A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
Identifieur interne : 000768 ( Pmc/Curation ); précédent : 000767; suivant : 000769A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
Auteurs : Michael A. Nalls ; Raquel Duran ; Grisel Lopez ; Marzena Kurzawa-Akanbi ; Ian G. Mckeith ; Patrick F. Chinnery ; Christopher M. Morris ; Jessie Theuns ; David Crosiers ; Patrick Cras ; Sebastiaan Engelborghs ; Peter Paul De Deyn ; Christine Van Broeckhoven ; David M. A. Mann ; Julie Snowden ; Stuart Pickering-Brown ; Nicola Halliwell ; Yvonne Davidson ; Linda Gibbons ; Jenny Harris ; Una-Marie Sheerin ; Jose Bras ; John Hardy ; Lorraine Clark ; Karen Marder ; Lawrence S. Honig ; Daniela Berg ; Walter Maetzler ; Kathrin Brockmann ; Thomas Gasser ; Fabiana Novellino ; Aldo Quattrone ; Grazia Annesi ; Elvira Valeria De Marco ; Ekaterina Rogaeva ; Mario Masellis ; Sandra E. Black ; Juan M. Bilbao ; Tatiana Foroud ; Bernardino Ghetti ; William C. Nichols ; Nathan Pankratz ; Glenda Halliday ; Suzanne Lesage ; Stephan Klebe ; Alexandra Durr ; Charles Duyckaerts ; Alexis Brice ; Benoit I. Giasson ; John Q. Trojanowski ; Howard I. Hurtig ; Nahid Tayebi ; Claudia Landazabal ; Melanie A. Knight ; Margaux Keller ; Andrew B. Singleton ; Tyra G. Wolfsberg ; Ellen SidranskySource :
- JAMA neurology [ 2168-6149 ] ; 2013.
Abstract
While mutations in glucocerebrosidase (
To establish whether
We compared genotype data on patients and controls from 11 centers. Data concerning demographics, age at onset, disease duration, and clinical and pathological features were collected when available. We conducted pooled analyses using logistic regression to investigate
Eleven centers from sites around the world performing genotyping.
Seven hundred twenty-one cases met diagnostic criteria for DLB and 151 had PD with dementia. We compared these cases with 1962 controls from the same centers matched for age, sex, and ethnicity.
Frequency of
We found a significant association between
Mutations in
Url:
DOI: 10.1001/jamaneurol.2013.1925
PubMed: 23588557
PubMed Central: 3841974
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Mckeith</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Morris, Christopher M" sort="Morris, Christopher M" uniqKey="Morris C" first="Christopher M." last="Morris">Christopher M. Morris</name></author><author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name></author><author><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name></author><author><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name></author><author><name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name></author><author><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name></author><author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name></author><author><name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name></author><author><name sortKey="Pickering Brown, Stuart" sort="Pickering Brown, Stuart" uniqKey="Pickering Brown S" first="Stuart" last="Pickering-Brown">Stuart Pickering-Brown</name></author><author><name sortKey="Halliwell, Nicola" sort="Halliwell, Nicola" uniqKey="Halliwell N" first="Nicola" last="Halliwell">Nicola Halliwell</name></author><author><name sortKey="Davidson, Yvonne" sort="Davidson, Yvonne" uniqKey="Davidson Y" first="Yvonne" last="Davidson">Yvonne Davidson</name></author><author><name sortKey="Gibbons, Linda" sort="Gibbons, Linda" uniqKey="Gibbons L" first="Linda" last="Gibbons">Linda Gibbons</name></author><author><name sortKey="Harris, Jenny" sort="Harris, Jenny" uniqKey="Harris J" first="Jenny" last="Harris">Jenny Harris</name></author><author><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Clark, Lorraine" sort="Clark, Lorraine" uniqKey="Clark L" first="Lorraine" last="Clark">Lorraine Clark</name></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name></author><author><name sortKey="Honig, Lawrence S" sort="Honig, Lawrence S" uniqKey="Honig L" first="Lawrence S." last="Honig">Lawrence S. Honig</name></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name></author><author><name sortKey="Maetzler, Walter" sort="Maetzler, Walter" uniqKey="Maetzler W" first="Walter" last="Maetzler">Walter Maetzler</name></author><author><name sortKey="Brockmann, Kathrin" sort="Brockmann, Kathrin" uniqKey="Brockmann K" first="Kathrin" last="Brockmann">Kathrin Brockmann</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Novellino, Fabiana" sort="Novellino, Fabiana" uniqKey="Novellino F" first="Fabiana" last="Novellino">Fabiana Novellino</name></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name></author><author><name sortKey="De Marco, Elvira Valeria" sort="De Marco, Elvira Valeria" uniqKey="De Marco E" first="Elvira Valeria" last="De Marco">Elvira Valeria De Marco</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author><author><name sortKey="Masellis, Mario" sort="Masellis, Mario" uniqKey="Masellis M" first="Mario" last="Masellis">Mario Masellis</name></author><author><name sortKey="Black, Sandra E" sort="Black, Sandra E" uniqKey="Black S" first="Sandra E." last="Black">Sandra E. Black</name></author><author><name sortKey="Bilbao, Juan M" sort="Bilbao, Juan M" uniqKey="Bilbao J" first="Juan M." last="Bilbao">Juan M. Bilbao</name></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name></author><author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name></author><author><name sortKey="Halliday, Glenda" sort="Halliday, Glenda" uniqKey="Halliday G" first="Glenda" last="Halliday">Glenda Halliday</name></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Duyckaerts, Charles" sort="Duyckaerts, Charles" uniqKey="Duyckaerts C" first="Charles" last="Duyckaerts">Charles Duyckaerts</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Giasson, Benoit I" sort="Giasson, Benoit I" uniqKey="Giasson B" first="Benoit I." last="Giasson">Benoit I. Giasson</name></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name></author><author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I." last="Hurtig">Howard I. Hurtig</name></author><author><name sortKey="Tayebi, Nahid" sort="Tayebi, Nahid" uniqKey="Tayebi N" first="Nahid" last="Tayebi">Nahid Tayebi</name></author><author><name sortKey="Landazabal, Claudia" sort="Landazabal, Claudia" uniqKey="Landazabal C" first="Claudia" last="Landazabal">Claudia Landazabal</name></author><author><name sortKey="Knight, Melanie A" sort="Knight, Melanie A" uniqKey="Knight M" first="Melanie A." last="Knight">Melanie A. Knight</name></author><author><name sortKey="Keller, Margaux" sort="Keller, Margaux" uniqKey="Keller M" first="Margaux" last="Keller">Margaux Keller</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Wolfsberg, Tyra G" sort="Wolfsberg, Tyra G" uniqKey="Wolfsberg T" first="Tyra G." last="Wolfsberg">Tyra G. Wolfsberg</name></author><author><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23588557</idno><idno type="pmc">3841974</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841974</idno><idno type="RBID">PMC:3841974</idno><idno type="doi">10.1001/jamaneurol.2013.1925</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">000768</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000768</idno><idno type="wicri:Area/Pmc/Curation">000768</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000768</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies</title><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name></author><author><name sortKey="Duran, Raquel" sort="Duran, Raquel" uniqKey="Duran R" first="Raquel" last="Duran">Raquel Duran</name></author><author><name sortKey="Lopez, Grisel" sort="Lopez, Grisel" uniqKey="Lopez G" first="Grisel" last="Lopez">Grisel Lopez</name></author><author><name sortKey="Kurzawa Akanbi, Marzena" sort="Kurzawa Akanbi, Marzena" uniqKey="Kurzawa Akanbi M" first="Marzena" last="Kurzawa-Akanbi">Marzena Kurzawa-Akanbi</name></author><author><name sortKey="Mckeith, Ian G" sort="Mckeith, Ian G" uniqKey="Mckeith I" first="Ian G." last="Mckeith">Ian G. Mckeith</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Morris, Christopher M" sort="Morris, Christopher M" uniqKey="Morris C" first="Christopher M." last="Morris">Christopher M. Morris</name></author><author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name></author><author><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name></author><author><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name></author><author><name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name></author><author><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name></author><author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name></author><author><name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name></author><author><name sortKey="Pickering Brown, Stuart" sort="Pickering Brown, Stuart" uniqKey="Pickering Brown S" first="Stuart" last="Pickering-Brown">Stuart Pickering-Brown</name></author><author><name sortKey="Halliwell, Nicola" sort="Halliwell, Nicola" uniqKey="Halliwell N" first="Nicola" last="Halliwell">Nicola Halliwell</name></author><author><name sortKey="Davidson, Yvonne" sort="Davidson, Yvonne" uniqKey="Davidson Y" first="Yvonne" last="Davidson">Yvonne Davidson</name></author><author><name sortKey="Gibbons, Linda" sort="Gibbons, Linda" uniqKey="Gibbons L" first="Linda" last="Gibbons">Linda Gibbons</name></author><author><name sortKey="Harris, Jenny" sort="Harris, Jenny" uniqKey="Harris J" first="Jenny" last="Harris">Jenny Harris</name></author><author><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Clark, Lorraine" sort="Clark, Lorraine" uniqKey="Clark L" first="Lorraine" last="Clark">Lorraine Clark</name></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name></author><author><name sortKey="Honig, Lawrence S" sort="Honig, Lawrence S" uniqKey="Honig L" first="Lawrence S." last="Honig">Lawrence S. Honig</name></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name></author><author><name sortKey="Maetzler, Walter" sort="Maetzler, Walter" uniqKey="Maetzler W" first="Walter" last="Maetzler">Walter Maetzler</name></author><author><name sortKey="Brockmann, Kathrin" sort="Brockmann, Kathrin" uniqKey="Brockmann K" first="Kathrin" last="Brockmann">Kathrin Brockmann</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Novellino, Fabiana" sort="Novellino, Fabiana" uniqKey="Novellino F" first="Fabiana" last="Novellino">Fabiana Novellino</name></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name></author><author><name sortKey="De Marco, Elvira Valeria" sort="De Marco, Elvira Valeria" uniqKey="De Marco E" first="Elvira Valeria" last="De Marco">Elvira Valeria De Marco</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author><author><name sortKey="Masellis, Mario" sort="Masellis, Mario" uniqKey="Masellis M" first="Mario" last="Masellis">Mario Masellis</name></author><author><name sortKey="Black, Sandra E" sort="Black, Sandra E" uniqKey="Black S" first="Sandra E." last="Black">Sandra E. Black</name></author><author><name sortKey="Bilbao, Juan M" sort="Bilbao, Juan M" uniqKey="Bilbao J" first="Juan M." last="Bilbao">Juan M. Bilbao</name></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name></author><author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name></author><author><name sortKey="Halliday, Glenda" sort="Halliday, Glenda" uniqKey="Halliday G" first="Glenda" last="Halliday">Glenda Halliday</name></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Duyckaerts, Charles" sort="Duyckaerts, Charles" uniqKey="Duyckaerts C" first="Charles" last="Duyckaerts">Charles Duyckaerts</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Giasson, Benoit I" sort="Giasson, Benoit I" uniqKey="Giasson B" first="Benoit I." last="Giasson">Benoit I. Giasson</name></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name></author><author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I." last="Hurtig">Howard I. Hurtig</name></author><author><name sortKey="Tayebi, Nahid" sort="Tayebi, Nahid" uniqKey="Tayebi N" first="Nahid" last="Tayebi">Nahid Tayebi</name></author><author><name sortKey="Landazabal, Claudia" sort="Landazabal, Claudia" uniqKey="Landazabal C" first="Claudia" last="Landazabal">Claudia Landazabal</name></author><author><name sortKey="Knight, Melanie A" sort="Knight, Melanie A" uniqKey="Knight M" first="Melanie A." last="Knight">Melanie A. Knight</name></author><author><name sortKey="Keller, Margaux" sort="Keller, Margaux" uniqKey="Keller M" first="Margaux" last="Keller">Margaux Keller</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Wolfsberg, Tyra G" sort="Wolfsberg, Tyra G" uniqKey="Wolfsberg T" first="Tyra G." last="Wolfsberg">Tyra G. Wolfsberg</name></author><author><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name></author></analytic><series><title level="j">JAMA neurology</title><idno type="ISSN">2168-6149</idno><idno type="eISSN">2168-6157</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Importance</title><p id="P1">While mutations in glucocerebrosidase (<italic>GBA1</italic>) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk factor for other Lewy body disorders.</p></sec><sec id="S2"><title>Objective</title><p id="P2">To establish whether <italic>GBA1</italic> mutations are a risk factor for dementia with Lewy bodies (DLB).</p></sec><sec id="S3"><title>Design</title><p id="P3">We compared genotype data on patients and controls from 11 centers. Data concerning demographics, age at onset, disease duration, and clinical and pathological features were collected when available. We conducted pooled analyses using logistic regression to investigate <italic>GBA1</italic> mutation carrier status as predicting DLB or PD with dementia status, using common control subjects as a reference group. Random-effects meta-analyses were conducted to account for additional heterogeneity.</p></sec><sec id="S4"><title>Setting</title><p id="P4">Eleven centers from sites around the world performing genotyping.</p></sec><sec id="S5"><title>Participants</title><p id="P5">Seven hundred twenty-one cases met diagnostic criteria for DLB and 151 had PD with dementia. We compared these cases with 1962 controls from the same centers matched for age, sex, and ethnicity.</p></sec><sec id="S6"><title>Main Outcome Measures</title><p id="P6">Frequency of <italic>GBA1</italic> mutations in cases and controls.</p></sec><sec id="S7"><title>Results</title><p id="P7">We found a significant association between <italic>GBA1</italic> mutation carrier status and DLB, with an odds ratio of 8.28 (95% CI, 4.78–14.88). The odds ratio for PD with dementia was 6.48 (95% CI, 2.53–15.37). The mean age at diagnosis of DLB was earlier in <italic>GBA1</italic> mutation carriers than in noncarriers (63.5 vs 68.9 years; <italic>P<</italic>.001), with higher disease severity scores.</p></sec><sec id="S8"><title>Conclusions and Relevance</title><p id="P8">Mutations in <italic>GBA1</italic> are a significant risk factor for DLB. <italic>GBA1</italic> mutations likely play an even larger role in the genetic etiology of DLB than in PD, providing insight into the role of glucocerebrosidase in Lewy body disease.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101589536</journal-id><journal-id journal-id-type="pubmed-jr-id">40865</journal-id><journal-id journal-id-type="nlm-ta">JAMA Neurol</journal-id><journal-id journal-id-type="iso-abbrev">JAMA Neurol</journal-id><journal-title-group><journal-title>JAMA neurology</journal-title></journal-title-group><issn pub-type="ppub">2168-6149</issn><issn pub-type="epub">2168-6157</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23588557</article-id><article-id pub-id-type="pmc">3841974</article-id><article-id pub-id-type="doi">10.1001/jamaneurol.2013.1925</article-id><article-id pub-id-type="manuscript">NIHMS528249</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Nalls</surname><given-names>Michael A.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Duran</surname><given-names>Raquel</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Lopez</surname><given-names>Grisel</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Kurzawa-Akanbi</surname><given-names>Marzena</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>McKeith</surname><given-names>Ian G.</given-names><prefix>Dr.</prefix></name><degrees>FMedSci</degrees></contrib><contrib contrib-type="author"><name><surname>Chinnery</surname><given-names>Patrick F.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Morris</surname><given-names>Christopher M.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Theuns</surname><given-names>Jessie</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Crosiers</surname><given-names>David</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Cras</surname><given-names>Patrick</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Engelborghs</surname><given-names>Sebastiaan</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>De Deyn</surname><given-names>Peter Paul</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Van Broeckhoven</surname><given-names>Christine</given-names><prefix>Dr.</prefix></name><degrees>PhD, DSc</degrees></contrib><contrib contrib-type="author"><name><surname>Mann</surname><given-names>David M. A.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Snowden</surname><given-names>Julie</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Pickering-Brown</surname><given-names>Stuart</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Halliwell</surname><given-names>Nicola</given-names><prefix>Ms.</prefix></name><degrees>BSc</degrees></contrib><contrib contrib-type="author"><name><surname>Davidson</surname><given-names>Yvonne</given-names><prefix>Ms.</prefix></name><degrees>MSc</degrees></contrib><contrib contrib-type="author"><name><surname>Gibbons</surname><given-names>Linda</given-names><prefix>Ms.</prefix></name><degrees>MSc</degrees></contrib><contrib contrib-type="author"><name><surname>Harris</surname><given-names>Jenny</given-names><prefix>Ms.</prefix></name><degrees>BSc</degrees></contrib><contrib contrib-type="author"><name><surname>Sheerin</surname><given-names>Una-Marie</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Bras</surname><given-names>Jose</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Hardy</surname><given-names>John</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Clark</surname><given-names>Lorraine</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Marder</surname><given-names>Karen</given-names><prefix>Dr.</prefix></name><degrees>MD, MPH</degrees></contrib><contrib contrib-type="author"><name><surname>Honig</surname><given-names>Lawrence S.</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Berg</surname><given-names>Daniela</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Maetzler</surname><given-names>Walter</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Brockmann</surname><given-names>Kathrin</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Gasser</surname><given-names>Thomas</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Novellino</surname><given-names>Fabiana</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Quattrone</surname><given-names>Aldo</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Annesi</surname><given-names>Grazia</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>De Marco</surname><given-names>Elvira Valeria</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Rogaeva</surname><given-names>Ekaterina</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Masellis</surname><given-names>Mario</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Black</surname><given-names>Sandra E.</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Bilbao</surname><given-names>Juan M.</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Foroud</surname><given-names>Tatiana</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Ghetti</surname><given-names>Bernardino</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Nichols</surname><given-names>William C.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Pankratz</surname><given-names>Nathan</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Halliday</surname><given-names>Glenda</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Lesage</surname><given-names>Suzanne</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Klebe</surname><given-names>Stephan</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Durr</surname><given-names>Alexandra</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Duyckaerts</surname><given-names>Charles</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Alexis</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Giasson</surname><given-names>Benoit I.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Trojanowski</surname><given-names>John Q.</given-names><prefix>Dr.</prefix></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Hurtig</surname><given-names>Howard I.</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Tayebi</surname><given-names>Nahid</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Landazabal</surname><given-names>Claudia</given-names><prefix>Ms.</prefix></name></contrib><contrib contrib-type="author"><name><surname>Knight</surname><given-names>Melanie A.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Keller</surname><given-names>Margaux</given-names><prefix>Ms.</prefix></name><degrees>BA</degrees></contrib><contrib contrib-type="author"><name><surname>Singleton</surname><given-names>Andrew B.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Wolfsberg</surname><given-names>Tyra G.</given-names><prefix>Dr.</prefix></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Sidransky</surname><given-names>Ellen</given-names><prefix>Dr.</prefix></name><degrees>MD</degrees></contrib><aff id="A1">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health (NIH) (Drs Nalls and Singleton and Ms Keller), and Section on Molecular Neurogenetics, Medical Genetics Branch (Drs Lopez, Tayebi, Knight, and Sidransky and Ms Landazabal) and Genome Technology Branch (Dr Wolfsberg), National Human Genome Research Institute, NIH, Bethesda, Maryland; Reta Lila Weston Research Laboratories (Drs Duran and Hardy) and Department of Molecular Neuroscience, Institute of Neurology, University College London (Drs Sheerin, Bras, and Hardy), London, England; Medical Toxicology Centre (Drs Kurzawa-Akanbi and Morris), Institute of Genetic Medicine (Drs Kurzawa-Akanbi and Chinnery), and Biomedical Research Centre (Dr McKeith), Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, England; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB (Drs Theuns, Crosiers, and Van Broeckhoven), and Institute Born-Bunge (Drs Theuns, Crosiers, Cras, Engelborghs, De Deyn, and Van Broeckhoven), University of Antwerp, and Department of Neurology and Memory Clinic, Hospital Network Antwerp, Middelheim and Hoge Beuken, (Drs Engelborghs and De Deyn), Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Edegem, Belgium (Drs Crosiers and Cras); Department of Neurology and Alzheimer Research Center, University Medical Center Groningen, Groningen, the Netherlands (Dr De Deyn); Institute of Brain, Behaviour, and Mental Health, University of Manchester, Manchester, England (Drs Mann, Snowden, and Pickering-Brown and Mss Halliwell, Davidson, Gibbons, and Harris); Department of Pathology and Cell Biology (Dr Clark) and the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain (Drs Clark, Marder, and Honig), Columbia University Medical Center, and Departments of Neurology (Drs Marder and Honig) and Psychiatry (Dr Marder) and Gertrude H. Sergievsky Center (Drs Marder and Honig), College of Physicians and Surgeons, Columbia University, New York, New York; Department of Neurodegeneration, Hertie Institute of Clinical Brain Research and German Center for Neurodegenerative Diseases, Tübingen, Germany (Drs Berg, Maetzler, Brockmann, and Gasser); Neuroimaging Research Unit, National Research Council (Drs Novellino and Quattrone), and Institute of Neurology, University Magna Graecia (Dr Quattrone), Catanzaro, Italy; Institute of Neurological Sciences, National Research Council, Cosenza, Italy (Drs Annesi and De Marco); Tanz Centre for Research in Neurodegenerative Diseases (Dr Rogaeva) and Division of Neurology, Department of Medicine (Drs Rogaeva, Masellis, and Black), University of Toronto, Toronto, Ontario, Canada; LC Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute (Drs Masellis and Black), and Department of Pathology (Dr Bilbao), Sunnybrook Health Sciences Centre, University of Toronto; Departments of Medical and Molecular Genetics (Dr Foroud) and Pathology and Laboratory Medicine (Dr Ghetti), Indiana University School of Medicine, Indianapolis; Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio (Dr Nichols); Department of Laboratory Medicine and Pathology, University of Minnesota School of Medicine, Minneapolis (Dr Pankratz); Neuroscience Research Australia and University of New South Wales, Randwick, Australia (Dr Halliday); Institut National de la Santé et de Recherche Médical, Unité Mixte de Recherche_S975, Centre de Recherche de l’Institut du Cerveau et de la Moelle Epinière (CRICM), F-75013, Université Pierre et Marie Curie Univ Paris 06, Unité Mixte de Recherche_S975, F-75013, and Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, F-75013, Paris, France (Drs Lesage, Klebe, Durr, Duyckaerts, and Brice); Assistance Publique–Hôpitaux de Paris, Department of Genetics and Cytogenetics, F-75013, Paris (Drs Klebe, Durr, and Brice); Department of Neuroscience, University of Florida College of Medicine, Gainsville (Dr Giasson); and Institute on Aging, Alzheimer’s Disease Center, and Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine (Dr Trojanowski), and Department of Neurology (Dr Hurtig), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania. Ms Landazabal is a student at Washington University, St Louis, Missouri. Ms Keller is a graduate student at Temple University, Philadelphia, Pennsylvania</aff></contrib-group><author-notes><corresp id="FN1">Correspondence: Ellen Sidransky, MD, Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bldg 35, Room 1A-213, 35 Convent Dr, MSC 3708, Bethesda, MD 20892 (<email>sidranse@mail.nih.gov</email>)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>11</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>6</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>27</day><month>11</month><year>2013</year></pub-date><volume>70</volume><issue>6</issue><elocation-id>10.1001/jamaneurol.2013.1925</elocation-id><permissions><copyright-statement>©2013 American Medical Association. All rights reserved.</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><sec id="S1"><title>Importance</title><p id="P1">While mutations in glucocerebrosidase (<italic>GBA1</italic>) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk factor for other Lewy body disorders.</p></sec><sec id="S2"><title>Objective</title><p id="P2">To establish whether <italic>GBA1</italic> mutations are a risk factor for dementia with Lewy bodies (DLB).</p></sec><sec id="S3"><title>Design</title><p id="P3">We compared genotype data on patients and controls from 11 centers. Data concerning demographics, age at onset, disease duration, and clinical and pathological features were collected when available. We conducted pooled analyses using logistic regression to investigate <italic>GBA1</italic> mutation carrier status as predicting DLB or PD with dementia status, using common control subjects as a reference group. Random-effects meta-analyses were conducted to account for additional heterogeneity.</p></sec><sec id="S4"><title>Setting</title><p id="P4">Eleven centers from sites around the world performing genotyping.</p></sec><sec id="S5"><title>Participants</title><p id="P5">Seven hundred twenty-one cases met diagnostic criteria for DLB and 151 had PD with dementia. We compared these cases with 1962 controls from the same centers matched for age, sex, and ethnicity.</p></sec><sec id="S6"><title>Main Outcome Measures</title><p id="P6">Frequency of <italic>GBA1</italic> mutations in cases and controls.</p></sec><sec id="S7"><title>Results</title><p id="P7">We found a significant association between <italic>GBA1</italic> mutation carrier status and DLB, with an odds ratio of 8.28 (95% CI, 4.78–14.88). The odds ratio for PD with dementia was 6.48 (95% CI, 2.53–15.37). The mean age at diagnosis of DLB was earlier in <italic>GBA1</italic> mutation carriers than in noncarriers (63.5 vs 68.9 years; <italic>P<</italic>.001), with higher disease severity scores.</p></sec><sec id="S8"><title>Conclusions and Relevance</title><p id="P8">Mutations in <italic>GBA1</italic> are a significant risk factor for DLB. <italic>GBA1</italic> mutations likely play an even larger role in the genetic etiology of DLB than in PD, providing insight into the role of glucocerebrosidase in Lewy body disease.</p></sec></abstract><funding-group><award-group><funding-source country="United States">National Human Genome Research Institute : NHGRI</funding-source><award-id>Z99 HG999999 || HG</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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