The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism
Identifieur interne : 001A94 ( Istex/Corpus ); précédent : 001A93; suivant : 001A95The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism
Auteurs : Agnès Camuzat ; Marc Romana ; Alexandra Dürr ; Josué Feingold ; Alexis Brice ; Merle Ruberg ; Annie LannuzelSource :
- Movement Disorders [ 0885-3185 ] ; 2008-12-15.
English descriptors
- KwdEn :
Abstract
The aim of this study was to determine whether the H1 subhaplotype in MAPT associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP‐like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age‐matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype‐tagging single nucleotide polymorphisms (Ht‐SNPs) in linkage disequilibrium at the MAPT locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht‐SNPs used to determine the PSP‐associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP‐like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22297
Links to Exploration step
ISTEX:977337B7AEF3E2B4904C99EFB211D8910E166B28Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism</title><author><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name><affiliation><mods:affiliation>INSERM, U763, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</mods:affiliation></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, Pitié‐Salpêtrière Medical School, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique et Cytogénétique, AP‐HP, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:977337B7AEF3E2B4904C99EFB211D8910E166B28</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/mds.22297</idno><idno type="url">https://api.istex.fr/document/977337B7AEF3E2B4904C99EFB211D8910E166B28/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001A94</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism</title><author><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name><affiliation><mods:affiliation>INSERM, U763, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</mods:affiliation></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, Pitié‐Salpêtrière Medical School, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique et Cytogénétique, AP‐HP, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name><affiliation><mods:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-12-15">2008-12-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2384">2384</biblScope><biblScope unit="page" to="2391">2391</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">977337B7AEF3E2B4904C99EFB211D8910E166B28</idno><idno type="DOI">10.1002/mds.22297</idno><idno type="ArticleID">MDS22297</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>atypical parkinsonian syndromes</term><term>genetic polymorphism</term><term>genetic risk</term><term>progressive supranuclear palsy</term><term>tauopathy</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The aim of this study was to determine whether the H1 subhaplotype in MAPT associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP‐like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age‐matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype‐tagging single nucleotide polymorphisms (Ht‐SNPs) in linkage disequilibrium at the MAPT locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht‐SNPs used to determine the PSP‐associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP‐like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described. © 2008 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Agnès Camuzat BS</name><affiliations><json:string>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</json:string><json:string>UPMC Univ Paris 06, UMR_S 679, Paris, France</json:string></affiliations></json:item><json:item><name>Marc Romana PhD</name><affiliations><json:string>INSERM, U763, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</json:string></affiliations></json:item><json:item><name>Alexandra Dürr MD, PhD</name><affiliations><json:string>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</json:string><json:string>UPMC Univ Paris 06, UMR_S 679, Paris, France</json:string></affiliations></json:item><json:item><name>Josué Feingold MD</name><affiliations><json:string>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</json:string><json:string>UPMC Univ Paris 06, UMR_S 679, Paris, France</json:string></affiliations></json:item><json:item><name>Alexis Brice MD</name><affiliations><json:string>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</json:string><json:string>UPMC Univ Paris 06, UMR_S 679, Paris, France</json:string><json:string>UPMC Univ Paris 06, Pitié‐Salpêtrière Medical School, Paris, France</json:string><json:string>Département de Génétique et Cytogénétique, AP‐HP, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>Merle Ruberg PhD</name><affiliations><json:string>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</json:string><json:string>UPMC Univ Paris 06, UMR_S 679, Paris, France</json:string></affiliations></json:item><json:item><name>Annie Lannuzel MD, PhD</name><affiliations><json:string>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</json:string><json:string>UPMC Univ Paris 06, UMR_S 679, Paris, France</json:string><json:string>Department of Neurology, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>atypical parkinsonian syndromes</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic risk</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>progressive supranuclear palsy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>tauopathy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic polymorphism</value></json:item></subject><language><json:string>eng</json:string></language><abstract>The aim of this study was to determine whether the H1 subhaplotype in MAPT associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP‐like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age‐matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype‐tagging single nucleotide polymorphisms (Ht‐SNPs) in linkage disequilibrium at the MAPT locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht‐SNPs used to determine the PSP‐associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP‐like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described. © 2008 Movement Disorder Society</abstract><qualityIndicators><score>5.739</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1432</abstractCharCount><pdfWordCount>3327</pdfWordCount><pdfCharCount>26124</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>201</abstractWordCount></qualityIndicators><title>The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism</title><genre><json:string>Serial article</json:string></genre><host><volume>23</volume><pages><total>8</total><last>2391</last><first>2384</first></pages><issn><json:string>0885-3185</json:string></issn><issue>16</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2008</publicationDate><copyrightDate>2008</copyrightDate><doi><json:string>10.1002/mds.22297</json:string></doi><id>977337B7AEF3E2B4904C99EFB211D8910E166B28</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/977337B7AEF3E2B4904C99EFB211D8910E166B28/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/977337B7AEF3E2B4904C99EFB211D8910E166B28/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/977337B7AEF3E2B4904C99EFB211D8910E166B28/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2008</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: None reported.</note><note>INSERM - No. U679;</note><note>Centre Hospitalo‐Universitaire of Pointe‐à‐Pitre</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism</title><author><persName><forename type="first">Agnès</forename><surname>Camuzat</surname><roleName type="degree">BS</roleName></persName><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation></author><author><persName><forename type="first">Marc</forename><surname>Romana</surname><roleName type="degree">PhD</roleName></persName><affiliation>INSERM, U763, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</affiliation></author><author><persName><forename type="first">Alexandra</forename><surname>Dürr</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation></author><author><persName><forename type="first">Josué</forename><surname>Feingold</surname><roleName type="degree">MD</roleName></persName><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Brice</surname><roleName type="degree">MD</roleName></persName><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, Pitié‐Salpêtrière Medical School, Paris, France</affiliation><affiliation>Département de Génétique et Cytogénétique, AP‐HP, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Merle</forename><surname>Ruberg</surname><roleName type="degree">PhD</roleName></persName><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation></author><author><persName><forename type="first">Annie</forename><surname>Lannuzel</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: INSERM U679, Hôpital de la Salpêtrière, 47 Bd de l'Hôpital, Paris 75013, France; Department of Neurology, Centre Hospitalier Universitaire, Boite Postale 465, Pointe‐à‐Pitre 97159 Cedex</p></note><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation><affiliation>Department of Neurology, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-12-15"></date><biblScope unit="vol">23</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2384">2384</biblScope><biblScope unit="page" to="2391">2391</biblScope></imprint></monogr><idno type="istex">977337B7AEF3E2B4904C99EFB211D8910E166B28</idno><idno type="DOI">10.1002/mds.22297</idno><idno type="ArticleID">MDS22297</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2008</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>The aim of this study was to determine whether the H1 subhaplotype in MAPT associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP‐like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age‐matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype‐tagging single nucleotide polymorphisms (Ht‐SNPs) in linkage disequilibrium at the MAPT locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht‐SNPs used to determine the PSP‐associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP‐like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described. © 2008 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>atypical parkinsonian syndromes</term></item><item><term>genetic risk</term></item><item><term>progressive supranuclear palsy</term></item><item><term>tauopathy</term></item><item><term>genetic polymorphism</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2008-04-08">Received</change><change when="2008-08-02">Registration</change><change when="2008-12-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/977337B7AEF3E2B4904C99EFB211D8910E166B28/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>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="160"><doi origin="wiley" registered="yes">10.1002/mds.v23:16</doi><numberingGroup><numbering type="journalVolume" number="23">23</numbering><numbering type="journalIssue">16</numbering></numberingGroup><coverDate startDate="2008-12-15">15 December 2008</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="140" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.22297</doi><idGroup><id type="unit" value="MDS22297"></id></idGroup><countGroup><count type="pageTotal" number="8"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2008 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2008-04-08"></event><event type="manuscriptRevised" date="2008-07-29"></event><event type="manuscriptAccepted" date="2008-08-02"></event><event type="publishedOnlineEarlyUnpaginated" date="2008-09-11"></event><event type="firstOnline" date="2008-09-11"></event><event type="publishedOnlineFinalForm" date="2008-12-21"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-04-21"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">2384</numbering><numbering type="pageLast">2391</numbering></numberingGroup><correspondenceTo>INSERM U679, Hôpital de la Salpêtrière, 47 Bd de l'Hôpital, Paris 75013, France; Department of Neurology, Centre Hospitalier Universitaire, Boite Postale 465, Pointe‐à‐Pitre 97159 Cedex</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22297.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="5"></count><count type="referenceTotal" number="30"></count><count type="wordTotal" number="7991"></count></countGroup><titleGroup><title type="main" xml:lang="en">The PSP‐associated <i>MAPT</i> H1 subhaplotype in Guadeloupean atypical Parkinsonism<link href="#fn8"></link></title><title type="short" xml:lang="en"><fi>MAPT</fi> H1 Subhaplotype in Guadeloupe</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Agnès</givenNames><familyName>Camuzat</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Marc</givenNames><familyName>Romana</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Alexandra</givenNames><familyName>Dürr</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Josué</givenNames><familyName>Feingold</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1 #af2 #af4 #af5"><personName><givenNames>Alexis</givenNames><familyName>Brice</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Merle</givenNames><familyName>Ruberg</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af2 #af6" corresponding="yes"><personName><givenNames>Annie</givenNames><familyName>Lannuzel</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>annie.lannuzel@wanadoo.fr</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="FR" type="organization"><unparsedAffiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="FR" type="organization"><unparsedAffiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GP" type="organization"><unparsedAffiliation>INSERM, U763, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="FR" type="organization"><unparsedAffiliation>UPMC Univ Paris 06, Pitié‐Salpêtrière Medical School, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="FR" type="organization"><unparsedAffiliation>Département de Génétique et Cytogénétique, AP‐HP, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="GP" type="organization"><unparsedAffiliation>Department of Neurology, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">atypical parkinsonian syndromes</keyword><keyword xml:id="kwd2">genetic risk</keyword><keyword xml:id="kwd3">progressive supranuclear palsy</keyword><keyword xml:id="kwd4">tauopathy</keyword><keyword xml:id="kwd5">genetic polymorphism</keyword></keywordGroup><fundingInfo><fundingAgency>INSERM</fundingAgency><fundingNumber>U679</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Centre Hospitalo‐Universitaire of Pointe‐à‐Pitre</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The aim of this study was to determine whether the H1 subhaplotype in <i>MAPT</i> associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP‐like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age‐matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype‐tagging single nucleotide polymorphisms (Ht‐SNPs) in linkage disequilibrium at the <i>MAPT</i> locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht‐SNPs used to determine the PSP‐associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP‐like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described. © 2008 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn8"><p>Potential conflict of interest: None reported.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>MAPT H1 Subhaplotype in Guadeloupe</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>The PSP‐associated</title></titleInfo><name type="personal"><namePart type="given">Agnès</namePart><namePart type="family">Camuzat</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marc</namePart><namePart type="family">Romana</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>INSERM, U763, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra</namePart><namePart type="family">Dürr</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Josué</namePart><namePart type="family">Feingold</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, Pitié‐Salpêtrière Medical School, Paris, France</affiliation><affiliation>Département de Génétique et Cytogénétique, AP‐HP, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Merle</namePart><namePart type="family">Ruberg</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Annie</namePart><namePart type="family">Lannuzel</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France</affiliation><affiliation>UPMC Univ Paris 06, UMR_S 679, Paris, France</affiliation><affiliation>Department of Neurology, Centre Hospitalier Universitaire, Pointe‐à‐Pitre, Guadeloupe</affiliation><description>Correspondence: INSERM U679, Hôpital de la Salpêtrière, 47 Bd de l'Hôpital, Paris 75013, France; Department of Neurology, Centre Hospitalier Universitaire, Boite Postale 465, Pointe‐à‐Pitre 97159 Cedex</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2008-12-15</dateIssued><dateCaptured encoding="w3cdtf">2008-04-08</dateCaptured><dateValid encoding="w3cdtf">2008-08-02</dateValid><copyrightDate encoding="w3cdtf">2008</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="tables">5</extent><extent unit="references">30</extent><extent unit="words">7991</extent></physicalDescription><abstract lang="en">The aim of this study was to determine whether the H1 subhaplotype in MAPT associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP‐like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age‐matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype‐tagging single nucleotide polymorphisms (Ht‐SNPs) in linkage disequilibrium at the MAPT locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht‐SNPs used to determine the PSP‐associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP‐like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described. © 2008 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: None reported.</note><note type="funding">INSERM - No. U679; </note><note type="funding">Centre Hospitalo‐Universitaire of Pointe‐à‐Pitre</note><subject lang="en"><genre>Keywords</genre><topic>atypical parkinsonian syndromes</topic><topic>genetic risk</topic><topic>progressive supranuclear palsy</topic><topic>tauopathy</topic><topic>genetic polymorphism</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2008</date><detail type="volume"><caption>vol.</caption><number>23</number></detail><detail type="issue"><caption>no.</caption><number>16</number></detail><extent unit="pages"><start>2384</start><end>2391</end><total>8</total></extent></part></relatedItem><identifier type="istex">977337B7AEF3E2B4904C99EFB211D8910E166B28</identifier><identifier type="DOI">10.1002/mds.22297</identifier><identifier type="ArticleID">MDS22297</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001A94 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001A94 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:977337B7AEF3E2B4904C99EFB211D8910E166B28
|texte= The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism
}}
| This area was generated with Dilib version V0.6.23. |  |