Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371val mutation
Identifieur interne : 001568 ( PascalFrancis/Checkpoint ); précédent : 001567; suivant : 001569Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371val mutation
Auteurs : Maria Teresa Giordana [Italie] ; Carla D'Agostino [Italie] ; Giovanni Albani [Italie] ; Alessandro Mauro [Italie] ; Alessio Di Fonzo [Pays-Bas, Italie] ; Angelo Antonini [Italie] ; Vincenzo Bonifati [Pays-Bas]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
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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.
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aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Albani, Giovanni" sort="Albani, Giovanni" uniqKey="Albani G" first="Giovanni" last="Albani">Giovanni Albani</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Istituto Auxologico Italiano</s1><s2>Piancavallo, Verbania</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Piancavallo, Verbania</wicri:noRegion></affiliation></author><author><name sortKey="Mauro, Alessandro" sort="Mauro, Alessandro" uniqKey="Mauro A" first="Alessandro" last="Mauro">Alessandro Mauro</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neuroscience, University of Torino</s1><s2>Torino</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement 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of Milan and Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena</s1><s2>Milan</s2><s3>ITA</s3><sZ>5 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Parkinson Institute, Istituti Clinici di Perfezionamento</s1><s2>Milan</s2><s3>ITA</s3><sZ>6 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Clinical Genetics, Erasmus MC Rotterdam</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0133261</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0133261 INIST</idno><idno type="RBID">Pascal:07-0133261</idno><idno type="wicri:Area/PascalFrancis/Corpus">001791</idno><idno type="wicri:Area/PascalFrancis/Curation">001530</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001568</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371val mutation</title><author><name sortKey="Giordana, Maria Teresa" sort="Giordana, Maria Teresa" uniqKey="Giordana M" first="Maria Teresa" last="Giordana">Maria Teresa Giordana</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neuroscience, University of Torino</s1><s2>Torino</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="D Agostino, Carla" sort="D Agostino, Carla" uniqKey="D Agostino C" first="Carla" last="D'Agostino">Carla D'Agostino</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neuroscience, University of Torino</s1><s2>Torino</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Albani, Giovanni" sort="Albani, Giovanni" uniqKey="Albani G" first="Giovanni" last="Albani">Giovanni Albani</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Istituto Auxologico Italiano</s1><s2>Piancavallo, Verbania</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Piancavallo, Verbania</wicri:noRegion></affiliation></author><author><name sortKey="Mauro, Alessandro" sort="Mauro, Alessandro" uniqKey="Mauro A" first="Alessandro" last="Mauro">Alessandro Mauro</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neuroscience, University of Torino</s1><s2>Torino</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Istituto Auxologico Italiano</s1><s2>Piancavallo, Verbania</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Piancavallo, Verbania</wicri:noRegion></affiliation></author><author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Clinical Genetics, Erasmus MC Rotterdam</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Neurological Sciences, University of Milan and Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena</s1><s2>Milan</s2><s3>ITA</s3><sZ>5 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Parkinson Institute, Istituti Clinici di Perfezionamento</s1><s2>Milan</s2><s3>ITA</s3><sZ>6 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Clinical Genetics, Erasmus MC Rotterdam</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term><term>Nervous system diseases</term><term>Parkinson disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Parkinson maladie</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml: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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>22</s2></fA05><fA06><s2>2</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371val mutation</s1></fA08><fA11 i1="01" i2="1"><s1>GIORDANA (Maria Teresa)</s1></fA11><fA11 i1="02" i2="1"><s1>D'AGOSTINO (Carla)</s1></fA11><fA11 i1="03" i2="1"><s1>ALBANI (Giovanni)</s1></fA11><fA11 i1="04" i2="1"><s1>MAURO (Alessandro)</s1></fA11><fA11 i1="05" i2="1"><s1>DI FONZO (Alessio)</s1></fA11><fA11 i1="06" i2="1"><s1>ANTONINI (Angelo)</s1></fA11><fA11 i1="07" i2="1"><s1>BONIFATI (Vincenzo)</s1></fA11><fA14 i1="01"><s1>Department of Neuroscience, University of Torino</s1><s2>Torino</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, Istituto Auxologico Italiano</s1><s2>Piancavallo, Verbania</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Clinical Genetics, Erasmus MC Rotterdam</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurological Sciences, University of Milan and Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena</s1><s2>Milan</s2><s3>ITA</s3><sZ>5 aut.</sZ></fA14><fA14 i1="05"><s1>Parkinson Institute, Istituti Clinici di Perfezionamento</s1><s2>Milan</s2><s3>ITA</s3><sZ>6 aut.</sZ></fA14><fA20><s1>275-278</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000145528070260</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>22 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>07-0133261</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</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>002B17A03</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>Parkinson maladie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fN21><s1>085</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Italie</li><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li><li>Lombardie</li><li>Piémont</li></region><settlement><li>Milan</li><li>Rotterdam</li><li>Turin</li></settlement></list><tree><country name="Italie"><region name="Piémont"><name sortKey="Giordana, Maria Teresa" sort="Giordana, Maria Teresa" uniqKey="Giordana M" first="Maria Teresa" last="Giordana">Maria Teresa Giordana</name></region><name sortKey="Albani, Giovanni" sort="Albani, Giovanni" uniqKey="Albani G" first="Giovanni" last="Albani">Giovanni Albani</name><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name><name sortKey="D Agostino, Carla" sort="D Agostino, Carla" uniqKey="D Agostino C" first="Carla" last="D'Agostino">Carla D'Agostino</name><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name><name sortKey="Mauro, Alessandro" sort="Mauro, Alessandro" uniqKey="Mauro A" first="Alessandro" last="Mauro">Alessandro Mauro</name><name sortKey="Mauro, Alessandro" sort="Mauro, Alessandro" uniqKey="Mauro A" first="Alessandro" last="Mauro">Alessandro Mauro</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name></region><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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