Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese
Identifieur interne : 001098 ( Main/Corpus ); précédent : 001097; suivant : 001099Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese
Auteurs : Yih-Ru Wu ; Chiung-Mei Chen ; Chih-Ying Chao ; Long-Sun Ro ; Rong-Kuo Lyu ; Kuo-Hsuan Chang ; Guey-Jen Lee-ChenSource :
- Journal of Neurology, Neurosurgery & Psychiatry [ 0022-3050 ] ; 2007-09.
English descriptors
- KwdEn :
Abstract
Background: Mutations in the glucocerebrosidase (GBA) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews. Methods: To investigate whether this finding can be confirmed in a Taiwanese population, we conducted a case control study in a cohort of 518 PD patients and 339 controls for the three common GBA mutations in Taiwan, L444P, RecNciI and R120W, using PCR restriction enzyme assay and DNA sequencing. Results: Heterozygous GBA mutations were detected in 16 PD patients (3.1%) and four controls (1.2%). Although this difference was not statistically significant (p = 0.0703), the average age at disease onset of the 16 PD patients (50.6 (12.3) years) was significantly younger than that of the total patient group (63.8 (10.5) years; p = 0.0007) and the non-carrier patient group (64.2 (10.2) years; p = 0.0005). After stratification by age, the frequency of mutation carriers was significantly higher for the early onset PD (EOPD, age at onset ⩽50 years) group than for age matched controls (12.9% vs 1.8%; p = 0.0335) and there was a trend towards an increased risk of the mutation carrier with EOPD (odds ratio 8.30; 95% CI 1.45 to 156.53). Clinically, all 16 patients carrying a GBA mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa. Conclusions: Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.
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DOI: 10.1136/jnnp.2006.105940
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of Life Science, National Taiwan Normal University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Ro, Long Sun" sort="Ro, Long Sun" uniqKey="Ro L" first="Long-Sun" last="Ro">Long-Sun Ro</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lyu, Rong Kuo" sort="Lyu, Rong Kuo" uniqKey="Lyu R" first="Rong-Kuo" last="Lyu">Rong-Kuo Lyu</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chang, Kuo Hsuan" sort="Chang, Kuo Hsuan" uniqKey="Chang K" first="Kuo-Hsuan" last="Chang">Kuo-Hsuan Chang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lee Chen, Guey Jen" sort="Lee Chen, Guey Jen" uniqKey="Lee Chen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><affiliation><mods:affiliation>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:03598E78725FDEC755E970B5F40AC6BA9FF8EDA9</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1136/jnnp.2006.105940</idno><idno type="url">https://api.istex.fr/document/03598E78725FDEC755E970B5F40AC6BA9FF8EDA9/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001098</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese</title><author><name sortKey="Wu, Yih Ru" sort="Wu, Yih Ru" uniqKey="Wu Y" first="Yih-Ru" last="Wu">Yih-Ru Wu</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chen, Chiung Mei" sort="Chen, Chiung Mei" uniqKey="Chen C" first="Chiung-Mei" last="Chen">Chiung-Mei Chen</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chao, Chih Ying" sort="Chao, Chih Ying" uniqKey="Chao C" first="Chih-Ying" last="Chao">Chih-Ying Chao</name><affiliation><mods:affiliation>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Ro, Long Sun" sort="Ro, Long Sun" uniqKey="Ro L" first="Long-Sun" last="Ro">Long-Sun Ro</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lyu, Rong Kuo" sort="Lyu, Rong Kuo" uniqKey="Lyu R" first="Rong-Kuo" last="Lyu">Rong-Kuo Lyu</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chang, Kuo Hsuan" sort="Chang, Kuo Hsuan" uniqKey="Chang K" first="Kuo-Hsuan" last="Chang">Kuo-Hsuan Chang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lee Chen, Guey Jen" sort="Lee Chen, Guey Jen" uniqKey="Lee Chen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><affiliation><mods:affiliation>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Neurology, Neurosurgery & Psychiatry</title><title level="j" type="abbrev">J Neurol Neurosurg Psychiatry</title><idno type="ISSN">0022-3050</idno><idno type="eISSN">1468-330X</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2007-09">2007-09</date><biblScope unit="volume">78</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="977">977</biblScope></imprint><idno type="ISSN">0022-3050</idno></series><idno type="istex">03598E78725FDEC755E970B5F40AC6BA9FF8EDA9</idno><idno type="DOI">10.1136/jnnp.2006.105940</idno><idno type="href">jnnp-78-977.pdf</idno><idno type="PMID">17702778</idno><idno type="local">0780977</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-3050</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>EOPD, early onset Parkinson disease</term><term>GBA, glucocerebrosidase</term><term>GD, Gaucher disease</term><term>PD, Parkinson disease</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Mutations in the glucocerebrosidase (GBA) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews. Methods: To investigate whether this finding can be confirmed in a Taiwanese population, we conducted a case control study in a cohort of 518 PD patients and 339 controls for the three common GBA mutations in Taiwan, L444P, RecNciI and R120W, using PCR restriction enzyme assay and DNA sequencing. Results: Heterozygous GBA mutations were detected in 16 PD patients (3.1%) and four controls (1.2%). Although this difference was not statistically significant (p = 0.0703), the average age at disease onset of the 16 PD patients (50.6 (12.3) years) was significantly younger than that of the total patient group (63.8 (10.5) years; p = 0.0007) and the non-carrier patient group (64.2 (10.2) years; p = 0.0005). After stratification by age, the frequency of mutation carriers was significantly higher for the early onset PD (EOPD, age at onset ⩽50 years) group than for age matched controls (12.9% vs 1.8%; p = 0.0335) and there was a trend towards an increased risk of the mutation carrier with EOPD (odds ratio 8.30; 95% CI 1.45 to 156.53). Clinically, all 16 patients carrying a GBA mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa. Conclusions: Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.</div></front></TEI><istex><corpusName>bmj</corpusName><author><json:item><name>Yih-Ru Wu</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Chiung-Mei Chen</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Chih-Ying Chao</name><affiliations><json:string>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Long-Sun Ro</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Rong-Kuo Lyu</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Kuo-Hsuan Chang</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Guey-Jen Lee-Chen</name><affiliations><json:string>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Short reports</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Drugs: CNS (not psychiatric)</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>EOPD, early onset Parkinson disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>GBA, glucocerebrosidase</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>GD, Gaucher disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PD, Parkinson disease</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Background: Mutations in the glucocerebrosidase (GBA) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews. Methods: To investigate whether this finding can be confirmed in a Taiwanese population, we conducted a case control study in a cohort of 518 PD patients and 339 controls for the three common GBA mutations in Taiwan, L444P, RecNciI and R120W, using PCR restriction enzyme assay and DNA sequencing. Results: Heterozygous GBA mutations were detected in 16 PD patients (3.1%) and four controls (1.2%). Although this difference was not statistically significant (p = 0.0703), the average age at disease onset of the 16 PD patients (50.6 (12.3) years) was significantly younger than that of the total patient group (63.8 (10.5) years; p = 0.0007) and the non-carrier patient group (64.2 (10.2) years; p = 0.0005). After stratification by age, the frequency of mutation carriers was significantly higher for the early onset PD (EOPD, age at onset ⩽50 years) group than for age matched controls (12.9% vs 1.8%; p = 0.0335) and there was a trend towards an increased risk of the mutation carrier with EOPD (odds ratio 8.30; 95% CI 1.45 to 156.53). Clinically, all 16 patients carrying a GBA mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa. Conclusions: Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.</abstract><qualityIndicators><score>4.791</score><pdfVersion>1.2</pdfVersion><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>8</keywordCount><abstractCharCount>1463</abstractCharCount><pdfWordCount>2067</pdfWordCount><pdfCharCount>14549</pdfCharCount><pdfPageCount>3</pdfPageCount><abstractWordCount>227</abstractWordCount></qualityIndicators><title>Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese</title><pmid><json:string>17702778</json:string></pmid><genre><json:string>other</json:string></genre><host><volume>78</volume><pages><first>977</first></pages><issn><json:string>0022-3050</json:string></issn><issue>9</issue><genre></genre><language><json:string>unknown</json:string></language><eissn><json:string>1468-330X</json:string></eissn><title>Journal of Neurology, Neurosurgery & Psychiatry</title></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1136/jnnp.2006.105940</json:string></doi><id>03598E78725FDEC755E970B5F40AC6BA9FF8EDA9</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/03598E78725FDEC755E970B5F40AC6BA9FF8EDA9/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/03598E78725FDEC755E970B5F40AC6BA9FF8EDA9/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/03598E78725FDEC755E970B5F40AC6BA9FF8EDA9/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese</title><respStmt xml:id="ISTEX-API" resp="Références bibliographiques récupérées via GROBID" name="ISTEX-API (INIST-CNRS)"></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>BMJ Publishing Group Ltd</publisher><availability><p>BMJ</p></availability><date>2007-08-16</date></publicationStmt><notesStmt><note>Correspondence to:
Dr G-J Lee-Chen
Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei, Taiwan 116; t43019@ntnu.edu.tw</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese</title><author><persName><forename type="first">Yih-Ru</forename><surname>Wu</surname></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Chiung-Mei</forename><surname>Chen</surname></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Chih-Ying</forename><surname>Chao</surname></persName><affiliation>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Long-Sun</forename><surname>Ro</surname></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Rong-Kuo</forename><surname>Lyu</surname></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Kuo-Hsuan</forename><surname>Chang</surname></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Guey-Jen</forename><surname>Lee-Chen</surname></persName><affiliation>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</affiliation></author></analytic><monogr><title level="j">Journal of Neurology, Neurosurgery & Psychiatry</title><title level="j" type="abbrev">J Neurol Neurosurg Psychiatry</title><idno type="pISSN">0022-3050</idno><idno type="eISSN">1468-330X</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2007-09"></date><biblScope unit="volume">78</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="977">977</biblScope></imprint></monogr><idno type="istex">03598E78725FDEC755E970B5F40AC6BA9FF8EDA9</idno><idno type="DOI">10.1136/jnnp.2006.105940</idno><idno type="href">jnnp-78-977.pdf</idno><idno type="PMID">17702778</idno><idno type="local">0780977</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007-08-16</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background: Mutations in the glucocerebrosidase (GBA) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews. Methods: To investigate whether this finding can be confirmed in a Taiwanese population, we conducted a case control study in a cohort of 518 PD patients and 339 controls for the three common GBA mutations in Taiwan, L444P, RecNciI and R120W, using PCR restriction enzyme assay and DNA sequencing. Results: Heterozygous GBA mutations were detected in 16 PD patients (3.1%) and four controls (1.2%). Although this difference was not statistically significant (p = 0.0703), the average age at disease onset of the 16 PD patients (50.6 (12.3) years) was significantly younger than that of the total patient group (63.8 (10.5) years; p = 0.0007) and the non-carrier patient group (64.2 (10.2) years; p = 0.0005). After stratification by age, the frequency of mutation carriers was significantly higher for the early onset PD (EOPD, age at onset ⩽50 years) group than for age matched controls (12.9% vs 1.8%; p = 0.0335) and there was a trend towards an increased risk of the mutation carrier with EOPD (odds ratio 8.30; 95% CI 1.45 to 156.53). Clinically, all 16 patients carrying a GBA mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa. Conclusions: Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.</p></abstract><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Genetics</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Drugs: CNS (not psychiatric)</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Parkinson's disease</term></item></list></keywords></textClass><textClass xml:lang="en"><keywords scheme="keyword"><list><head>ABR</head><item><term>EOPD, early onset Parkinson disease</term></item><item><term>GBA, glucocerebrosidase</term></item><item><term>GD, Gaucher disease</term></item><item><term>PD, Parkinson disease</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2007-08-16">Created</change><change when="2007-09">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-14">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/03598E78725FDEC755E970B5F40AC6BA9FF8EDA9/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article xml:lang="en" article-type="other"><front><journal-meta><journal-id journal-id-type="hwp">jnnp</journal-id><journal-id journal-id-type="nlm-ta">J Neurol Neurosurg Psychiatry</journal-id><journal-title>Journal of Neurology, Neurosurgery & Psychiatry</journal-title><abbrev-journal-title abbrev-type="publisher">J Neurol Neurosurg Psychiatry</abbrev-journal-title><issn pub-type="ppub">0022-3050</issn><issn pub-type="epub">1468-330X</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="other">0780977</article-id><article-id pub-id-type="doi">10.1136/jnnp.2006.105940</article-id><article-id pub-id-type="other">jnnp;78/9/977</article-id><article-id pub-id-type="pmid">17702778</article-id><article-id pub-id-type="other">977</article-id><article-id pub-id-type="other">jnnp.2006.105940</article-id><article-categories><subj-group subj-group-type="heading"><subject content-type="original">Short reports</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Genetics</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Drugs: CNS (not psychiatric)</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Parkinson's disease</subject></subj-group></article-categories><title-group><article-title>Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Wu</surname><given-names>Yih-Ru</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Chen</surname><given-names>Chiung-Mei</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Chao</surname><given-names>Chih-Ying</given-names></name><xref rid="AFF2">2</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Ro</surname><given-names>Long-Sun</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Lyu</surname><given-names>Rong-Kuo</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Chang</surname><given-names>Kuo-Hsuan</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Lee-Chen</surname><given-names>Guey-Jen</given-names></name><xref rid="AFF2">2</xref></contrib><aff id="AFF1"><label>1</label>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</aff><aff id="AFF2"><label>2</label>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</aff></contrib-group><author-notes><corresp>Correspondence to:
Dr G-J Lee-Chen
Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei, Taiwan 116; <ext-link xlink:href="t43019@ntnu.edu.tw" ext-link-type="email" xlink:type="simple">t43019@ntnu.edu.tw</ext-link></corresp></author-notes><pub-date pub-type="ppub"><month>9</month><year>2007</year></pub-date><pub-date pub-type="epub"><day>16</day><month>8</month><year>2007</year></pub-date><volume>78</volume><volume-id pub-id-type="other">78</volume-id><volume-id pub-id-type="other">78</volume-id><issue>9</issue><issue-id pub-id-type="other">jnnp;78/9</issue-id><issue-id pub-id-type="other">9</issue-id><issue-id pub-id-type="other">78/9</issue-id><fpage>977</fpage><history><date date-type="accepted"><day>04</day><month>04</month><year>2007</year></date><date date-type="received"><day>01</day><month>09</month><year>2006</year></date><date date-type="rev-recd"><day>09</day><month>03</month><year>2007</year></date></history><permissions><copyright-statement>Copyright 2007 Journal of Neurology Neurosurgery and Psychiatry</copyright-statement><copyright-year>2007</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jnnp-78-977.pdf"></self-uri><abstract xml:lang="en"><p><bold>Background:</bold> Mutations in the glucocerebrosidase (<italic>GBA</italic>) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews.</p><p><bold>Methods:</bold> To investigate whether this finding can be confirmed in a Taiwanese population, we conducted a case control study in a cohort of 518 PD patients and 339 controls for the three common <italic>GBA</italic> mutations in Taiwan, L444P, Rec<italic>Nci</italic>I and R120W, using PCR restriction enzyme assay and DNA sequencing.</p><p><bold>Results:</bold> Heterozygous <italic>GBA</italic> mutations were detected in 16 PD patients (3.1%) and four controls (1.2%). Although this difference was not statistically significant (p = 0.0703), the average age at disease onset of the 16 PD patients (50.6 (12.3) years) was significantly younger than that of the total patient group (63.8 (10.5) years; p = 0.0007) and the non-carrier patient group (64.2 (10.2) years; p = 0.0005). After stratification by age, the frequency of mutation carriers was significantly higher for the early onset PD (EOPD, age at onset ⩽50 years) group than for age matched controls (12.9% vs 1.8%; p = 0.0335) and there was a trend towards an increased risk of the mutation carrier with EOPD (odds ratio 8.30; 95% CI 1.45 to 156.53). Clinically, all 16 patients carrying a <italic>GBA</italic> mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa.</p><p><bold>Conclusions:</bold> Mutations of the <italic>GBA</italic> gene may be associated with the development of EOPD in Taiwan.</p></abstract><kwd-group kwd-group-type="ABR" xml:lang="en"><kwd>EOPD, early onset Parkinson disease</kwd><kwd>GBA, glucocerebrosidase</kwd><kwd>GD, Gaucher disease</kwd><kwd>PD, Parkinson disease</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese</title></titleInfo><name type="personal"><namePart type="given">Yih-Ru</namePart><namePart type="family">Wu</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chiung-Mei</namePart><namePart type="family">Chen</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chih-Ying</namePart><namePart type="family">Chao</namePart><affiliation>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Long-Sun</namePart><namePart type="family">Ro</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rong-Kuo</namePart><namePart type="family">Lyu</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kuo-Hsuan</namePart><namePart type="family">Chang</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Guey-Jen</namePart><namePart type="family">Lee-Chen</namePart><affiliation>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="other" displayLabel="other"></genre><subject><genre>hwp-journal-coll</genre><topic>Genetics</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Drugs: CNS (not psychiatric)</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Parkinson's disease</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2007-09</dateIssued><dateCreated encoding="w3cdtf">2007-08-16</dateCreated><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Background: Mutations in the glucocerebrosidase (GBA) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews. Methods: To investigate whether this finding can be confirmed in a Taiwanese population, we conducted a case control study in a cohort of 518 PD patients and 339 controls for the three common GBA mutations in Taiwan, L444P, RecNciI and R120W, using PCR restriction enzyme assay and DNA sequencing. Results: Heterozygous GBA mutations were detected in 16 PD patients (3.1%) and four controls (1.2%). Although this difference was not statistically significant (p = 0.0703), the average age at disease onset of the 16 PD patients (50.6 (12.3) years) was significantly younger than that of the total patient group (63.8 (10.5) years; p = 0.0007) and the non-carrier patient group (64.2 (10.2) years; p = 0.0005). After stratification by age, the frequency of mutation carriers was significantly higher for the early onset PD (EOPD, age at onset ⩽50 years) group than for age matched controls (12.9% vs 1.8%; p = 0.0335) and there was a trend towards an increased risk of the mutation carrier with EOPD (odds ratio 8.30; 95% CI 1.45 to 156.53). Clinically, all 16 patients carrying a GBA mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa. Conclusions: Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.</abstract><note type="author-notes">Correspondence to:
Dr G-J Lee-Chen
Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei, Taiwan 116; t43019@ntnu.edu.tw</note><subject lang="en"><genre>ABR</genre><topic>EOPD, early onset Parkinson disease</topic><topic>GBA, glucocerebrosidase</topic><topic>GD, Gaucher disease</topic><topic>PD, Parkinson disease</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Neurology, Neurosurgery & Psychiatry</title></titleInfo><titleInfo type="abbreviated"><title>J Neurol Neurosurg Psychiatry</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0022-3050</identifier><identifier type="eISSN">1468-330X</identifier><identifier type="PublisherID-hwp">jnnp</identifier><identifier type="PublisherID-nlm-ta">J Neurol Neurosurg Psychiatry</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>78</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>977</start></extent></part></relatedItem><identifier type="istex">03598E78725FDEC755E970B5F40AC6BA9FF8EDA9</identifier><identifier type="DOI">10.1136/jnnp.2006.105940</identifier><identifier type="href">jnnp-78-977.pdf</identifier><identifier type="PMID">17702778</identifier><identifier type="local">0780977</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright 2007 Journal of Neurology Neurosurgery and Psychiatry</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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