Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations
Identifieur interne : 001C24 ( Ncbi/Merge ); précédent : 001C23; suivant : 001C25Glucocerebrosidase 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.
English descriptors
- KwdEn :
- Aged, Cohort Studies, Female, Gene Expression Regulation, Enzymologic (genetics), Genotype, Glucosylceramidase (genetics), Glucosylceramidase (metabolism), Humans, Jews (genetics), Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation (genetics), Parkinson Disease (enzymology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Severity of Illness Index.
- MESH :
- chemical , genetics : Glucosylceramidase, Protein-Serine-Threonine Kinases.
- enzymology : Parkinson Disease.
- genetics : Gene Expression Regulation, Enzymologic, Jews, Mutation, Parkinson Disease.
- chemical , metabolism : Glucosylceramidase.
- Aged, Cohort Studies, Female, Genotype, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Severity of Illness Index.
Abstract
Glucocerebrosidase (
Url:
DOI: 10.1093/brain/awv179
PubMed: 26117366
PubMed Central: 4564023
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PMC:4564023Le document en format XML
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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. 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></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26117366</idno><idno type="pmc">4564023</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564023</idno><idno type="RBID">PMC:4564023</idno><idno type="doi">10.1093/brain/awv179</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000029</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000029</idno><idno type="wicri:Area/Pmc/Curation">000029</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000029</idno><idno type="wicri:Area/Pmc/Checkpoint">000297</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000297</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">000421</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000421</idno><idno type="wicri:Area/PubMed/Curation">000421</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000421</idno><idno type="wicri:Area/PubMed/Checkpoint">000421</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000421</idno><idno type="wicri:Area/Ncbi/Merge">001C24</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Glucocerebrosidase activity in Parkinson’s disease with and without <italic>GBA</italic> mutations</title><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. 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><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Gene Expression Regulation, Enzymologic (genetics)</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Glucosylceramidase (metabolism)</term><term>Humans</term><term>Jews (genetics)</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Expression Regulation, Enzymologic</term><term>Jews</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Severity of Illness Index</term></keywords></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><double pmid="26117366"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Glucocerebrosidase activity in Parkinson’s disease with and without <italic>GBA</italic> mutations</title><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. 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></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26117366</idno><idno type="pmc">4564023</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564023</idno><idno type="RBID">PMC:4564023</idno><idno type="doi">10.1093/brain/awv179</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000029</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000029</idno><idno type="wicri:Area/Pmc/Curation">000029</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000029</idno><idno type="wicri:Area/Pmc/Checkpoint">000297</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000297</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Glucocerebrosidase activity in Parkinson’s disease with and without <italic>GBA</italic> mutations</title><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. 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><pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.</title><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA 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 rna2104@columbia.edu.</nlm:affiliation><country wicri:rule="url">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA 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><placeName><region type="state">État de New York</region></placeName></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="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA 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:affiliation><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, USA 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><placeName><region type="state">État de New York</region></placeName></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="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></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="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></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="2"><nlm:affiliation>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:affiliation><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><placeName><region type="state">Ohio</region></placeName></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="2"><nlm:affiliation>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:affiliation><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><placeName><region type="state">Ohio</region></placeName></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:affiliation>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.</nlm:affiliation><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:affiliation>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.</nlm:affiliation><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="2"><nlm:affiliation>5 Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Wolf, Pavlina" sort="Wolf, Pavlina" uniqKey="Wolf P" first="Pavlina" last="Wolf">Pavlina Wolf</name><affiliation wicri:level="2"><nlm:affiliation>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name><affiliation wicri:level="2"><nlm:affiliation>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Keutzer, Joan" sort="Keutzer, Joan" uniqKey="Keutzer J" first="Joan" last="Keutzer">Joan Keutzer</name><affiliation wicri:level="2"><nlm:affiliation>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA 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 7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA.</nlm:affiliation><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, USA 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 7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea><placeName><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="2"><nlm:affiliation>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26117366</idno><idno type="pmid">26117366</idno><idno type="doi">10.1093/brain/awv179</idno><idno type="wicri:Area/PubMed/Corpus">000421</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000421</idno><idno type="wicri:Area/PubMed/Curation">000421</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000421</idno><idno type="wicri:Area/PubMed/Checkpoint">000421</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000421</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.</title><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA 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 rna2104@columbia.edu.</nlm:affiliation><country wicri:rule="url">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA 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><placeName><region type="state">État de New York</region></placeName></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="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA 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:affiliation><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, USA 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><placeName><region type="state">État de New York</region></placeName></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="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></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="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></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="2"><nlm:affiliation>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:affiliation><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><placeName><region type="state">Ohio</region></placeName></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="2"><nlm:affiliation>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:affiliation><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><placeName><region type="state">Ohio</region></placeName></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:affiliation>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.</nlm:affiliation><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:affiliation>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.</nlm:affiliation><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="2"><nlm:affiliation>5 Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation><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><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Wolf, Pavlina" sort="Wolf, Pavlina" uniqKey="Wolf P" first="Pavlina" last="Wolf">Pavlina Wolf</name><affiliation wicri:level="2"><nlm:affiliation>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name><affiliation wicri:level="2"><nlm:affiliation>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Keutzer, Joan" sort="Keutzer, Joan" uniqKey="Keutzer J" first="Joan" last="Keutzer">Joan Keutzer</name><affiliation wicri:level="2"><nlm:affiliation>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation wicri:level="2"><nlm:affiliation>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA 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 7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA.</nlm:affiliation><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, USA 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 7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea><placeName><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="2"><nlm:affiliation>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author></analytic><series><title level="j">Brain : a journal of neurology</title><idno type="eISSN">1460-2156</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Gene Expression Regulation, Enzymologic (genetics)</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Glucosylceramidase (metabolism)</term><term>Humans</term><term>Jews (genetics)</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Expression Regulation, Enzymologic</term><term>Jews</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in numerous studies. However, it is unknown whether the increased risk of Parkinson's disease in GBA 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 (n = 517) and controls (n = 252) with and without GBA mutations. Participants were recruited from Columbia University, New York, and fully sequenced for GBA mutations and genotyped for the LRRK2 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 GBA mutation status and Parkinson's disease diagnosis. Parkinson's disease patients were more likely than controls to carry the LRRK2 G2019S mutation (n = 39, 7.5% versus n = 2, 0.8%, P < 0.001) and GBA mutations or variants (seven homozygotes and compound heterozygotes and 81 heterozygotes, 17.0% versus 17 heterozygotes, 6.7%, P < 0.001). GBA homozygotes/compound heterozygotes had lower enzymatic activity than GBA heterozygotes (0.85 µmol/l/h versus 7.88 µmol/l/h, P < 0.001), and GBA heterozygotes had lower enzymatic activity than GBA and LRRK2 non-carriers (7.88 µmol/l/h versus 11.93 µmol/l/h, P < 0.001). Glucocerebrosidase activity was reduced in heterozygotes compared to non-carriers when each mutation was compared independently (N370S, P < 0.001; L444P, P < 0.001; 84GG, P = 0.003; R496H, P = 0.018) and also reduced in GBA variants associated with Parkinson's risk but not with Gaucher disease (E326K, P = 0.009; T369M, P < 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, P = 0.011). Difference compared to controls persisted in patients with idiopathic Parkinson's disease (after exclusion of all GBA and LRRK2 carriers; 11.53 µmol/l/h, versus 12.11 µmol/l/h, P = 0.036) and after adjustment for age and gender (P = 0.012). Interestingly, LRRK2 G2019S carriers (n = 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, P = 0.002). In patients with idiopathic Parkinson's, higher glucocerebrosidase enzymatic activity was associated with longer disease duration (P = 0.002) in adjusted models, suggesting a milder disease course. We conclude that lower glucocerebrosidase enzymatic activity is strongly associated with GBA mutations, and modestly with idiopathic Parkinson's disease. The association of lower glucocerebrosidase activity in both GBA mutation carriers and Parkinson's patients without GBA mutations suggests that loss of glucocerebrosidase function contributes to the pathogenesis of Parkinson's disease. High glucocerebrosidase enzymatic activity in LRRK2 G2019S carriers may reflect a distinct pathogenic mechanism. Taken together, these data suggest that glucocerebrosidase enzymatic activity could be a modifiable therapeutic target.</div></front></TEI></pubmed></double></record>Pour manipuler ce document sous Unix (Dilib)
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