fn1"></link></title><title type="short" xml:lang="en">Pathological Features of LRRK2 Mutations</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Jason P.</givenNames><familyName>Covy</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Wuxing</givenNames><familyName>Yuan</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Elisa A.</givenNames><familyName>Waxman</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Howard I.</givenNames><familyName>Hurtig</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Vivianna M.</givenNames><familyName>Van Deerlin</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Benoit I.</givenNames><familyName>Giasson</familyName><degrees>PhD</degrees></personName><contactDetails><email>giassonb@mail.med.upenn.edu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease/Parkinsonism</keyword><keyword xml:id="kwd2">Genetics</keyword><keyword xml:id="kwd3">Parkinson's disease with dementia</keyword><keyword xml:id="kwd4">Leucine‐rich repeat kinase‐2 (LRRK2)</keyword></keywordGroup><fundingInfo><fundingAgency>National Institute on Aging</fundingAgency><fundingNumber>AG09215</fundingNumber><fundingNumber>AG17586</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Institute of Neurological Disorders and Stroke</fundingAgency><fundingNumber>NS053488</fundingNumber></fundingInfo><fundingInfo><fundingAgency>The Ellison Medical Foundation</fundingAgency><fundingNumber>AG‐NS‐0331‐06</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle‐predominant dementia. α‐Synuclein‐containing pathological inclusions in these patients also were highly phosphorylated at Ser‐129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP‐43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations. © 2008 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: None reported.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Clinical and pathological characteristics of patients with Leucine‐rich repeat kinase‐2 mutations</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Pathological Features of LRRK2 Mutations</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Clinical and pathological characteristics of patients with Leucine‐rich repeat kinase‐2 mutations</title></titleInfo><name type="personal"><namePart type="given">Jason P.</namePart><namePart type="family">Covy</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wuxing</namePart><namePart type="family">Yuan</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elisa A.</namePart><namePart type="family">Waxman</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Howard I.</namePart><namePart type="family">Hurtig</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vivianna M.</namePart><namePart type="family">Van Deerlin</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Benoit I.</namePart><namePart type="family">Giasson</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania, USA</affiliation><description>Correspondence: Department of Pharmacology, University of Pennsylvania School of Medicine, 3620 Hamilton Walk, 125 John Morgan Building, Philadelphia, PA 19104‐6084</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2009-01-15</dateIssued><dateCaptured encoding="w3cdtf">2007-11-27</dateCaptured><dateValid encoding="w3cdtf">2008-03-31</dateValid><copyrightDate encoding="w3cdtf">2009</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="figures">4</extent><extent unit="references">47</extent><extent unit="words">4431</extent></physicalDescription><abstract lang="en">Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle‐predominant dementia. α‐Synuclein‐containing pathological inclusions in these patients also were highly phosphorylated at Ser‐129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP‐43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations. © 2008 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: None reported.</note><note type="funding">National Institute on Aging - No. AG09215; No. AG17586; </note><note type="funding">National Institute of Neurological Disorders and Stroke - No. NS053488; </note><note type="funding">The Ellison Medical Foundation - No. AG‐NS‐0331‐06; </note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease/Parkinsonism</topic><topic>Genetics</topic><topic>Parkinson's disease with dementia</topic><topic>Leucine‐rich repeat kinase‐2 (LRRK2)</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</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>2009</date><detail type="volume"><caption>vol.</caption><number>24</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>32</start><end>39</end><total>8</total></extent></part></relatedItem><identifier type="istex">261B0CC4371557CBFD4F97C60D73707304A4482B</identifier><identifier type="DOI">10.1002/mds.22096</identifier><identifier type="ArticleID">MDS22096</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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