MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001053

The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism

Identifieur interne : 001053 ( PascalFrancis/Checkpoint ); précédent : 001052; suivant : 001054

The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism

Auteurs : Agnès Camuzat [France] ; Marc Romana [France] ; Alexandra Dürr [France] ; Josué Feingold [France] ; Alexis Brice [France] ; Merle Ruberg [France] ; Annie Lannuzel [France]

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:09-0058928

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Maladie de Parkinson, Pathologie du système nerveux, Facteur risque, Polymorphisme.

English descriptors

KwdEn :
- Nervous system diseases, Parkinson disease, Parkinsonism, Polymorphism, Risk factor.

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 HI 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 HI 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 HI subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described.

Affiliations:

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism</title>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
<term>Polymorphism</term>
<term>Risk factor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term>
<term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Facteur risque</term>
<term>Polymorphisme</term>
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<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 HI 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 HI 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 HI subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described.</div>
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<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
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<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>23</s2>
</fA05>
<fA06><s2>16</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>CAMUZAT (Agnès)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>ROMANA (Marc)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>DÜRR (Alexandra)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>FEINGOLD (Josué)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>BRICE (Alexis)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>RUBERG (Merle)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>LANNUZEL (Annie)</s1>
</fA11>
<fA14 i1="01"><s1>INSERM, UMR_S 679, Neurology and Experimental Therapeutics</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>UPMC Univ Paris 06, UMR_S 679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>INSERM, U763, Centre Hospitalier Universitaire</s1>
<s2>Pointe-à-Pitre</s2>
<s3>GLP</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>UPMC Univ Paris 06, Pitié-Salpêtrière Medical School</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Neurology, Centre Hospitalier Universitaire</s1>
<s2>Pointe-à-Pitre</s2>
<s3>GLP</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA20><s1>2384-2391</s1>
</fA20>
<fA21><s1>2008</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000196116650140</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2009 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>30 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>09-0058928</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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 HI 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 HI 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 HI subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Facteur risque</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Risk factor</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Factor riesgo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Polymorphisme</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Polymorphism</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Polimorfismo</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fN21><s1>040</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>France</li>
</country>
<settlement><li>Paris</li>
<li>Pointe-à-Pitre</li>
</settlement>
</list>
<tree><country name="France"><noRegion><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name>
</noRegion>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name>
<name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name>
<name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name>
<name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name>
<name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name>
<name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name>
<name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name>
<name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism

The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism

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