MovDisordV3, PascalFrancis, Curation, bibRecord, 000C15

Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations

Identifieur interne : 000C15 ( PascalFrancis/Curation ); précédent : 000C14; suivant : 000C16

Analysis 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.

RBID : Pascal:04-0455414

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Mutation, Système nerveux pathologie.

English descriptors

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

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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C01	`01`		`ENG`	@0 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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Pascal:04-0455414

Le document en format XML

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<author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name>
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<author><name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
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<author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
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<author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
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<author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
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<author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
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<author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
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<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Epidemiology, College of Physicians and Surgeons, Columbia University</s1>
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<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Psychiatry, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Taub Institute for Research on Alzlreimer's Disease and the Aging Brain, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Psychiatry, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">04-0455414</idno>
<date when="2004">2004</date>
<idno type="stanalyst">PASCAL 04-0455414 INIST</idno>
<idno type="RBID">Pascal:04-0455414</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002106</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000C15</idno>
</publicationStmt>
<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>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Taub Institute for Research on Alzlreimer's Disease and the Aging Brain, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Pathology, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Taub Institute for Research on Alzlreimer's Disease and the Aging Brain, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Taub Institute for Research on Alzlreimer's Disease and the Aging Brain, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Epidemiology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Molecular Genetics Section, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="De Vrieze, Fabienne Wavrant" sort="De Vrieze, Fabienne Wavrant" uniqKey="De Vrieze F" first="Fabienne Wavrant" last="De-Vrieze">Fabienne Wavrant De-Vrieze</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Taub Institute for Research on Alzlreimer's Disease and the Aging Brain, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Psychiatry, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Epidemiology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Psychiatry, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Taub Institute for Research on Alzlreimer's Disease and the Aging Brain, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Psychiatry, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</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="2004">2004</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>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Mutation</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</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>19</s2>
</fA05>
<fA06><s2>7</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>CLARK (Lorraine N.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>AFRIDI (Shehla)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>MEJIA-SANTANA (Helen)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>HARRIS (Juliette)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>LOUIS (Elan D.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>COTE (Lucien J.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>ANDREWS (Howard)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>SINGLETON (Andrew)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>DE-VRIEZE (Fabienne Wavrant)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>HARDY (John)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>MAYEUX (Richard)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>FAHN (Stanley)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>WATERS (Cheryl)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>FORD (Blair)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>FRUCHT (Steven)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>OTTMAN (Ruth)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>MARDER (Karen)</s1>
</fA11>
<fA14 i1="01"><s1>Taub Institute for Research on Alzlreimer's Disease and the Aging Brain, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Pathology, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Gertrude H. Sergievsky Center, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Epidemiology, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>16 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Molecular Genetics Section, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Psychiatry, College of Physicians and Surgeons, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</fA14>
<fA20><s1>796-800</s1>
</fA20>
<fA21><s1>2004</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000113929420070</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2004 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>24 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>04-0455414</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 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>
</fC01>
<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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	Movement Disorders (revue)
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Movement Disorders (revue)

Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations

Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations

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