Format

Send to

Choose Destination
Mov Disord. 2004 Jul;19(7):796-800. doi: 10.1002/mds.20131.

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

Author information

1
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA.
2
Department of Pathology, Columbia University, New York, New York, USA.
3
Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA.
4
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
5
Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
6
Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
7
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
8
Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
9
The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA.

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.

PMID:
15254937
DOI:
10.1002/mds.20131
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center