ParkinsonCanadaV1, Main, Exploration, bibRecord, 001657

Glucocerebrosidase mutations in diffuse Lewy body disease✩

Identifieur interne : 001657 ( Main/Exploration ); précédent : 001656; suivant : 001658

Glucocerebrosidase mutations in diffuse Lewy body disease✩

Auteurs : Kenya Nishioka [États-Unis] ; Owen A. Ross [États-Unis] ; Carles Vilari O-Güell [États-Unis, Canada] ; Stephanie A. Cobb [États-Unis] ; Jennifer M. Kachergus [États-Unis] ; David M. A. Mann [Royaume-Uni] ; Julie Snowden [Royaume-Uni] ; Anna M. T. Richardson [Royaume-Uni] ; David Neary [Royaume-Uni] ; Christopher A. Robinson [Canada] ; Alex Rajput [Canada] ; Spiridon Papapetropoulos [États-Unis] ; Deborah C. Mash [États-Unis] ; Rajesh Pahwa [États-Unis] ; Kelly E. Lyons [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Dennis W. Dickson [États-Unis] ; Matthew J. Farrer [États-Unis, Canada]

Source :

Parkinsonism & related disorders [ 1353-8020 ] ; 2011.

RBID : PMC:4721925

Abstract

Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson’s disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson’s disease.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721925

DOI: 10.1016/j.parkreldis.2010.09.009
PubMed: 20971030
PubMed Central: 4721925

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Glucocerebrosidase mutations in diffuse Lewy body disease<sup><xref ref-type="fn" rid="FN2">✩</xref>
</sup>
</title>
<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name>
<affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name>
<affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Richardson, Anna M T" sort="Richardson, Anna M T" uniqKey="Richardson A" first="Anna M. T." last="Richardson">Anna M. T. Richardson</name>
<affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Neary, David" sort="Neary, David" uniqKey="Neary D" first="David" last="Neary">David Neary</name>
<affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Robinson, Christopher A" sort="Robinson, Christopher A" uniqKey="Robinson C" first="Christopher A." last="Robinson">Christopher A. Robinson</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea>
<wicri:noRegion>Saskatchewan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea>
<wicri:noRegion>Saskatchewan</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A4">Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan</wicri:regionArea>
<wicri:noRegion>Saskatchewan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, KS</wicri:regionArea>
<wicri:noRegion>KS</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lyons, Kelly E" sort="Lyons, Kelly E" uniqKey="Lyons K" first="Kelly E." last="Lyons">Kelly E. Lyons</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, KS</wicri:regionArea>
<wicri:noRegion>KS</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">20971030</idno>
<idno type="pmc">4721925</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721925</idno>
<idno type="RBID">PMC:4721925</idno>
<idno type="doi">10.1016/j.parkreldis.2010.09.009</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">000893</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000893</idno>
<idno type="wicri:Area/Pmc/Curation">000893</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000893</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000947</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000947</idno>
<idno type="wicri:Area/Ncbi/Merge">000D61</idno>
<idno type="wicri:Area/Ncbi/Curation">000D61</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000D61</idno>
<idno type="wicri:doubleKey">1353-8020:2011:Nishioka K:glucocerebrosidase:mutations:in</idno>
<idno type="wicri:Area/Main/Merge">001727</idno>
<idno type="wicri:Area/Main/Curation">001657</idno>
<idno type="wicri:Area/Main/Exploration">001657</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Glucocerebrosidase mutations in diffuse Lewy body disease<sup><xref ref-type="fn" rid="FN2">✩</xref>
</sup>
</title>
<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name>
<affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name>
<affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Richardson, Anna M T" sort="Richardson, Anna M T" uniqKey="Richardson A" first="Anna M. T." last="Richardson">Anna M. T. Richardson</name>
<affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Neary, David" sort="Neary, David" uniqKey="Neary D" first="David" last="Neary">David Neary</name>
<affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Robinson, Christopher A" sort="Robinson, Christopher A" uniqKey="Robinson C" first="Christopher A." last="Robinson">Christopher A. Robinson</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea>
<wicri:noRegion>Saskatchewan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea>
<wicri:noRegion>Saskatchewan</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A4">Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan</wicri:regionArea>
<wicri:noRegion>Saskatchewan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, KS</wicri:regionArea>
<wicri:noRegion>KS</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lyons, Kelly E" sort="Lyons, Kelly E" uniqKey="Lyons K" first="Kelly E." last="Lyons">Kelly E. Lyons</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, KS</wicri:regionArea>
<wicri:noRegion>KS</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Parkinsonism & related disorders</title>
<idno type="ISSN">1353-8020</idno>
<idno type="eISSN">1873-5126</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (<italic>GBA</italic>
) are a risk factor for Parkinson’s disease and Lewy body disorders. In the present study, we have identified <italic>GBA</italic>
 mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that <italic>GBA</italic>
 mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson’s disease.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Grand Manchester</li>
</region>
<settlement><li>Manchester</li>
</settlement>
<orgName><li>Université de Manchester</li>
</orgName>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
</noRegion>
<name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name>
<name sortKey="Lyons, Kelly E" sort="Lyons, Kelly E" uniqKey="Lyons K" first="Kelly E." last="Lyons">Kelly E. Lyons</name>
<name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name>
<name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
<name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</country>
<country name="Canada"><noRegion><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
</noRegion>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name>
<name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name>
<name sortKey="Robinson, Christopher A" sort="Robinson, Christopher A" uniqKey="Robinson C" first="Christopher A." last="Robinson">Christopher A. Robinson</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name>
</region>
<name sortKey="Neary, David" sort="Neary, David" uniqKey="Neary D" first="David" last="Neary">David Neary</name>
<name sortKey="Richardson, Anna M T" sort="Richardson, Anna M T" uniqKey="Richardson A" first="Anna M. T." last="Richardson">Anna M. T. Richardson</name>
<name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001657 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001657 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Canada
   |area=    ParkinsonCanadaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:4721925
   |texte=   Glucocerebrosidase mutations in diffuse Lewy body disease✩
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:20971030" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a ParkinsonCanadaV1

This area was generated with Dilib version V0.6.29.
Data generation: Thu May 4 22:20:19 2017. Site generation: Fri Dec 23 23:17:26 2022

La maladie de Parkinson au Canada (serveur d'exploration)

Glucocerebrosidase mutations in diffuse Lewy body disease✩

Glucocerebrosidase mutations in diffuse Lewy body disease✩

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	La maladie de Parkinson au Canada (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.