Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation
Identifieur interne : 002495 ( Main/Corpus ); précédent : 002494; suivant : 002496Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation
Auteurs : Maria Teresa Giordana ; Carla D'Agostino ; Giovanni Albani ; Alessandro Mauro ; Alessio Di Fonzo ; Angelo Antonini ; Vincenzo BonifatiSource :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
English descriptors
Abstract
Leucine‐Rich Repeat Kinase 2 (LRRK2) gene mutations are the most common known cause of Parkinson's disease (PD), but neuropathological studies are available on very few patients with LRRK2 mutation. The reported findings range from Lewy body–positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin‐positive inclusions, and tau‐positive–only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different LRRK2 mutation, Ile1371Val, and showing typical ubiquitin‐ and α‐synuclein–positive Lewy body pathology. These findings support the concept that the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21281
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ISTEX:47EF05B0CBA17E6B2C977E9638ED1D4FA35F3830Le document en format XML
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Italy</mods:affiliation></affiliation></author><author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name><affiliation><mods:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><affiliation><mods:affiliation>Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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The reported findings range from Lewy body–positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin‐positive inclusions, and tau‐positive–only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different LRRK2 mutation, Ile1371Val, and showing typical ubiquitin‐ and α‐synuclein–positive Lewy body pathology. These findings support the concept that the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Maria Teresa Giordana MD, PhD</name><affiliations><json:string>Department of Neuroscience, University of Torino, Torino, Italy</json:string></affiliations></json:item><json:item><name>Carla D'Agostino PhD</name><affiliations><json:string>Department of Neuroscience, University of Torino, Torino, Italy</json:string></affiliations></json:item><json:item><name>Giovanni Albani MD</name><affiliations><json:string>Department of Neurology, Istituto Auxologico Italiano, Piancavallo, Verbania, Italy</json:string></affiliations></json:item><json:item><name>Alessandro Mauro MD</name><affiliations><json:string>Department of Neuroscience, University of Torino, Torino, Italy</json:string><json:string>Department of Neurology, Istituto Auxologico Italiano, Piancavallo, Verbania, Italy</json:string></affiliations></json:item><json:item><name>Alessio Di Fonzo MD</name><affiliations><json:string>Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands</json:string><json:string>Department of Neurological Sciences, University of Milan and Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy</json:string></affiliations></json:item><json:item><name>Angelo Antonini MD</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</json:string></affiliations></json:item><json:item><name>Vincenzo Bonifati MD, PhD</name><affiliations><json:string>Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Ile1371Val mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neuropathology</value></json:item></subject><articleId><json:string>MDS21281</json:string></articleId><language><json:string>eng</json:string></language><abstract>Leucine‐Rich Repeat Kinase 2 (LRRK2) gene mutations are the most common known cause of Parkinson's disease (PD), but neuropathological studies are available on very few patients with LRRK2 mutation. The reported findings range from Lewy body–positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin‐positive inclusions, and tau‐positive–only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different LRRK2 mutation, Ile1371Val, and showing typical ubiquitin‐ and α‐synuclein–positive Lewy body pathology. 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Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2"><i>LRRK2</i></keyword><keyword xml:id="kwd3">Ile1371Val mutation</keyword><keyword xml:id="kwd4">neuropathology</keyword></keywordGroup><fundingInfo><fundingAgency>Compagnia di San Paolo, Torino</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Internationaal Parkinson Fonds, The Netherlands</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p><i>Leucine‐Rich Repeat Kinase 2</i> (<i>LRRK2</i>) gene mutations are the most common known cause of Parkinson's disease (PD), but neuropathological studies are available on very few patients with <i>LRRK2</i> mutation. The reported findings range from Lewy body–positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin‐positive inclusions, and tau‐positive–only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different <i>LRRK2</i> mutation, Ile1371Val, and showing typical ubiquitin‐ and α‐synuclein–positive Lewy body pathology. These findings support the concept that the neurodegeneration associated with <i>LRRK2</i> mutations might be clinically and pathologically indistinguishable from typical PD. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>LRRK2‐Associated Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Neuropathology of Parkinson's disease associated with the</title></titleInfo><name type="personal"><namePart type="given">Maria Teresa</namePart><namePart type="family">Giordana</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neuroscience, University of Torino, Torino, Italy</affiliation><description>Correspondence: Department of Neuroscience, University of Torino, Via Cherasco 15, 10126 Torino, Italy</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carla</namePart><namePart type="family">D'Agostino</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, University of Torino, Torino, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giovanni</namePart><namePart type="family">Albani</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Istituto Auxologico Italiano, Piancavallo, Verbania, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alessandro</namePart><namePart type="family">Mauro</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, University of Torino, Torino, Italy</affiliation><affiliation>Department of Neurology, Istituto Auxologico Italiano, Piancavallo, Verbania, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alessio</namePart><namePart type="family">Di Fonzo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands</affiliation><affiliation>Department of Neurological Sciences, University of Milan and Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Angelo</namePart><namePart type="family">Antonini</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vincenzo</namePart><namePart type="family">Bonifati</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands</affiliation><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">2007-01-15</dateIssued><dateCaptured encoding="w3cdtf">2006-07-27</dateCaptured><dateValid encoding="w3cdtf">2006-09-17</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="figures">1</extent><extent unit="tables">1</extent><extent unit="references">22</extent><extent unit="words">2650</extent></physicalDescription><abstract lang="en">Leucine‐Rich Repeat Kinase 2 (LRRK2) gene mutations are the most common known cause of Parkinson's disease (PD), but neuropathological studies are available on very few patients with LRRK2 mutation. The reported findings range from Lewy body–positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin‐positive inclusions, and tau‐positive–only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different LRRK2 mutation, Ile1371Val, and showing typical ubiquitin‐ and α‐synuclein–positive Lewy body pathology. These findings support the concept that the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD. © 2006 Movement Disorder Society</abstract><note type="funding">Compagnia di San Paolo, Torino</note><note type="funding">Internationaal Parkinson Fonds, The Netherlands</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>LRRK2</topic><topic>Ile1371Val mutation</topic><topic>neuropathology</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><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>2</number></detail><extent unit="pages"><start>275</start><end>278</end><total>4</total></extent></part></relatedItem><identifier type="istex">47EF05B0CBA17E6B2C977E9638ED1D4FA35F3830</identifier><identifier type="DOI">10.1002/mds.21281</identifier><identifier type="ArticleID">MDS21281</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 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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