MovDisordV3, PascalFrancis, Corpus, bibRecord, 001019

The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism

Identifieur interne : 001019 ( PascalFrancis/Corpus ); précédent : 001018; suivant : 001020

The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism

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

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 23`
A06				`@2 16`
A08	`01`	`1`	`ENG`	`@1 The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism`
A11	`01`	`1`		`@1 CAMUZAT (Agnès)`
A11	`02`	`1`		`@1 ROMANA (Marc)`
A11	`03`	`1`		`@1 DÜRR (Alexandra)`
A11	`04`	`1`		`@1 FEINGOLD (Josué)`
A11	`05`	`1`		`@1 BRICE (Alexis)`
A11	`06`	`1`		`@1 RUBERG (Merle)`
A11	`07`	`1`		`@1 LANNUZEL (Annie)`
A14	`01`			`@1 INSERM, UMR_S 679, Neurology and Experimental Therapeutics @2 Paris @3 FRA @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut.`
A14	`02`			`@1 UPMC Univ Paris 06, UMR_S 679 @2 Paris @3 FRA @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut.`
A14	`03`			`@1 INSERM, U763, Centre Hospitalier Universitaire @2 Pointe-à-Pitre @3 GLP @Z 2 aut.`
A14	`04`			`@1 UPMC Univ Paris 06, Pitié-Salpêtrière Medical School @2 Paris @3 FRA @Z 5 aut.`
A14	`05`			`@1 Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière @2 Paris @3 FRA @Z 5 aut.`
A14	`06`			`@1 Department of Neurology, Centre Hospitalier Universitaire @2 Pointe-à-Pitre @3 GLP @Z 7 aut.`
A20				`@1 2384-2391`
A21				`@1 2008`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000196116650140`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 30 ref.`
A47	`01`	`1`		`@0 09-0058928`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 03`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 03`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 03`
C03	`04`	`X`	`FRE`	`@0 Facteur risque @5 09`
C03	`04`	`X`	`ENG`	`@0 Risk factor @5 09`
C03	`04`	`X`	`SPA`	`@0 Factor riesgo @5 09`
C03	`05`	`X`	`FRE`	`@0 Polymorphisme @5 10`
C03	`05`	`X`	`ENG`	`@0 Polymorphism @5 10`
C03	`05`	`X`	`SPA`	`@0 Polimorfismo @5 10`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 38`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 38`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 38`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 39`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 39`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 39`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 40`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 40`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 40`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 41`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
N21				`@1 040`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0058928 INIST
ET :	The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism
AU :	CAMUZAT (Agnès); ROMANA (Marc); DÜRR (Alexandra); FEINGOLD (Josué); BRICE (Alexis); RUBERG (Merle); LANNUZEL (Annie)
AF :	INSERM, UMR_S 679, Neurology and Experimental Therapeutics/Paris/France (1 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut.); UPMC Univ Paris 06, UMR_S 679/Paris/France (1 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut.); INSERM, U763, Centre Hospitalier Universitaire/Pointe-à-Pitre/Guadeloupe (2 aut.); UPMC Univ Paris 06, Pitié-Salpêtrière Medical School/Paris/France (5 aut.); Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière/Paris/France (5 aut.); Department of Neurology, Centre Hospitalier Universitaire/Pointe-à-Pitre/Guadeloupe (7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 16; Pp. 2384-2391; Bibl. 30 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Parkinsonisme; Maladie de Parkinson; Pathologie du système nerveux; Facteur risque; Polymorphisme
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinsonism; Parkinson disease; Nervous system diseases; Risk factor; Polymorphism
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Factor riesgo; Polimorfismo
LO :	INIST-20953.354000196116650140
ID :	09-0058928

Links to Exploration step

Pascal:09-0058928

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name>
<affiliation><inist:fA14 i1="03"><s1>INSERM, U763, Centre Hospitalier Universitaire</s1>
<s2>Pointe-à-Pitre</s2>
<s3>GLP</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>UPMC Univ Paris 06, Pitié-Salpêtrière Medical School</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Centre Hospitalier Universitaire</s1>
<s2>Pointe-à-Pitre</s2>
<s3>GLP</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">09-0058928</idno>
<date when="2008">2008</date>
<idno type="stanalyst">PASCAL 09-0058928 INIST</idno>
<idno type="RBID">Pascal:09-0058928</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001019</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name>
<affiliation><inist:fA14 i1="03"><s1>INSERM, U763, Centre Hospitalier Universitaire</s1>
<s2>Pointe-à-Pitre</s2>
<s3>GLP</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>UPMC Univ Paris 06, Pitié-Salpêtrière Medical School</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Centre Hospitalier Universitaire</s1>
<s2>Pointe-à-Pitre</s2>
<s3>GLP</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<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>
</keywords>
</textClass>
</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 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>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<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>
<server><NO>PASCAL 09-0058928 INIST</NO>
<ET>The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism</ET>
<AU>CAMUZAT (Agnès); ROMANA (Marc); DÜRR (Alexandra); FEINGOLD (Josué); BRICE (Alexis); RUBERG (Merle); LANNUZEL (Annie)</AU>
<AF>INSERM, UMR_S 679, Neurology and Experimental Therapeutics/Paris/France (1 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut.); UPMC Univ Paris 06, UMR_S 679/Paris/France (1 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut.); INSERM, U763, Centre Hospitalier Universitaire/Pointe-à-Pitre/Guadeloupe (2 aut.); UPMC Univ Paris 06, Pitié-Salpêtrière Medical School/Paris/France (5 aut.); Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière/Paris/France (5 aut.); Department of Neurology, Centre Hospitalier Universitaire/Pointe-à-Pitre/Guadeloupe (7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 16; Pp. 2384-2391; Bibl. 30 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Parkinsonisme; Maladie de Parkinson; Pathologie du   système nerveux; Facteur risque; Polymorphisme</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinsonism; Parkinson disease; Nervous system diseases; Risk factor; Polymorphism</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Factor riesgo; Polimorfismo</SD>
<LO>INIST-20953.354000196116650140</LO>
<ID>09-0058928</ID>
</server>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001019 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 001019 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Corpus
   |type=    RBID
   |clé=     Pascal:09-0058928
   |texte=   The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism

The PSP-Associated MAPT H1 Subhaplotype in Guadeloupean Atypical Parkinsonism

Source :

Descripteurs français

English descriptors

Abstract

Notice en format standard (ISO 2709)

Format Inist (serveur)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri