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

Lorraine N. Clark; Shehla Afridi; Helen Mejia-Santana; Juliette Harris; Elan D. Louis; Lucien J. Cote; Howard Andrews; Andrew Singleton; Fabienne Wavrant De-Vrieze; John Hardy; Richard Mayeux; Stanley Fahn; Cheryl Waters; Blair Ford; Steven Frucht; Ruth Ottman; Karen Marder

doi:10.1002/mds.20131

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

Lorraine N. Clark, Shehla Afridi, Helen Mejia-Santana, Juliette Harris, Elan D. Louis, Lucien J. Cote, Howard Andrews, Andrew Singleton, Fabienne Wavrant De-Vrieze, John Hardy, Richard Mayeux, Stanley Fahn, Cheryl Waters, Blair Ford, Steven Frucht, Ruth Ottman, Karen Marder

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70 Scopus citations

Abstract

The frequency and relative contribution of DJ-1 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 (IVS1 and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.

Original language	English (US)
Pages (from-to)	796-800
Number of pages	5
Journal	Movement Disorders
Volume	19
Issue number	7
DOIs	https://doi.org/10.1002/mds.20131
State	Published - Jul 2004
Externally published	Yes

Keywords

DJ-1
Early onset
Multiethnic cohort
Mutations
Parkinson's disease

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/mds.20131

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Clark, L. N., Afridi, S., Mejia-Santana, H., Harris, J., Louis, E. D., Cote, L. J., Andrews, H., Singleton, A., De-Vrieze, F. W., Hardy, J., Mayeux, R., Fahn, S., Waters, C., Ford, B., Frucht, S., Ottman, R., & Marder, K. (2004). Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Movement Disorders, 19(7), 796-800. https://doi.org/10.1002/mds.20131

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abstract = "The frequency and relative contribution of DJ-1 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 (IVS1 and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.",

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author = "Clark, {Lorraine N.} and Shehla Afridi and Helen Mejia-Santana and Juliette Harris and Louis, {Elan D.} and Cote, {Lucien J.} and Howard Andrews and Andrew Singleton and De-Vrieze, {Fabienne Wavrant} and John Hardy and Richard Mayeux and Stanley Fahn and Cheryl Waters and Blair Ford and Steven Frucht and Ruth Ottman and Karen Marder",

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AU - Clark, Lorraine N.

AU - Afridi, Shehla

AU - Mejia-Santana, Helen

AU - Harris, Juliette

AU - Louis, Elan D.

AU - Cote, Lucien J.

AU - Andrews, Howard

AU - Singleton, Andrew

AU - De-Vrieze, Fabienne Wavrant

AU - Hardy, John

AU - Mayeux, Richard

AU - Fahn, Stanley

AU - Waters, Cheryl

AU - Ford, Blair

AU - Frucht, Steven

AU - Ottman, Ruth

AU - Marder, Karen

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N2 - The frequency and relative contribution of DJ-1 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 (IVS1 and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.

AB - The frequency and relative contribution of DJ-1 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 (IVS1 and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.

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

Abstract

Keywords

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