Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan
Identifieur interne : 000255 ( Main/Corpus ); précédent : 000254; suivant : 000256Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan
Auteurs : C. Huang ; Y. Wu-Chou ; S. Lai ; H. Chang ; T. Yeh ; Y. Weng ; R. Chen ; Y. Huang ; C. LuSource :
- European Journal of Neurology [ 1351-5101 ] ; 2011-10.
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- KwdEn :
Abstract
Background and purpose: The association between glucocerebrosidase (GBA) mutations and Parkinson’s disease (PD) is attracting increased attention worldwide. In patients of Chinese ethnicity, other than the common L444P mutation, a few mutations have been reported. However, the contribution of GBA to PD can be answered only by a thorough investigation of its mutations in a unique large population. Methods: We enrolled 1747 participants: 967 PD patients and 780 healthy individuals. We screened entire GBA coding regions and exon–intron boundaries in 30 randomly chosen PD patients, followed by testing five variants (L444P, D409H, R120W, L174P, and Q497R) in all participants. The G2385R and R1628P in LRRK2 had been previously studied in almost all participants. Results: In total, 36 patients (3.72%) carried a heterozygous mutant GBA allele (27 L444P, 7 RecNciI, and 2 D409H). Only two controls (0.26%) carried heterozygous GBA mutation (1 L444P and 1 RecNciI). In PD group, the mean age at onset in carriers was younger than in non‐carriers. The difference in percentage of mutation frequencies between patients and controls was highly significant for the L444P mutation (P < 0.0001). One L444P carrier was also associated with LRRK2 G2385R variant, but no atypical Parkinsonism was observed. Conclusions: The present study ascertains that L444P mutation in GBA gene may contribute to an earlier onset of development of PD in Han/Chinese population. Following LRRK2 variants, GBA is the second most frequent mutations indicated for sporadic PD development in the Han/Chinese population. These GBA carriers are associated with an earlier onset of Parkinsonism.
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DOI: 10.1111/j.1468-1331.2011.03362.x
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan</title><author><name sortKey="Huang, C" sort="Huang, C" uniqKey="Huang C" first="C." last="Huang">C. Huang</name><affiliation><mods:affiliation>Department of Neurology, Saint Paul’s Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Wu Hou, Y" sort="Wu Hou, Y" uniqKey="Wu Hou Y" first="Y." last="Wu-Chou">Y. Wu-Chou</name><affiliation><mods:affiliation>Human Molecular Genetics Laboratory, Department of Medical Research, Taoyuan</mods:affiliation></affiliation><affiliation><mods:affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Lai, S" sort="Lai, S" uniqKey="Lai S" first="S." last="Lai">S. Lai</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Chang, H" sort="Chang, H" uniqKey="Chang H" first="H." last="Chang">H. Chang</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Yeh, T" sort="Yeh, T" uniqKey="Yeh T" first="T." last="Yeh">T. Yeh</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Weng, Y" sort="Weng, Y" uniqKey="Weng Y" first="Y." last="Weng">Y. Weng</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Chen, R" sort="Chen, R" uniqKey="Chen R" first="R." last="Chen">R. Chen</name><affiliation><mods:affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Huang, Y" sort="Huang, Y" uniqKey="Huang Y" first="Y." last="Huang">Y. Huang</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Lu, C" sort="Lu, C" uniqKey="Lu C" first="C." last="Lu">C. Lu</name><affiliation><mods:affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation><affiliation><mods:affiliation>Chang Gung University, Taoyuan, Taiwan</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:377A68F6585C151741FB7C5D8688B7F8E593ADCE</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1111/j.1468-1331.2011.03362.x</idno><idno type="url">https://api.istex.fr/document/377A68F6585C151741FB7C5D8688B7F8E593ADCE/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000255</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan</title><author><name sortKey="Huang, C" sort="Huang, C" uniqKey="Huang C" first="C." last="Huang">C. Huang</name><affiliation><mods:affiliation>Department of Neurology, Saint Paul’s Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Wu Hou, Y" sort="Wu Hou, Y" uniqKey="Wu Hou Y" first="Y." last="Wu-Chou">Y. Wu-Chou</name><affiliation><mods:affiliation>Human Molecular Genetics Laboratory, Department of Medical Research, Taoyuan</mods:affiliation></affiliation><affiliation><mods:affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Lai, S" sort="Lai, S" uniqKey="Lai S" first="S." last="Lai">S. Lai</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Chang, H" sort="Chang, H" uniqKey="Chang H" first="H." last="Chang">H. Chang</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Yeh, T" sort="Yeh, T" uniqKey="Yeh T" first="T." last="Yeh">T. Yeh</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Weng, Y" sort="Weng, Y" uniqKey="Weng Y" first="Y." last="Weng">Y. Weng</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Chen, R" sort="Chen, R" uniqKey="Chen R" first="R." last="Chen">R. Chen</name><affiliation><mods:affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Huang, Y" sort="Huang, Y" uniqKey="Huang Y" first="Y." last="Huang">Y. Huang</name><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation></author><author><name sortKey="Lu, C" sort="Lu, C" uniqKey="Lu C" first="C." last="Lu">C. Lu</name><affiliation><mods:affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</mods:affiliation></affiliation><affiliation><mods:affiliation>Chang Gung University, Taoyuan, Taiwan</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">European Journal of Neurology</title><idno type="ISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-10">2011-10</date><biblScope unit="volume">18</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1227">1227</biblScope><biblScope unit="page" to="1232">1232</biblScope></imprint><idno type="ISSN">1351-5101</idno></series><idno type="istex">377A68F6585C151741FB7C5D8688B7F8E593ADCE</idno><idno type="DOI">10.1111/j.1468-1331.2011.03362.x</idno><idno type="ArticleID">ENE3362</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1351-5101</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>GBA gene</term><term>LRRK2</term><term>Taiwanese</term><term>sporadic Parkinson’s disease</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background and purpose: The association between glucocerebrosidase (GBA) mutations and Parkinson’s disease (PD) is attracting increased attention worldwide. In patients of Chinese ethnicity, other than the common L444P mutation, a few mutations have been reported. However, the contribution of GBA to PD can be answered only by a thorough investigation of its mutations in a unique large population. Methods: We enrolled 1747 participants: 967 PD patients and 780 healthy individuals. We screened entire GBA coding regions and exon–intron boundaries in 30 randomly chosen PD patients, followed by testing five variants (L444P, D409H, R120W, L174P, and Q497R) in all participants. The G2385R and R1628P in LRRK2 had been previously studied in almost all participants. Results: In total, 36 patients (3.72%) carried a heterozygous mutant GBA allele (27 L444P, 7 RecNciI, and 2 D409H). Only two controls (0.26%) carried heterozygous GBA mutation (1 L444P and 1 RecNciI). In PD group, the mean age at onset in carriers was younger than in non‐carriers. The difference in percentage of mutation frequencies between patients and controls was highly significant for the L444P mutation (P < 0.0001). One L444P carrier was also associated with LRRK2 G2385R variant, but no atypical Parkinsonism was observed. Conclusions: The present study ascertains that L444P mutation in GBA gene may contribute to an earlier onset of development of PD in Han/Chinese population. Following LRRK2 variants, GBA is the second most frequent mutations indicated for sporadic PD development in the Han/Chinese population. These GBA carriers are associated with an earlier onset of Parkinsonism.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>C.‐L. Huang</name><affiliations><json:string>Department of Neurology, Saint Paul’s Hospital, Taoyuan</json:string></affiliations></json:item><json:item><name>Y.‐H. Wu‐Chou</name><affiliations><json:string>Human Molecular Genetics Laboratory, Department of Medical Research, Taoyuan</json:string><json:string>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</json:string></affiliations></json:item><json:item><name>S.‐C. Lai</name><affiliations><json:string>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</json:string></affiliations></json:item><json:item><name>H.‐C. Chang</name><affiliations><json:string>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</json:string></affiliations></json:item><json:item><name>T.‐H. Yeh</name><affiliations><json:string>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</json:string></affiliations></json:item><json:item><name>Y.‐H. Weng</name><affiliations><json:string>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</json:string></affiliations></json:item><json:item><name>R.‐S. Chen</name><affiliations><json:string>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</json:string><json:string>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</json:string></affiliations></json:item><json:item><name>Y.‐Z. Huang</name><affiliations><json:string>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</json:string></affiliations></json:item><json:item><name>C.‐S. Lu</name><affiliations><json:string>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</json:string><json:string>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</json:string><json:string>Chang Gung University, Taoyuan, Taiwan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>GBA gene</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sporadic Parkinson’s disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Taiwanese</value></json:item></subject><articleId><json:string>ENE3362</json:string></articleId><language><json:string>eng</json:string></language><abstract>Background and purpose: The association between glucocerebrosidase (GBA) mutations and Parkinson’s disease (PD) is attracting increased attention worldwide. In patients of Chinese ethnicity, other than the common L444P mutation, a few mutations have been reported. However, the contribution of GBA to PD can be answered only by a thorough investigation of its mutations in a unique large population. Methods: We enrolled 1747 participants: 967 PD patients and 780 healthy individuals. We screened entire GBA coding regions and exon–intron boundaries in 30 randomly chosen PD patients, followed by testing five variants (L444P, D409H, R120W, L174P, and Q497R) in all participants. The G2385R and R1628P in LRRK2 had been previously studied in almost all participants. Results: In total, 36 patients (3.72%) carried a heterozygous mutant GBA allele (27 L444P, 7 RecNciI, and 2 D409H). Only two controls (0.26%) carried heterozygous GBA mutation (1 L444P and 1 RecNciI). In PD group, the mean age at onset in carriers was younger than in non‐carriers. The difference in percentage of mutation frequencies between patients and controls was highly significant for the L444P mutation (P > 0.0001). One L444P carrier was also associated with LRRK2 G2385R variant, but no atypical Parkinsonism was observed. Conclusions: The present study ascertains that L444P mutation in GBA gene may contribute to an earlier onset of development of PD in Han/Chinese population. Following LRRK2 variants, GBA is the second most frequent mutations indicated for sporadic PD development in the Han/Chinese population. These GBA carriers are associated with an earlier onset of Parkinsonism.</abstract><qualityIndicators><score>6.121</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595.276 x 782.362 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>1670</abstractCharCount><pdfWordCount>3133</pdfWordCount><pdfCharCount>20855</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>249</abstractWordCount></qualityIndicators><title>Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in 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Taiwan</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><p>WILEY</p></availability><date>2011</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan</title><author><persName><forename type="first">C.‐L.</forename><surname>Huang</surname></persName><note type="biography">Two authors contribute equally to the paper.</note><affiliation>Two authors contribute equally to the paper.</affiliation><affiliation>Department of Neurology, Saint Paul’s Hospital, Taoyuan</affiliation></author><author><persName><forename type="first">Y.‐H.</forename><surname>Wu‐Chou</surname></persName><note type="biography">Two authors contribute equally to the paper.</note><affiliation>Two authors contribute equally to the paper.</affiliation><affiliation>Human Molecular Genetics Laboratory, Department of Medical Research, Taoyuan</affiliation><affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</affiliation></author><author><persName><forename type="first">S.‐C.</forename><surname>Lai</surname></persName><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation></author><author><persName><forename type="first">H.‐C.</forename><surname>Chang</surname></persName><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation></author><author><persName><forename type="first">T.‐H.</forename><surname>Yeh</surname></persName><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation></author><author><persName><forename type="first">Y.‐H.</forename><surname>Weng</surname></persName><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation></author><author><persName><forename type="first">R.‐S.</forename><surname>Chen</surname></persName><affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</affiliation><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation></author><author><persName><forename type="first">Y.‐Z.</forename><surname>Huang</surname></persName><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation></author><author><persName><forename type="first">C.‐S.</forename><surname>Lu</surname></persName><affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</affiliation><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation><affiliation>Chang Gung University, Taoyuan, Taiwan</affiliation></author></analytic><monogr><title level="j">European Journal of Neurology</title><idno type="pISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><idno type="DOI">10.1111/(ISSN)1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-10"></date><biblScope unit="volume">18</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1227">1227</biblScope><biblScope unit="page" to="1232">1232</biblScope></imprint></monogr><idno type="istex">377A68F6585C151741FB7C5D8688B7F8E593ADCE</idno><idno type="DOI">10.1111/j.1468-1331.2011.03362.x</idno><idno type="ArticleID">ENE3362</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background and purpose: The association between glucocerebrosidase (GBA) mutations and Parkinson’s disease (PD) is attracting increased attention worldwide. In patients of Chinese ethnicity, other than the common L444P mutation, a few mutations have been reported. However, the contribution of GBA to PD can be answered only by a thorough investigation of its mutations in a unique large population. Methods: We enrolled 1747 participants: 967 PD patients and 780 healthy individuals. We screened entire GBA coding regions and exon–intron boundaries in 30 randomly chosen PD patients, followed by testing five variants (L444P, D409H, R120W, L174P, and Q497R) in all participants. The G2385R and R1628P in LRRK2 had been previously studied in almost all participants. Results: In total, 36 patients (3.72%) carried a heterozygous mutant GBA allele (27 L444P, 7 RecNciI, and 2 D409H). Only two controls (0.26%) carried heterozygous GBA mutation (1 L444P and 1 RecNciI). In PD group, the mean age at onset in carriers was younger than in non‐carriers. The difference in percentage of mutation frequencies between patients and controls was highly significant for the L444P mutation (P < 0.0001). One L444P carrier was also associated with LRRK2 G2385R variant, but no atypical Parkinsonism was observed. Conclusions: The present study ascertains that L444P mutation in GBA gene may contribute to an earlier onset of development of PD in Han/Chinese population. Following LRRK2 variants, GBA is the second most frequent mutations indicated for sporadic PD development in the Han/Chinese population. These GBA carriers are associated with an earlier onset of Parkinsonism.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>GBA gene</term></item><item><term>LRRK2</term></item><item><term>sporadic Parkinson’s disease</term></item><item><term>Taiwanese</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2011-10">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/377A68F6585C151741FB7C5D8688B7F8E593ADCE/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1468-1331</doi><issn type="print">1351-5101</issn><issn type="electronic">1468-1331</issn><idGroup><id type="product" value="ENE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="EUROPEAN JOURNAL OF NEUROLOGY">European Journal of Neurology</title></titleGroup></publicationMeta><publicationMeta level="part" position="10110"><doi origin="wiley">10.1111/ene.2011.18.issue-10</doi><numberingGroup><numbering type="journalVolume" number="18">18</numbering><numbering type="journalIssue" number="10">10</numbering></numberingGroup><coverDate startDate="2011-10">October 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="5" status="forIssue"><doi origin="wiley">10.1111/j.1468-1331.2011.03362.x</doi><idGroup><id type="unit" value="ENE3362"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="tocHeading1">Original Articles</title></titleGroup><copyright>© 2011 The Author(s). European Journal of Neurology © 2011 EFNS</copyright><eventGroup><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.10 mode:FullText" date="2011-09-14"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-02-22"></event><event type="firstOnline" date="2011-02-22"></event><event type="publishedOnlineFinalForm" date="2011-09-14"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-24"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="1227">1227</numbering><numbering type="pageLast" number="1232">1232</numbering></numberingGroup><correspondenceTo>C.‐S. Lu, Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; No. 5, Fu‐Hsin Street, Kweishan, Taoyuan, Taiwan (tel.: +886 3 328 1200 ext 8414; fax: +886 3 397 1504; e‐mail: <email>c81214@adm.cgmh.org.tw</email>; <email>bob.cslu@gmail.com</email>).</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:ENE.ENE3362.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 21 July 2010 Accepted 5 January 2011</unparsedEditorialHistory><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="6"></count></countGroup><titleGroup><title type="main">Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan</title><title type="shortAuthors">C.‐L. Huang <i>et al.</i></title><title type="short"><i>GBA</i> mutations in Taiwan sPD</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" noteRef="#fn1"><personName><givenNames>C.‐L.</givenNames><familyName>Huang</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2 #a3" noteRef="#fn1"><personName><givenNames>Y.‐H.</givenNames><familyName>Wu‐Chou</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a4"><personName><givenNames>S.‐C.</givenNames><familyName>Lai</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a4"><personName><givenNames>H.‐C.</givenNames><familyName>Chang</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a4"><personName><givenNames>T.‐H.</givenNames><familyName>Yeh</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a4"><personName><givenNames>Y.‐H.</givenNames><familyName>Weng</familyName></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#a3 #a4"><personName><givenNames>R.‐S.</givenNames><familyName>Chen</familyName></personName></creator><creator creatorRole="author" xml:id="cr8" affiliationRef="#a4"><personName><givenNames>Y.‐Z.</givenNames><familyName>Huang</familyName></personName></creator><creator creatorRole="author" xml:id="cr9" affiliationRef="#a3 #a4 #a5"><personName><givenNames>C.‐S.</givenNames><familyName>Lu</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1"><unparsedAffiliation>Department of Neurology, Saint Paul’s Hospital, Taoyuan</unparsedAffiliation></affiliation><affiliation xml:id="a2"><unparsedAffiliation>Human Molecular Genetics Laboratory, Department of Medical Research, Taoyuan</unparsedAffiliation></affiliation><affiliation xml:id="a3"><unparsedAffiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</unparsedAffiliation></affiliation><affiliation xml:id="a4"><unparsedAffiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</unparsedAffiliation></affiliation><affiliation xml:id="a5"><unparsedAffiliation>Chang Gung University, Taoyuan, Taiwan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1"><i>GBA</i> gene</keyword><keyword xml:id="k2"><i>LRRK2</i></keyword><keyword xml:id="k3">sporadic Parkinson’s disease</keyword><keyword xml:id="k4">Taiwanese</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p><b>Background and purpose: </b> The association between glucocerebrosidase (<i>GBA</i>) mutations and Parkinson’s disease (PD) is attracting increased attention worldwide. In patients of Chinese ethnicity, other than the common L444P mutation, a few mutations have been reported. However, the contribution of <i>GBA</i> to PD can be answered only by a thorough investigation of its mutations in a unique large population.</p><p><b>Methods: </b> We enrolled 1747 participants: 967 PD patients and 780 healthy individuals. We screened entire <i>GBA</i> coding regions and exon–intron boundaries in 30 randomly chosen PD patients, followed by testing five variants (L444P, D409H, R120W, L174P, and Q497R) in all participants. The G2385R and R1628P in <i>LRRK2</i> had been previously studied in almost all participants.</p><p><b>Results: </b> In total, 36 patients (3.72%) carried a heterozygous mutant <i>GBA</i> allele (27 L444P, 7 Rec<i>Nci</i>I, and 2 D409H). Only two controls (0.26%) carried heterozygous <i>GBA</i> mutation (1 L444P and 1 Rec<i>Nci</i>I). In PD group, the mean age at onset in carriers was younger than in non‐carriers. The difference in percentage of mutation frequencies between patients and controls was highly significant for the L444P mutation (<i>P</i> < 0.0001). One L444P carrier was also associated with <i>LRRK2</i> G2385R variant, but no atypical Parkinsonism was observed.</p><p><b>Conclusions: </b> The present study ascertains that L444P mutation in <i>GBA</i> gene may contribute to an earlier onset of development of PD in Han/Chinese population. Following <i>LRRK2</i> variants, <i>GBA</i> is the second most frequent mutations indicated for sporadic PD development in the Han/Chinese population. These <i>GBA</i> carriers are associated with an earlier onset of Parkinsonism.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p> Two authors contribute equally to the paper.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan</title></titleInfo><titleInfo type="abbreviated"><title>GBA mutations in Taiwan sPD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan</title></titleInfo><name type="personal"><namePart type="given">C.‐L.</namePart><namePart type="family">Huang</namePart><affiliation>Department of Neurology, Saint Paul’s Hospital, Taoyuan</affiliation><description>Two authors contribute equally to the paper.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Y.‐H.</namePart><namePart type="family">Wu‐Chou</namePart><affiliation>Human Molecular Genetics Laboratory, Department of Medical Research, Taoyuan</affiliation><affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</affiliation><description>Two authors contribute equally to the paper.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.‐C.</namePart><namePart type="family">Lai</namePart><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H.‐C.</namePart><namePart type="family">Chang</namePart><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T.‐H.</namePart><namePart type="family">Yeh</namePart><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Y.‐H.</namePart><namePart type="family">Weng</namePart><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.‐S.</namePart><namePart type="family">Chen</namePart><affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</affiliation><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Y.‐Z.</namePart><namePart type="family">Huang</namePart><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.‐S.</namePart><namePart type="family">Lu</namePart><affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan</affiliation><affiliation>Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan</affiliation><affiliation>Chang Gung University, Taoyuan, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2011-10</dateIssued><edition>Received 21 July 2010 Accepted 5 January 2011</edition><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">6</extent></physicalDescription><abstract lang="en">Background and purpose: The association between glucocerebrosidase (GBA) mutations and Parkinson’s disease (PD) is attracting increased attention worldwide. In patients of Chinese ethnicity, other than the common L444P mutation, a few mutations have been reported. However, the contribution of GBA to PD can be answered only by a thorough investigation of its mutations in a unique large population. Methods: We enrolled 1747 participants: 967 PD patients and 780 healthy individuals. We screened entire GBA coding regions and exon–intron boundaries in 30 randomly chosen PD patients, followed by testing five variants (L444P, D409H, R120W, L174P, and Q497R) in all participants. The G2385R and R1628P in LRRK2 had been previously studied in almost all participants. Results: In total, 36 patients (3.72%) carried a heterozygous mutant GBA allele (27 L444P, 7 RecNciI, and 2 D409H). Only two controls (0.26%) carried heterozygous GBA mutation (1 L444P and 1 RecNciI). In PD group, the mean age at onset in carriers was younger than in non‐carriers. The difference in percentage of mutation frequencies between patients and controls was highly significant for the L444P mutation (P < 0.0001). One L444P carrier was also associated with LRRK2 G2385R variant, but no atypical Parkinsonism was observed. Conclusions: The present study ascertains that L444P mutation in GBA gene may contribute to an earlier onset of development of PD in Han/Chinese population. Following LRRK2 variants, GBA is the second most frequent mutations indicated for sporadic PD development in the Han/Chinese population. These GBA carriers are associated with an earlier onset of Parkinsonism.</abstract><subject lang="en"><genre>Keywords</genre><topic>GBA gene</topic><topic>LRRK2</topic><topic>sporadic Parkinson’s disease</topic><topic>Taiwanese</topic></subject><relatedItem type="host"><titleInfo><title>European Journal of Neurology</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">1351-5101</identifier><identifier type="eISSN">1468-1331</identifier><identifier type="DOI">10.1111/(ISSN)1468-1331</identifier><identifier type="PublisherID">ENE</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>18</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>1227</start><end>1232</end><total>6</total></extent></part></relatedItem><identifier type="istex">377A68F6585C151741FB7C5D8688B7F8E593ADCE</identifier><identifier type="DOI">10.1111/j.1468-1331.2011.03362.x</identifier><identifier type="ArticleID">ENE3362</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2011 The Author(s). 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