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

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Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.

Identifieur interne : 000172 ( PubMed/Corpus ); précédent : 000171; suivant : 000173

Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.

Auteurs : Gian D. Pal ; Deborah Hall ; Bichun Ouyang ; Jessica Phelps ; Roy Alcalay ; Michael W. Pauciulo ; William C. Nichols ; Lorraine Clark ; Helen Mejia-Santana ; Lucia Blasucci ; Christopher G. Goetz ; Cynthia Comella ; Amy Colcher ; Ziv Gan-Or ; Guy A. Rouleau ; Karen Marder

Source :

RBID : pubmed:27709117

Abstract

In a cohort of patients with young-onset Parkinson's disease (PD), the authors assessed (1) the prevalence of genetic mutations in those who enrolled in deep brain stimulation (DBS) programs compared with those who did not enroll DBS programs and (2) specific genetic and clinical predictors of DBS enrollment.

DOI: 10.1002/mdc3.12309
PubMed: 27709117

Links to Exploration step

pubmed:27709117

Le document en format XML

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<name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name>
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<nlm:affiliation>Department of Neurology and the Taub Institute, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation>
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<name sortKey="Blasucci, Lucia" sort="Blasucci, Lucia" uniqKey="Blasucci L" first="Lucia" last="Blasucci">Lucia Blasucci</name>
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<name sortKey="Goetz, Christopher G" sort="Goetz, Christopher G" uniqKey="Goetz C" first="Christopher G" last="Goetz">Christopher G. Goetz</name>
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<nlm:affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</nlm:affiliation>
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<name sortKey="Comella, Cynthia" sort="Comella, Cynthia" uniqKey="Comella C" first="Cynthia" last="Comella">Cynthia Comella</name>
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<nlm:affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</nlm:affiliation>
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<name sortKey="Colcher, Amy" sort="Colcher, Amy" uniqKey="Colcher A" first="Amy" last="Colcher">Amy Colcher</name>
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<nlm:affiliation>PRKNson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania, USA.</nlm:affiliation>
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<name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name>
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<nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.</nlm:affiliation>
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<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name>
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<nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada; The Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.</nlm:affiliation>
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<name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
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<nlm:affiliation>Department of Neurology and the Taub Institute, Columbia University Medical Center, New York, NY, USA.</nlm:affiliation>
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<div type="abstract" xml:lang="en">In a cohort of patients with young-onset Parkinson's disease (PD), the authors assessed (1) the prevalence of genetic mutations in those who enrolled in deep brain stimulation (DBS) programs compared with those who did not enroll DBS programs and (2) specific genetic and clinical predictors of DBS enrollment.</div>
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<DateCreated>
<Year>2016</Year>
<Month>10</Month>
<Day>06</Day>
</DateCreated>
<DateRevised>
<Year>2017</Year>
<Month>02</Month>
<Day>24</Day>
</DateRevised>
<Article PubModel="Print-Electronic">
<Journal>
<JournalIssue CitedMedium="Print">
<Volume>3</Volume>
<Issue>5</Issue>
<PubDate>
<MedlineDate>2016 Sep-Oct</MedlineDate>
</PubDate>
</JournalIssue>
<Title>Movement disorders clinical practice</Title>
<ISOAbbreviation>Mov Disord Clin Pract</ISOAbbreviation>
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<ArticleTitle>Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.</ArticleTitle>
<Pagination>
<MedlinePgn>465-471</MedlinePgn>
</Pagination>
<Abstract>
<AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">In a cohort of patients with young-onset Parkinson's disease (PD), the authors assessed (1) the prevalence of genetic mutations in those who enrolled in deep brain stimulation (DBS) programs compared with those who did not enroll DBS programs and (2) specific genetic and clinical predictors of DBS enrollment.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Subjects were participants from 3 sites (Columbia University, Rush University, and the University of Pennsylvania) in the Consortium on Risk for Early Onset Parkinson's Disease (CORE-PD) who had an age at onset < 51 years. The analyses presented here focus on glucocerebrosidase (GBA), leucine-rich repeat kinase 2 (LRRK2), and parkin (PRKN) mutation carriers. Mutation carrier status, demographic data, and disease characteristics in individuals who did and did not enroll in DBS were analyzed. The association between mutation status and DBS placement was assessed in logistic regression models.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Patients who had PD with either GBA, LRRK2, or PRKN mutations were more common in the DBS group (n = 99) compared with the non-DBS group (n = 684; 26.5% vs. 16.8%, respectively; P = 0.02). In a multivariate logistic regression model, GBA mutation status (odds ratio, 2.1; 95% confidence interval, 1.0-4.3; P = 0.05) was associated with DBS surgery enrollment. However, when dyskinesia was included in the multivariate logistic regression model, dyskinesia had a strong association with DBS placement (odds ratio, 3.8; 95% confidence interval, 1.9-7.3; P < 0.0001), whereas the association between GBA mutation status and DBS placement did not persist (P = 0.25).</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">DBS populations are enriched with genetic mutation carriers. The effect of genetic mutation carriers on DBS outcomes warrants further exploration.</AbstractText>
</Abstract>
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<LastName>Pal</LastName>
<ForeName>Gian D</ForeName>
<Initials>GD</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</Affiliation>
</AffiliationInfo>
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<LastName>Hall</LastName>
<ForeName>Deborah</ForeName>
<Initials>D</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</Affiliation>
</AffiliationInfo>
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<LastName>Ouyang</LastName>
<ForeName>Bichun</ForeName>
<Initials>B</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</Affiliation>
</AffiliationInfo>
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<LastName>Phelps</LastName>
<ForeName>Jessica</ForeName>
<Initials>J</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Alcalay</LastName>
<ForeName>Roy</ForeName>
<Initials>R</Initials>
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<Affiliation>Department of Neurology and the Taub Institute, Columbia University Medical Center, New York, NY, USA.</Affiliation>
</AffiliationInfo>
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<ForeName>Michael W</ForeName>
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<AffiliationInfo>
<Affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.</Affiliation>
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<LastName>Nichols</LastName>
<ForeName>William C</ForeName>
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<AffiliationInfo>
<Affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.</Affiliation>
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<Initials>L</Initials>
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</AffiliationInfo>
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<AffiliationInfo>
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</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Blasucci</LastName>
<ForeName>Lucia</ForeName>
<Initials>L</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Goetz</LastName>
<ForeName>Christopher G</ForeName>
<Initials>CG</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Comella</LastName>
<ForeName>Cynthia</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Colcher</LastName>
<ForeName>Amy</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>PRKNson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania, USA.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Gan-Or</LastName>
<ForeName>Ziv</ForeName>
<Initials>Z</Initials>
<AffiliationInfo>
<Affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Rouleau</LastName>
<ForeName>Guy A</ForeName>
<Initials>GA</Initials>
<AffiliationInfo>
<Affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada; The Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Marder</LastName>
<ForeName>Karen</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology and the Taub Institute, Columbia University Medical Center, New York, NY, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<CollectiveName>Consortium on Risk for Early Onset Parkinson's Disease (CORE-PD) Investigators</CollectiveName>
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<KeywordList Owner="NOTNLM">
<Keyword MajorTopicYN="N">Parkinson's disease</Keyword>
<Keyword MajorTopicYN="N">deep brain stimulation (DBS)</Keyword>
<Keyword MajorTopicYN="N">glucocerebrosidase (GBA)</Keyword>
<Keyword MajorTopicYN="N">leucine-rich repeat kinase 2 (LRRK2)</Keyword>
<Keyword MajorTopicYN="N">parkin (PRKN)</Keyword>
</KeywordList>
<CoiStatement>The remaining authors report no sources of funding and no conflicts of interest.</CoiStatement>
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