Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations
Identifieur interne : 000C15 ( PascalFrancis/Curation ); précédent : 000C14; suivant : 000C16Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations
Auteurs : Lorraine N. Clark [États-Unis] ; Shehla Afridi [États-Unis] ; Helen Mejia-Santana [États-Unis] ; Juliette Harris [États-Unis] ; Elan D. Louis [États-Unis] ; Lucien J. Cote [États-Unis] ; Howard Andrews [États-Unis] ; Andrew Singleton [États-Unis] ; Fabienne Wavrant De-Vrieze [États-Unis] ; John Hardy [États-Unis] ; Richard Mayeux [États-Unis] ; Stanley Fahn [États-Unis] ; Cheryl Waters [États-Unis] ; Blair Ford [États-Unis] ; Steven Frucht [États-Unis] ; Ruth Ottman [États-Unis] ; Karen Marder [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2004.
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Abstract
The frequency and relative contribution of DJ-I mutations in early-onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ-1 gene in addition to assaying the 14,082-bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ-1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5' untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVSI and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.
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<author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name>
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<author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
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<author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations</title>
<author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name>
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<s2>New York, New York</s2>
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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Pathology, Columbia University</s1>
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<author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name>
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</author>
<author><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name>
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<author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name>
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<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="2004">2004</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term>
<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
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<front><div type="abstract" xml:lang="en">The frequency and relative contribution of DJ-I mutations in early-onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ-1 gene in addition to assaying the 14,082-bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ-1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5' untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVSI and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations</s1>
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<fA11 i1="01" i2="1"><s1>CLARK (Lorraine N.)</s1>
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<fC01 i1="01" l="ENG"><s0>The frequency and relative contribution of DJ-I mutations in early-onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ-1 gene in addition to assaying the 14,082-bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ-1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5' untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVSI and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.</s0>
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<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Mutation</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Mutation</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Mutación</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>04</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</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>Extrapyramidal syndrome</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>Système nerveux central pathologie</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>257</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>
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