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

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 gene...

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Published in:Movement disorders 2004-07, Vol.19 (7), p.796-800
Main Authors: Clark, Lorraine N., Afridi, Shehla, Mejia-Santana, Helen, Harris, Juliette, Louis, Elan D., Cote, Lucien J., Andrews, Howard, Singleton, Andrew, Wavrant De-Vrieze, Fabienne, Hardy, John, Mayeux, Richard, Fahn, Stanley, Waters, Cheryl, Ford, Blair, Frucht, Steven, Ottman, Ruth, Marder, Karen
Format: Article
Language:English
Subjects:
Adult
Aging - physiology
Biological and medical sciences
Cohort Studies
Demography
DJ-1
DNA Primers - genetics
early-onset
Exons - genetics
Female
Gene Frequency - genetics
Humans
Intracellular Signaling Peptides and Proteins
Male
Medical sciences
Middle Aged
multiethnic cohort
Mutation, Missense - genetics
mutations
Neurology
Oncogene Proteins - genetics
Parkinson Disease - epidemiology
Parkinson Disease - ethnology
Parkinson Disease - genetics
Parkinson's disease
Point Mutation - genetics
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Protein Deglycase DJ-1
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Summary: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. © 2004 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20131