Presenting symptoms of GBA-related Parkinson's disease.
Identifieur interne : 000498 ( Ncbi/Merge ); précédent : 000497; suivant : 000499Presenting symptoms of GBA-related Parkinson's disease.
Auteurs : Nikola Kresojevi [Serbie] ; Milena Jankovi [Serbie] ; Igor Petrovi [Serbie] ; Kishore. Kumar [Australie] ; Nataša Dragaševi [Serbie] ; Valerija Dobri [Serbie] ; Ivana Novakovi [Serbie] ; Marina Svetel [Serbie] ; Christine Klein [Allemagne] ; Tatjana Pekmezovi [Serbie] ; Vladimir. Kosti [Serbie]Source :
- Parkinsonism & related disorders ; 2015.
Abstract
Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD).
DOI: 10.1016/j.parkreldis.2015.04.028
PubMed: 25957717
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Kumar</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, St Leonards, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, St Leonards, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Dragasevi, Natasa" sort="Dragasevi, Natasa" uniqKey="Dragasevi N" first="Nataša" last="Dragaševi">Nataša Dragaševi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri">Valerija Dobri</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Neurogenetics, University of Luebeck, Luebeck</wicri:regionArea><wicri:noRegion>Luebeck</wicri:noRegion><wicri:noRegion>Luebeck</wicri:noRegion><wicri:noRegion>Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Pekmezovi, Tatjana" sort="Pekmezovi, Tatjana" uniqKey="Pekmezovi T" first="Tatjana" last="Pekmezovi">Tatjana Pekmezovi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir. Kosti</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia. Electronic address: vladimir.s.kostic@gmail.com.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25957717</idno><idno type="pmid">25957717</idno><idno type="doi">10.1016/j.parkreldis.2015.04.028</idno><idno type="wicri:Area/PubMed/Corpus">000012</idno><idno type="wicri:Area/PubMed/Curation">000012</idno><idno type="wicri:Area/PubMed/Checkpoint">000007</idno><idno type="wicri:Area/Ncbi/Merge">000498</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Presenting symptoms of GBA-related Parkinson's disease.</title><author><name sortKey="Kresojevi, Nikola" sort="Kresojevi, Nikola" uniqKey="Kresojevi N" first="Nikola" last="Kresojevi">Nikola Kresojevi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Jankovi, Milena" sort="Jankovi, Milena" uniqKey="Jankovi M" first="Milena" last="Jankovi">Milena Jankovi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Petrovi, Igor" sort="Petrovi, Igor" uniqKey="Petrovi I" first="Igor" last="Petrovi">Igor Petrovi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Kumar, Kishore R" sort="Kumar, Kishore R" uniqKey="Kumar K" first="Kishore" last="Kumar">Kishore. Kumar</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, St Leonards, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, St Leonards, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Dragasevi, Natasa" sort="Dragasevi, Natasa" uniqKey="Dragasevi N" first="Nataša" last="Dragaševi">Nataša Dragaševi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri">Valerija Dobri</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Neurogenetics, University of Luebeck, Luebeck</wicri:regionArea><wicri:noRegion>Luebeck</wicri:noRegion><wicri:noRegion>Luebeck</wicri:noRegion><wicri:noRegion>Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Pekmezovi, Tatjana" sort="Pekmezovi, Tatjana" uniqKey="Pekmezovi T" first="Tatjana" last="Pekmezovi">Tatjana Pekmezovi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir. Kosti</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia. Electronic address: vladimir.s.kostic@gmail.com.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="e-ISSN">1873-5126</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD).</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="In-Process"><PMID Version="1">25957717</PMID><DateCreated><Year>2015</Year><Month>06</Month><Day>15</Day></DateCreated><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1873-5126</ISSN><JournalIssue CitedMedium="Internet"><Volume>21</Volume><Issue>7</Issue><PubDate><Year>2015</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Parkinsonism & related disorders</Title><ISOAbbreviation>Parkinsonism Relat. Disord.</ISOAbbreviation></Journal><ArticleTitle>Presenting symptoms of GBA-related Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>804-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.parkreldis.2015.04.028</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1353-8020(15)00194-7</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD).</AbstractText><AbstractText Label="AIM" NlmCategory="OBJECTIVE">To explore whether presenting symptoms differ between PD-GBA and sPD patients.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Demographic and clinical features (including presenting symptoms) were collected for 578 PD patients. Sequence analysis was performed for exons 8-11 of the GBA gene for all participants.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">39 PD patients (6.7%) with GBA mutations were compared to 539 PD patients without them. Although no statistically significant differences were found regarding the presenting symptoms, we observed that pain was more frequently reported as an initial problem in the PD-GBA (10.3%) than in the sPD group (3.0%) (chi square p = 0.039; logistic regression analysis OR = 3.74; p = 0.024).</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Overall, the presenting symptoms were similar in PD-GBA and sPD patients, with the exception that pain might be more frequent in PD-GBA.</AbstractText><CopyrightInformation>Copyright © 2015 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kresojević</LastName><ForeName>Nikola</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Janković</LastName><ForeName>Milena</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petrović</LastName><ForeName>Igor</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kumar</LastName><ForeName>Kishore R</ForeName><Initials>KR</Initials><AffiliationInfo><Affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, St Leonards, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dragašević</LastName><ForeName>Nataša</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dobričić</LastName><ForeName>Valerija</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Novaković</LastName><ForeName>Ivana</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Svetel</LastName><ForeName>Marina</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pekmezović</LastName><ForeName>Tatjana</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kostić</LastName><ForeName>Vladimir S</ForeName><Initials>VS</Initials><AffiliationInfo><Affiliation>Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia. Electronic address: vladimir.s.kostic@gmail.com.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>05</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Parkinsonism Relat Disord</MedlineTA><NlmUniqueID>9513583</NlmUniqueID><ISSNLinking>1353-8020</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Glucocerebrosidase</Keyword><Keyword MajorTopicYN="N">Pain</Keyword><Keyword MajorTopicYN="N">Parkinson's disease</Keyword><Keyword MajorTopicYN="N">Presenting symptom</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>11</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>4</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>4</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2015</Year><Month>5</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>5</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>5</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>5</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25957717</ArticleId><ArticleId IdType="pii">S1353-8020(15)00194-7</ArticleId><ArticleId IdType="doi">10.1016/j.parkreldis.2015.04.028</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Serbie</li></country></list><tree><country name="Serbie"><noRegion><name sortKey="Kresojevi, Nikola" sort="Kresojevi, Nikola" uniqKey="Kresojevi N" first="Nikola" last="Kresojevi">Nikola Kresojevi</name></noRegion><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri">Valerija Dobri</name><name sortKey="Dragasevi, Natasa" sort="Dragasevi, Natasa" uniqKey="Dragasevi N" first="Nataša" last="Dragaševi">Nataša Dragaševi</name><name sortKey="Jankovi, Milena" sort="Jankovi, Milena" uniqKey="Jankovi M" first="Milena" last="Jankovi">Milena Jankovi</name><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir. Kosti</name><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name><name sortKey="Pekmezovi, Tatjana" sort="Pekmezovi, Tatjana" uniqKey="Pekmezovi T" first="Tatjana" last="Pekmezovi">Tatjana Pekmezovi</name><name sortKey="Petrovi, Igor" sort="Petrovi, Igor" uniqKey="Petrovi I" first="Igor" last="Petrovi">Igor Petrovi</name><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name></country><country name="Australie"><noRegion><name sortKey="Kumar, Kishore R" sort="Kumar, Kishore R" uniqKey="Kumar K" first="Kishore" last="Kumar">Kishore. Kumar</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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