Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease
Identifieur interne : 000342 ( Main/Exploration ); précédent : 000341; suivant : 000343Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease
Auteurs : Gian D. Pal [États-Unis] ; Deborah Hall [États-Unis] ; Bichun Ouyang [États-Unis] ; Jessica Phelps [États-Unis] ; Roy Alcalay [États-Unis] ; Michael W. Pauciulo [États-Unis] ; William C. Nichols [États-Unis] ; Lorraine Clark [États-Unis] ; Helen Mejia-Santana [États-Unis] ; Lucia Blasucci [États-Unis] ; Christopher G. Goetz [États-Unis] ; Cynthia Comella [États-Unis] ; Amy Colcher [États-Unis] ; Ziv Gan-Or [Canada] ; Guy A. Rouleau [Canada] ; Karen Marder [États-Unis]Source :
- Movement disorders clinical practice [ 2330-1619 ] ; 2016.
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.
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
Patients who had PD with either
DBS populations are enriched with genetic mutation carriers. The effect of genetic mutation carriers on DBS outcomes warrants further exploration.
Url:
DOI: 10.1002/mdc3.12309
PubMed: 27709117
PubMed Central: 5047521
Affiliations:
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<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="A2">Department of Neurology and the Taub Institute, Columbia University Medical Center, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology and the Taub Institute, Columbia University Medical Center, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders clinical practice</title>
<idno type="eISSN">2330-1619</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Objective</title>
<p id="P1">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.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">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 <italic>glucocerebrosidase</italic>
(<italic>GBA</italic>
), <italic>leucine-rich repeat kinase 2</italic>
(<italic>LRRK2</italic>
), and <italic>parkin</italic>
(<italic>PRKN</italic>
) 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.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">Patients who had PD with either <italic>GBA</italic>
, <italic>LRRK2</italic>
, or <italic>PRKN</italic>
mutations were more common in the DBS group (n = 99) compared with the non-DBS group (n = 684; 26.5% vs. 16.8%, respectively; <italic>P</italic>
= 0.02). In a multivariate logistic regression model, <italic>GBA</italic>
mutation status (odds ratio, 2.1; 95% confidence interval, 1.0–4.3; <italic>P</italic>
= 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; <italic>P</italic>
< 0.0001), whereas the association between GBA mutation status and DBS placement did not persist (<italic>P</italic>
= 0.25).</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">DBS populations are enriched with genetic mutation carriers. The effect of genetic mutation carriers on DBS outcomes warrants further exploration.</p>
</sec>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>États-Unis</li>
</country>
<region><li>Pennsylvanie</li>
<li>Québec</li>
<li>État de New York</li>
</region>
<settlement><li>Montréal</li>
</settlement>
<orgName><li>Université McGill</li>
</orgName>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Pal, Gian D" sort="Pal, Gian D" uniqKey="Pal G" first="Gian D." last="Pal">Gian D. Pal</name>
</noRegion>
<name sortKey="Alcalay, Roy" sort="Alcalay, Roy" uniqKey="Alcalay R" first="Roy" last="Alcalay">Roy Alcalay</name>
<name sortKey="Blasucci, Lucia" sort="Blasucci, Lucia" uniqKey="Blasucci L" first="Lucia" last="Blasucci">Lucia Blasucci</name>
<name sortKey="Clark, Lorraine" sort="Clark, Lorraine" uniqKey="Clark L" first="Lorraine" last="Clark">Lorraine Clark</name>
<name sortKey="Colcher, Amy" sort="Colcher, Amy" uniqKey="Colcher A" first="Amy" last="Colcher">Amy Colcher</name>
<name sortKey="Comella, Cynthia" sort="Comella, Cynthia" uniqKey="Comella C" first="Cynthia" last="Comella">Cynthia Comella</name>
<name sortKey="Goetz, Christopher G" sort="Goetz, Christopher G" uniqKey="Goetz C" first="Christopher G." last="Goetz">Christopher G. Goetz</name>
<name sortKey="Hall, Deborah" sort="Hall, Deborah" uniqKey="Hall D" first="Deborah" last="Hall">Deborah Hall</name>
<name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name>
<name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<name sortKey="Ouyang, Bichun" sort="Ouyang, Bichun" uniqKey="Ouyang B" first="Bichun" last="Ouyang">Bichun Ouyang</name>
<name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
<name sortKey="Phelps, Jessica" sort="Phelps, Jessica" uniqKey="Phelps J" first="Jessica" last="Phelps">Jessica Phelps</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="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<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>
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