MovDisordV3, PascalFrancis, Curation, bibRecord, 001E65

Alpha-Synuclein and Familial Parkinson's Disease

Identifieur interne : 001E65 ( PascalFrancis/Curation ); précédent : 001E64; suivant : 001E66

Alpha-Synuclein and Familial Parkinson's Disease

Auteurs : Nathan Pankratz [États-Unis] ; William C. Nichols [États-Unis] ; Veronika E. Elsaesser [États-Unis] ; Michael W. Pauciulo [États-Unis] ; Diane K. Marek [États-Unis] ; Cheryl A. Halter [États-Unis] ; Joanne Wojcieszek [États-Unis] ; Alice Rudolph [États-Unis] ; Ronald F. Pfeiffer [États-Unis] ; Tatiana Foroud [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0301984

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Maladie familiale.

English descriptors

KwdEn :
- Familial disease, Nervous system diseases, Parkinson disease.

Abstract

Whole gene duplications and triplications of alphasynuclein (SNCA) can cause Parkinson's disease (PD), and variation in the promoter region (Rep1) and 3' region of SNCA has been reported to increase disease susceptibility. Within our cohort, one affected individual from each of 92 multiplex PD families showing the greatest evidence of linkage to the region around SNCA was screened for dosage alterations and sequence changes; no dosage or non-synonymous sequence changes were found. In addition, 737 individuals (from 450 multiplex PD families) that met strict diagnostic criteria for PD and did not harbor a known causative mutation, as well as 359 neurologically normal controls, were genotyped for the Rep1 polymorphism and four SNPs in the 3' region of SNCA. The four SNPs were in high LD (r² > 0.95) and were analyzed as a haplotype. The effects of the Rep1 genotype and the 3' haplotype were evaluated using regression models employing only one individual per family. Cases had a 3% higher frequency of the Rep1 263 bp allele compared with controls (OR = 1.54; empirical P-value = 0.02). There was an inverse linear relationship between the number of 263 bp alleles and age of onset (empirical P-value = 0.0004). The 3' haplotype was also associated with disease (OR = 1.29; empirical P-value = 0.01), but not age of onset (P = 0.40). These data suggest that dosage and sequence changes are a rare cause of PD, but variation in the promoter and 3' region of SNCA convey an increased risk for PD.

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A08	`01`	`1`	`ENG`	`@1 Alpha-Synuclein and Familial Parkinson's Disease`
A11	`01`	`1`		`@1 PANKRATZ (Nathan)`
A11	`02`	`1`		`@1 NICHOLS (William C.)`
A11	`03`	`1`		`@1 ELSAESSER (Veronika E.)`
A11	`04`	`1`		`@1 PAUCIULO (Michael W.)`
A11	`05`	`1`		`@1 MAREK (Diane K.)`
A11	`06`	`1`		`@1 HALTER (Cheryl A.)`
A11	`07`	`1`		`@1 WOJCIESZEK (Joanne)`
A11	`08`	`1`		`@1 RUDOLPH (Alice)`
A11	`09`	`1`		`@1 PFEIFFER (Ronald F.)`
A11	`10`	`1`		`@1 FOROUD (Tatiana)`
A14	`01`			`@1 Department of Medical and Molecular Genetics, Indiana University Medical Center @2 Indianapolis, Indiana @3 USA @Z 1 aut. @Z 6 aut. @Z 7 aut. @Z 10 aut.`
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A14	`03`			`@1 Department of Pediatrics, University of Cincinnati School of Medicine @2 Cincinnati, Ohio @3 USA @Z 2 aut.`
A14	`04`			`@1 Department of Neurology, University of Rochester, Rochester @2 Rochester, New York @3 USA @Z 8 aut.`
A14	`05`			`@1 Department of Neurology, University of Tennessee Health Science Center @2 Memphis, Tennessee @3 USA @Z 9 aut.`
A17	`01`	`1`		`@1 Parkinson Study Group - PROGENI Investigators @3 USA`
A20				`@1 1125-1131`
A21				`@1 2009`
A23	`01`			`@0 ENG`
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C01	`01`		`ENG`	@0 Whole gene duplications and triplications of alphasynuclein (SNCA) can cause Parkinson's disease (PD), and variation in the promoter region (Rep1) and 3' region of SNCA has been reported to increase disease susceptibility. Within our cohort, one affected individual from each of 92 multiplex PD families showing the greatest evidence of linkage to the region around SNCA was screened for dosage alterations and sequence changes; no dosage or non-synonymous sequence changes were found. In addition, 737 individuals (from 450 multiplex PD families) that met strict diagnostic criteria for PD and did not harbor a known causative mutation, as well as 359 neurologically normal controls, were genotyped for the Rep1 polymorphism and four SNPs in the 3' region of SNCA. The four SNPs were in high LD (r² > 0.95) and were analyzed as a haplotype. The effects of the Rep1 genotype and the 3' haplotype were evaluated using regression models employing only one individual per family. Cases had a 3% higher frequency of the Rep1 263 bp allele compared with controls (OR = 1.54; empirical P-value = 0.02). There was an inverse linear relationship between the number of 263 bp alleles and age of onset (empirical P-value = 0.0004). The 3' haplotype was also associated with disease (OR = 1.29; empirical P-value = 0.01), but not age of onset (P = 0.40). These data suggest that dosage and sequence changes are a rare cause of PD, but variation in the promoter and 3' region of SNCA convey an increased risk for PD.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Maladie familiale @2 NM @5 09`
C03	`03`	`X`	`ENG`	`@0 Familial disease @2 NM @5 09`
C03	`03`	`X`	`SPA`	`@0 Enfermedad familiar @2 NM @5 09`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 215`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Alpha-Synuclein and Familial Parkinson's Disease</title>
<author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical and Molecular Genetics, Indiana University Medical Center</s1>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Human Genetics, Cincinnati Children's Hospital Medical Center</s1>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, University of Cincinnati School of Medicine</s1>
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<author><name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. Elsaesser</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Human Genetics, Cincinnati Children's Hospital Medical Center</s1>
<s2>Cincinnati, Ohio</s2>
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<author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Human Genetics, Cincinnati Children's Hospital Medical Center</s1>
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<author><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name>
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<s2>Cincinnati, Ohio</s2>
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<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical and Molecular Genetics, Indiana University Medical Center</s1>
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<author><name sortKey="Wojcieszek, Joanne" sort="Wojcieszek, Joanne" uniqKey="Wojcieszek J" first="Joanne" last="Wojcieszek">Joanne Wojcieszek</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical and Molecular Genetics, Indiana University Medical Center</s1>
<s2>Indianapolis, Indiana</s2>
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<author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Rochester, Rochester</s1>
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</author>
<author><name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of Tennessee Health Science Center</s1>
<s2>Memphis, Tennessee</s2>
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</author>
<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical and Molecular Genetics, Indiana University Medical Center</s1>
<s2>Indianapolis, Indiana</s2>
<s3>USA</s3>
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<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
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</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="2009">2009</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>Familial disease</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Maladie familiale</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Whole gene duplications and triplications of alphasynuclein (SNCA) can cause Parkinson's disease (PD), and variation in the promoter region (Rep1) and 3' region of SNCA has been reported to increase disease susceptibility. Within our cohort, one affected individual from each of 92 multiplex PD families showing the greatest evidence of linkage to the region around SNCA was screened for dosage alterations and sequence changes; no dosage or non-synonymous sequence changes were found. In addition, 737 individuals (from 450 multiplex PD families) that met strict diagnostic criteria for PD and did not harbor a known causative mutation, as well as 359 neurologically normal controls, were genotyped for the Rep1 polymorphism and four SNPs in the 3' region of SNCA. The four SNPs were in high LD (r<sup>2</sup>
 > 0.95) and were analyzed as a haplotype. The effects of the Rep1 genotype and the 3' haplotype were evaluated using regression models employing only one individual per family. Cases had a 3% higher frequency of the Rep1 263 bp allele compared with controls (OR = 1.54; empirical P-value = 0.02). There was an inverse linear relationship between the number of 263 bp alleles and age of onset (empirical P-value = 0.0004). The 3' haplotype was also associated with disease (OR = 1.29; empirical P-value = 0.01), but not age of onset (P = 0.40). These data suggest that dosage and sequence changes are a rare cause of PD, but variation in the promoter and 3' region of SNCA convey an increased risk for PD.</div>
</front>
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<fA11 i1="05" i2="1"><s1>MAREK (Diane K.)</s1>
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<fA11 i1="06" i2="1"><s1>HALTER (Cheryl A.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>WOJCIESZEK (Joanne)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>RUDOLPH (Alice)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>PFEIFFER (Ronald F.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>FOROUD (Tatiana)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Medical and Molecular Genetics, Indiana University Medical Center</s1>
<s2>Indianapolis, Indiana</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Division of Human Genetics, Cincinnati Children's Hospital Medical Center</s1>
<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Pediatrics, University of Cincinnati School of Medicine</s1>
<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, University of Rochester, Rochester</s1>
<s2>Rochester, New York</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurology, University of Tennessee Health Science Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA17 i1="01" i2="1"><s1>Parkinson Study Group - PROGENI Investigators</s1>
<s3>USA</s3>
</fA17>
<fA20><s1>1125-1131</s1>
</fA20>
<fA21><s1>2009</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000196165080030</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>09-0301984</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>Whole gene duplications and triplications of alphasynuclein (SNCA) can cause Parkinson's disease (PD), and variation in the promoter region (Rep1) and 3' region of SNCA has been reported to increase disease susceptibility. Within our cohort, one affected individual from each of 92 multiplex PD families showing the greatest evidence of linkage to the region around SNCA was screened for dosage alterations and sequence changes; no dosage or non-synonymous sequence changes were found. In addition, 737 individuals (from 450 multiplex PD families) that met strict diagnostic criteria for PD and did not harbor a known causative mutation, as well as 359 neurologically normal controls, were genotyped for the Rep1 polymorphism and four SNPs in the 3' region of SNCA. The four SNPs were in high LD (r<sup>2</sup>
 > 0.95) and were analyzed as a haplotype. The effects of the Rep1 genotype and the 3' haplotype were evaluated using regression models employing only one individual per family. Cases had a 3% higher frequency of the Rep1 263 bp allele compared with controls (OR = 1.54; empirical P-value = 0.02). There was an inverse linear relationship between the number of 263 bp alleles and age of onset (empirical P-value = 0.0004). The 3' haplotype was also associated with disease (OR = 1.29; empirical P-value = 0.01), but not age of onset (P = 0.40). These data suggest that dosage and sequence changes are a rare cause of PD, but variation in the promoter and 3' region of SNCA convey an increased risk for PD.</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>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Maladie familiale</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Familial disease</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Enfermedad familiar</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>215</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Alpha-Synuclein and Familial Parkinson's Disease

Alpha-Synuclein and Familial Parkinson's Disease

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