GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder
Identifieur interne : 000052 ( Pmc/Curation ); précédent : 000051; suivant : 000053GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder
Auteurs : Ziv Gan-Or [Canada] ; Anat Mirelman [Israël] ; Ronald B. Postuma [Canada] ; Isabelle Arnulf [France] ; Anat Bar-Shira [Israël] ; Yves Dauvilliers [France] ; Alex Desautels [Canada] ; Jean-François Gagnon [Canada] ; Claire S. Leblond [Canada] ; Birgit Frauscher [Autriche] ; Roy N. Alcalay [États-Unis] ; Rachel Saunders-Pullman [États-Unis] ; Susan B. Bressman [États-Unis] ; Karen Marder [États-Unis] ; Christelle Monaca [France] ; Birgit Högl [Autriche] ; Avi Orr-Urtreger [Israël] ; Patrick A. Dion [Canada] ; Jacques Y. Montplaisir [Canada] ; Nir Giladi [Israël] ; Guy A. Rouleau [Canada]Source :
- Annals of Clinical and Translational Neurology [ 2328-9503 ] ; 2015.
Abstract
Rapid eye movement sleep behavior disorder and
Url:
DOI: 10.1002/acn3.228
PubMed: 26401515
PubMed Central: 4574811
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<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
<affiliation wicri:level="2"><nlm:aff id="au13"><institution>Department of Neurology, Icahn School of Medicine at Mount Sinai</institution>
<addr-line>New York, New York</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>New York</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="au14"><institution>Department of Neurology, Albert Einstein College of Medicine Bronx</institution>
<addr-line>New York, New York</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B" last="Bressman">Susan B. Bressman</name>
<affiliation wicri:level="2"><nlm:aff id="au15"><institution>Department of Neurology, Beth Israel Medical Center</institution>
<addr-line>New York, New York</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>New York</wicri:cityArea>
</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:aff id="au16"><institution>Columbia Presbyterian Medical Center, Columbia University</institution>
<addr-line>New York, New York</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Monaca, Christelle" sort="Monaca, Christelle" uniqKey="Monaca C" first="Christelle" last="Monaca">Christelle Monaca</name>
<affiliation wicri:level="1"><nlm:aff id="au17"><institution>Department of clinical neurophysiology and sleep center, University Lille north of France, CHU Lille</institution>
<addr-line>Lille, France</addr-line>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Lille</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name>
<affiliation wicri:level="1"><nlm:aff id="au11"><institution>Sleep Disorders Clinic, Department of Neurology, Innsbruck Medical University</institution>
<addr-line>Innsbruck, Austria</addr-line>
</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Innsbruck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name>
<affiliation wicri:level="1"><nlm:aff id="au6"><institution>The Genetic Institute, Tel-Aviv Sourasky Medical Center</institution>
<addr-line>Tel-Aviv, Israel</addr-line>
</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au18"><institution>The Sackler Faculty of Medicine, Tel-Aviv University</institution>
<addr-line>Tel-Aviv, Israel</addr-line>
</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name>
<affiliation wicri:level="1"><nlm:aff id="au1"><institution>Montreal Neurological Institute, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal, Quebec</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au2"><institution>Department of Human Genetics, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal, Quebec</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au19"><institution>Department of Neurology and Neurosurgery, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal, Quebec</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Montplaisir, Jacques Y" sort="Montplaisir, Jacques Y" uniqKey="Montplaisir J" first="Jacques Y" last="Montplaisir">Jacques Y. Montplaisir</name>
<affiliation wicri:level="1"><nlm:aff id="au8"><institution>Centre d’Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal, Quebec</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au20"><institution>Department of Psychiatry, Université de Montréal</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal, Quebec</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name>
<affiliation wicri:level="1"><nlm:aff id="au3"><institution>Department of Neurology, Tel-Aviv Sourasky Medical Center</institution>
<addr-line>Tel-Aviv, Israel</addr-line>
</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au18"><institution>The Sackler Faculty of Medicine, Tel-Aviv University</institution>
<addr-line>Tel-Aviv, Israel</addr-line>
</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</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="1"><nlm:aff id="au1"><institution>Montreal Neurological Institute, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal, Quebec</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au2"><institution>Department of Human Genetics, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal, Quebec</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au19"><institution>Department of Neurology and Neurosurgery, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal, Quebec</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Annals of Clinical and Translational Neurology</title>
<idno type="ISSN">2328-9503</idno>
<idno type="eISSN">2328-9503</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>Rapid eye movement sleep behavior disorder and <italic>GBA</italic>
mutations are both associated with Parkinson's disease. The <italic>GBA</italic>
gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (<italic>n</italic>
= 265), and compared to controls (<italic>n</italic>
= 2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinson's disease cohort (<italic>n</italic>
= 120). <italic>GBA</italic>
mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, <italic>P </italic>
<<italic> </italic>
0.0001) for rapid eye movement sleep behavior disorder, and among Parkinson's disease patients, the OR for mutation carriers to have probable rapid eye movement sleep behavior disorder was 3.13 (<italic>P </italic>
=<italic> </italic>
0.039). These results demonstrate that rapid eye movement sleep behavior disorder is associated with <italic>GBA</italic>
mutations, and that combining genetic and prodromal data may assist in identifying individuals susceptible to Parkinson's disease.</p>
</div>
</front>
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</TEI>
<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Ann Clin Transl Neurol</journal-id>
<journal-id journal-id-type="iso-abbrev">Ann Clin Transl Neurol</journal-id>
<journal-id journal-id-type="publisher-id">acn3</journal-id>
<journal-title-group><journal-title>Annals of Clinical and Translational Neurology</journal-title>
</journal-title-group>
<issn pub-type="ppub">2328-9503</issn>
<issn pub-type="epub">2328-9503</issn>
<publisher><publisher-name>John Wiley & Sons, Ltd</publisher-name>
<publisher-loc>Chichester, UK</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">26401515</article-id>
<article-id pub-id-type="pmc">4574811</article-id>
<article-id pub-id-type="doi">10.1002/acn3.228</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Brief Communication</subject>
</subj-group>
</article-categories>
<title-group><article-title>GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Gan-Or</surname>
<given-names>Ziv</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="aff" rid="au2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mirelman</surname>
<given-names>Anat</given-names>
</name>
<xref ref-type="aff" rid="au3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Postuma</surname>
<given-names>Ronald B</given-names>
</name>
<xref ref-type="aff" rid="au4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Arnulf</surname>
<given-names>Isabelle</given-names>
</name>
<xref ref-type="aff" rid="au5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bar-Shira</surname>
<given-names>Anat</given-names>
</name>
<xref ref-type="aff" rid="au6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dauvilliers</surname>
<given-names>Yves</given-names>
</name>
<xref ref-type="aff" rid="au7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Desautels</surname>
<given-names>Alex</given-names>
</name>
<xref ref-type="aff" rid="au8">8</xref>
<xref ref-type="aff" rid="au9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gagnon</surname>
<given-names>Jean-François</given-names>
</name>
<xref ref-type="aff" rid="au8">8</xref>
<xref ref-type="aff" rid="au10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Leblond</surname>
<given-names>Claire S</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="aff" rid="au2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Frauscher</surname>
<given-names>Birgit</given-names>
</name>
<xref ref-type="aff" rid="au11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Alcalay</surname>
<given-names>Roy N</given-names>
</name>
<xref ref-type="aff" rid="au12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saunders-Pullman</surname>
<given-names>Rachel</given-names>
</name>
<xref ref-type="aff" rid="au13">13</xref>
<xref ref-type="aff" rid="au14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bressman</surname>
<given-names>Susan B</given-names>
</name>
<xref ref-type="aff" rid="au15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Marder</surname>
<given-names>Karen</given-names>
</name>
<xref ref-type="aff" rid="au16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Monaca</surname>
<given-names>Christelle</given-names>
</name>
<xref ref-type="aff" rid="au17">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Högl</surname>
<given-names>Birgit</given-names>
</name>
<xref ref-type="aff" rid="au11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Orr-Urtreger</surname>
<given-names>Avi</given-names>
</name>
<xref ref-type="aff" rid="au6">6</xref>
<xref ref-type="aff" rid="au18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dion</surname>
<given-names>Patrick A</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="aff" rid="au2">2</xref>
<xref ref-type="aff" rid="au19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Montplaisir</surname>
<given-names>Jacques Y</given-names>
</name>
<xref ref-type="aff" rid="au8">8</xref>
<xref ref-type="aff" rid="au20">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Giladi</surname>
<given-names>Nir</given-names>
</name>
<xref ref-type="aff" rid="au3">3</xref>
<xref ref-type="aff" rid="au18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rouleau</surname>
<given-names>Guy A</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="aff" rid="au2">2</xref>
<xref ref-type="aff" rid="au19">19</xref>
</contrib>
<aff id="au1"><label>1</label>
<institution>Montreal Neurological Institute, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</aff>
<aff id="au2"><label>2</label>
<institution>Department of Human Genetics, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</aff>
<aff id="au3"><label>3</label>
<institution>Department of Neurology, Tel-Aviv Sourasky Medical Center</institution>
<addr-line>Tel-Aviv, Israel</addr-line>
</aff>
<aff id="au4"><label>4</label>
<institution>Department of Neurology, Montreal General Hospital</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</aff>
<aff id="au5"><label>5</label>
<institution>Sleep Disorders Unit, Pitié Salpêtrière Hospital, Brain and Spine Institute and Sorbonne Universities, UPMC Paris 6 University</institution>
<addr-line>Paris, France</addr-line>
</aff>
<aff id="au6"><label>6</label>
<institution>The Genetic Institute, Tel-Aviv Sourasky Medical Center</institution>
<addr-line>Tel-Aviv, Israel</addr-line>
</aff>
<aff id="au7"><label>7</label>
<institution>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology, Hôpital-Gui-de Chauliac, CHU Montpellier</institution>
<addr-line>Montpellier, France</addr-line>
</aff>
<aff id="au8"><label>8</label>
<institution>Centre d’Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</aff>
<aff id="au9"><label>9</label>
<institution>Department of Neurosciences, Université de Montréal</institution>
<addr-line>Montréal, Canada</addr-line>
</aff>
<aff id="au10"><label>10</label>
<institution>Département de psychologie, Université du Québec à Montréal</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</aff>
<aff id="au11"><label>11</label>
<institution>Sleep Disorders Clinic, Department of Neurology, Innsbruck Medical University</institution>
<addr-line>Innsbruck, Austria</addr-line>
</aff>
<aff id="au12"><label>12</label>
<institution>Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University</institution>
<addr-line>New York, New York</addr-line>
</aff>
<aff id="au13"><label>13</label>
<institution>Department of Neurology, Icahn School of Medicine at Mount Sinai</institution>
<addr-line>New York, New York</addr-line>
</aff>
<aff id="au14"><label>14</label>
<institution>Department of Neurology, Albert Einstein College of Medicine Bronx</institution>
<addr-line>New York, New York</addr-line>
</aff>
<aff id="au15"><label>15</label>
<institution>Department of Neurology, Beth Israel Medical Center</institution>
<addr-line>New York, New York</addr-line>
</aff>
<aff id="au16"><label>16</label>
<institution>Columbia Presbyterian Medical Center, Columbia University</institution>
<addr-line>New York, New York</addr-line>
</aff>
<aff id="au17"><label>17</label>
<institution>Department of clinical neurophysiology and sleep center, University Lille north of France, CHU Lille</institution>
<addr-line>Lille, France</addr-line>
</aff>
<aff id="au18"><label>18</label>
<institution>The Sackler Faculty of Medicine, Tel-Aviv University</institution>
<addr-line>Tel-Aviv, Israel</addr-line>
</aff>
<aff id="au19"><label>19</label>
<institution>Department of Neurology and Neurosurgery, McGill University</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</aff>
<aff id="au20"><label>20</label>
<institution>Department of Psychiatry, Université de Montréal</institution>
<addr-line>Montréal, Quebec, Canada</addr-line>
</aff>
</contrib-group>
<author-notes><corresp id="cor1"><bold>Correspondence</bold>
Guy A. Rouleau, Montréal Neurological Institute and Hospital, 3801, University Street, Office 636, Montréal, Québec, Canada H3A 2B4. Tel: +1-514-398-2690; Fax: +1-514-398-8248; E-mail: <email>guy.rouleau@mcgill.ca</email>
, Ziv Gan-Or, Department of Human Genetics, Montréal Neurological Institute and Hospital, McGill University, 1033 Pine Avenue, West, Ludmer Pavilion, Room 327, Montreal, Quebec, Canada H3A 1A1. Tel: +1-514-398-6821; Fax: +1-514-398-8248; E-mail: <email>ziv.gan-or@mail.mcgill.ca</email>
</corresp>
<fn><p><bold>Funding Information</bold>
This work was financially supported by the Canadian Institutes of Health Research (CIHR) and by the Michael J Fox Foundation.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><month>9</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="epub"><day>31</day>
<month>7</month>
<year>2015</year>
</pub-date>
<volume>2</volume>
<issue>9</issue>
<fpage>941</fpage>
<lpage>945</lpage>
<history><date date-type="received"><day>09</day>
<month>6</month>
<year>2015</year>
</date>
<date date-type="rev-recd"><day>29</day>
<month>6</month>
<year>2015</year>
</date>
<date date-type="accepted"><day>30</day>
<month>6</month>
<year>2015</year>
</date>
</history>
<permissions><copyright-statement>© 2015 The Authors. <italic>Annals of Clinical and Translational Neurology</italic>
published by Wiley Periodicals, Inc on behalf of American Neurological Association.</copyright-statement>
<copyright-year>2015</copyright-year>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-nd/4.0/"><license-p>This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.</license-p>
</license>
</permissions>
<abstract><p>Rapid eye movement sleep behavior disorder and <italic>GBA</italic>
mutations are both associated with Parkinson's disease. The <italic>GBA</italic>
gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (<italic>n</italic>
= 265), and compared to controls (<italic>n</italic>
= 2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinson's disease cohort (<italic>n</italic>
= 120). <italic>GBA</italic>
mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, <italic>P </italic>
<<italic> </italic>
0.0001) for rapid eye movement sleep behavior disorder, and among Parkinson's disease patients, the OR for mutation carriers to have probable rapid eye movement sleep behavior disorder was 3.13 (<italic>P </italic>
=<italic> </italic>
0.039). These results demonstrate that rapid eye movement sleep behavior disorder is associated with <italic>GBA</italic>
mutations, and that combining genetic and prodromal data may assist in identifying individuals susceptible to Parkinson's disease.</p>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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