Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations
Identifieur interne : 000297 ( Pmc/Checkpoint ); précédent : 000296; suivant : 000298Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations
Auteurs : Roy N. Alcalay [États-Unis] ; Oren A. Levy [États-Unis] ; Cheryl C. Waters [États-Unis] ; Stanley Fahn [États-Unis] ; Blair Ford [États-Unis] ; Sheng-Han Kuo [États-Unis] ; Pietro Mazzoni [États-Unis] ; Michael W. Pauciulo [États-Unis] ; William C. Nichols [États-Unis] ; Ziv Gan-Or [Canada] ; Guy A. Rouleau [Canada] ; Wendy K. Chung [États-Unis] ; Pavlina Wolf [États-Unis] ; Petra Oliva [États-Unis] ; Joan Keutzer [États-Unis] ; Karen Marder [États-Unis] ; Xiaokui Zhang [États-Unis]Source :
- Brain [ 0006-8950 ] ; 2015.
Abstract
Glucocerebrosidase (
Url:
DOI: 10.1093/brain/awv179
PubMed: 26117366
PubMed Central: 4564023
Affiliations:
- Canada, États-Unis
- Québec, État de New York
- Montréal, New York
- Université Columbia, Université McGill
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Alcalay</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. 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Pauciulo</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF3">3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH</wicri:regionArea><wicri:noRegion>OH</wicri:noRegion></affiliation></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. 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Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>7 Gertrude H. 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Alcalay</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Waters, Cheryl C" sort="Waters, Cheryl C" uniqKey="Waters C" first="Cheryl C." last="Waters">Cheryl C. Waters</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Kuo, Sheng Han" sort="Kuo, Sheng Han" uniqKey="Kuo S" first="Sheng-Han" last="Kuo">Sheng-Han Kuo</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF3">3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH</wicri:regionArea><wicri:noRegion>OH</wicri:noRegion></affiliation></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF3">3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH</wicri:regionArea><wicri:noRegion>OH</wicri:noRegion></affiliation></author><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation wicri:level="4"><nlm:aff id="awv179-AFF4">4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="4"><nlm:aff id="awv179-AFF4">4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF5">5 Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>5 Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Wolf, Pavlina" sort="Wolf, Pavlina" uniqKey="Wolf P" first="Pavlina" last="Wolf">Pavlina Wolf</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Keutzer, Joan" sort="Keutzer, Joan" uniqKey="Keutzer J" first="Joan" last="Keutzer">Joan Keutzer</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="awv179-AFF7">7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea><orgName type="university">Université Columbia</orgName><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Zhang, Xiaokui" sort="Zhang, Xiaokui" uniqKey="Zhang X" first="Xiaokui" last="Zhang">Xiaokui Zhang</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Glucocerebrosidase (<italic>GBA</italic>) mutations are common risk factors for Parkinson’s disease. Alcalay <italic>et al.</italic> measure glucocerebrosidase enzymatic activity in dried blood spots from patients with Parkinson’s disease with and without <italic>GBA</italic> mutations, and controls. Low glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic> mutations, and modestly associated with idiopathic Parkinson’s disease.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="iso-abbrev">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-id journal-id-type="hwp">brain</journal-id><journal-title-group><journal-title>Brain</journal-title></journal-title-group><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26117366</article-id><article-id pub-id-type="pmc">4564023</article-id><article-id pub-id-type="doi">10.1093/brain/awv179</article-id><article-id pub-id-type="publisher-id">awv179</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>1040</subject></subj-group></article-categories><title-group><article-title>Glucocerebrosidase activity in Parkinson’s disease with and without <italic>GBA</italic> mutations</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Alcalay</surname><given-names>Roy N.</given-names></name><xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv179-AFF2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Levy</surname><given-names>Oren A.</given-names></name><xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv179-AFF2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Waters</surname><given-names>Cheryl C.</given-names></name><xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fahn</surname><given-names>Stanley</given-names></name><xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ford</surname><given-names>Blair</given-names></name><xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kuo</surname><given-names>Sheng-Han</given-names></name><xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mazzoni</surname><given-names>Pietro</given-names></name><xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pauciulo</surname><given-names>Michael W.</given-names></name><xref ref-type="aff" rid="awv179-AFF3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nichols</surname><given-names>William C.</given-names></name><xref ref-type="aff" rid="awv179-AFF3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gan-Or</surname><given-names>Ziv</given-names></name><xref ref-type="aff" rid="awv179-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rouleau</surname><given-names>Guy A.</given-names></name><xref ref-type="aff" rid="awv179-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Chung</surname><given-names>Wendy K.</given-names></name><xref ref-type="aff" rid="awv179-AFF5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wolf</surname><given-names>Pavlina</given-names></name><xref ref-type="aff" rid="awv179-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Oliva</surname><given-names>Petra</given-names></name><xref ref-type="aff" rid="awv179-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Keutzer</surname><given-names>Joan</given-names></name><xref ref-type="aff" rid="awv179-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Marder</surname><given-names>Karen</given-names></name><xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv179-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv179-AFF7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zhang</surname><given-names>Xiaokui</given-names></name><xref ref-type="aff" rid="awv179-AFF6"><sup>6</sup></xref></contrib><aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</aff><aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</aff><aff id="awv179-AFF3">3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH, USA</aff><aff id="awv179-AFF4">4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada</aff><aff id="awv179-AFF5">5 Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</aff><aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</aff><aff id="awv179-AFF7">7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA</aff></contrib-group><author-notes><corresp id="awv179-COR1">Correspondence to: Roy N. Alcalay, 710 West 168th street, New York City, New York USA E-mail: <email>rna2104@columbia.edu</email></corresp></author-notes><pub-date pub-type="ppub"><month>9</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>27</day><month>6</month><year>2015</year></pub-date><volume>138</volume><issue>9</issue><fpage>2648</fpage><lpage>2658</lpage><history><date date-type="received"><day>28</day><month>1</month><year>2015</year></date><date date-type="rev-recd"><day>01</day><month>4</month><year>2015</year></date><date date-type="accepted"><day>27</day><month>4</month><year>2015</year></date></history><permissions><copyright-statement>© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com</copyright-statement><copyright-year>2015</copyright-year></permissions><abstract abstract-type="precis"><p>Glucocerebrosidase (<italic>GBA</italic>) mutations are common risk factors for Parkinson’s disease. Alcalay <italic>et al.</italic> measure glucocerebrosidase enzymatic activity in dried blood spots from patients with Parkinson’s disease with and without <italic>GBA</italic> mutations, and controls. Low glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic> mutations, and modestly associated with idiopathic Parkinson’s disease.</p></abstract><abstract abstract-type="graphical"><p><fig id="fig1g" fig-type="featured" position="float"><caption><p>Glucocerebrosidase (<italic>GBA</italic>) mutations are common risk factors for Parkinson’s disease. Alcalay <italic>et al.</italic> measure glucocerebrosidase enzymatic activity in dried blood spots from patients with Parkinson’s disease with and without <italic>GBA</italic> mutations, and controls. Low glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic> mutations, and modestly associated with idiopathic Parkinson’s disease.</p></caption><graphic xlink:href="awv179fig1g"></graphic></fig></p></abstract><abstract><p>Glucocerebrosidase (<italic>GBA</italic>) mutations have been associated with Parkinson’s disease in numerous studies. However, it is unknown whether the increased risk of Parkinson’s disease in <italic>GBA</italic> carriers is due to a loss of glucocerebrosidase enzymatic activity. We measured glucocerebrosidase enzymatic activity in dried blood spots in patients with Parkinson's disease (<italic>n = </italic>517) and controls (<italic>n = </italic>252) with and without <italic>GBA</italic> mutations. Participants were recruited from Columbia University, New York, and fully sequenced for <italic>GBA</italic> mutations and genotyped for the <italic>LRRK2</italic> G2019S mutation, the most common autosomal dominant mutation in the Ashkenazi Jewish population. Glucocerebrosidase enzymatic activity in dried blood spots was measured by a mass spectrometry-based assay and compared among participants categorized by <italic>GBA</italic> mutation status and Parkinson’s disease diagnosis. Parkinson’s disease patients were more likely than controls to carry the <italic>LRRK2</italic> G2019S mutation (<italic>n = </italic>39, 7.5% versus <italic>n = </italic>2, 0.8%, <italic>P < </italic>0.001) and <italic>GBA</italic> mutations or variants (seven homozygotes and compound heterozygotes and 81 heterozygotes, 17.0% versus 17 heterozygotes, 6.7%, <italic>P < </italic>0.001). <italic>GBA</italic> homozygotes/compound heterozygotes had lower enzymatic activity than <italic>GBA </italic>heterozygotes (0.85 µmol/l/h versus 7.88 µmol/l/h, <italic>P < </italic>0.001), and <italic>GBA</italic> heterozygotes had lower enzymatic activity than <italic>GBA</italic> and <italic>LRRK2 </italic>non-carriers (7.88 µmol/l/h versus 11.93 µmol/l/h, <italic>P < </italic>0.001). Glucocerebrosidase activity was reduced in heterozygotes compared to non-carriers when each mutation was compared independently (N370S, <italic>P < </italic>0.001; L444P, <italic>P < </italic>0.001; 84GG, <italic>P = </italic>0.003; R496H, <italic>P = </italic>0.018) and also reduced in <italic>GBA</italic> variants associated with Parkinson’s risk but not with Gaucher disease (E326K, <italic>P = </italic>0.009; T369M, <italic>P < </italic>0.001). When all patients with Parkinson’s disease were considered, they had lower mean glucocerebrosidase enzymatic activity than controls (11.14 µmol/l/h versus 11.85 µmol/l/h, <italic>P = </italic>0.011). Difference compared to controls persisted in patients with idiopathic Parkinson’s disease (after exclusion of all <italic>GBA</italic> and <italic>LRRK2</italic> carriers; 11.53 µmol/l/h, versus 12.11 µmol/l/h, <italic>P = </italic>0.036) and after adjustment for age and gender (<italic>P = </italic>0.012). Interestingly, <italic>LRRK2</italic> G2019S carriers (<italic>n = </italic>36), most of whom had Parkinson’s disease, had higher enzymatic activity than non-carriers (13.69 µmol/l/h versus 11.93 µmol/l/h, <italic>P = </italic>0.002). In patients with idiopathic Parkinson’s, higher glucocerebrosidase enzymatic activity was associated with longer disease duration (<italic>P = </italic>0.002) in adjusted models, suggesting a milder disease course. We conclude that lower glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic> mutations, and modestly with idiopathic Parkinson’s disease. The association of lower glucocerebrosidase activity in both <italic>GBA</italic> mutation carriers and Parkinson’s patients without <italic>GBA</italic> mutations suggests that loss of glucocerebrosidase function contributes to the pathogenesis of Parkinson’s disease. High glucocerebrosidase enzymatic activity in <italic>LRRK2</italic> G2019S carriers may reflect a distinct pathogenic mechanism. Taken together, these data suggest that glucocerebrosidase enzymatic activity could be a modifiable therapeutic target.</p></abstract><kwd-group kwd-group-type="keywords"><kwd>Parkinson’s disease</kwd><kwd>glucocerebrosidase</kwd><kwd>lysosome</kwd><kwd>genetics</kwd><kwd>LRRK2</kwd></kwd-group><counts><page-count count="11"></page-count></counts></article-meta></front></pmc><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Québec</li><li>État de New York</li></region><settlement><li>Montréal</li><li>New York</li></settlement><orgName><li>Université Columbia</li><li>Université McGill</li></orgName></list><tree><country name="États-Unis"><noRegion><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name></noRegion><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><name sortKey="Keutzer, Joan" sort="Keutzer, Joan" uniqKey="Keutzer J" first="Joan" last="Keutzer">Joan Keutzer</name><name sortKey="Kuo, Sheng Han" sort="Kuo, Sheng Han" uniqKey="Kuo S" first="Sheng-Han" last="Kuo">Sheng-Han Kuo</name><name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name><name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name><name sortKey="Waters, Cheryl C" sort="Waters, Cheryl C" uniqKey="Waters C" first="Cheryl C." last="Waters">Cheryl C. Waters</name><name sortKey="Wolf, Pavlina" sort="Wolf, Pavlina" uniqKey="Wolf P" first="Pavlina" last="Wolf">Pavlina Wolf</name><name sortKey="Zhang, Xiaokui" sort="Zhang, Xiaokui" uniqKey="Zhang X" first="Xiaokui" last="Zhang">Xiaokui Zhang</name></country><country name="Canada"><region name="Québec"><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name></region><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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