Funding agencies: This study was funded in part by a grant from the Consejo Nacional de Ciencia y Tecnología de México (CONACYT 6836 and 140190).
Version of Record online: 6 JUL 2012
Copyright © 2012 Movement Disorder Society
Volume 27, Issue 8, pages 1047–1051, July 2012
How to Cite
Camacho, J. L. G., Jaramillo, N. M., Gómez, P. Y., Violante, M. R., Woehrlen, C. B., Vilatela, Ma. E. A. and López López, M. (2012), High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease. Mov. Disord., 27: 1047–1051. doi: 10.1002/mds.25030
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue online: 17 JUL 2012
- Version of Record online: 6 JUL 2012
- Manuscript Accepted: 8 APR 2012
- Manuscript Revised: 7 MAR 2012
- Manuscript Received: 16 JAN 2012
- Parkinson's disease;
- exon rearrangements
Parkin mutations in patients with early-onset Parkinson's disease (EOPD) are estimated to occur in 49% of familial cases and 18% of sporadic cases.
We analyzed the entire sequence-coding region and dosage mutations of parkin in 63 Mexican-mestizo EOPD patients and 120 controls.
Parkin mutations were present in 34 patients (54.0%). Exon rearrangements, predominantly spanning exons 9 and 12 (31.7% and 19.0%, respectively) were present in 32 patients, with 17.5% carrying simple heterozygous and 25.4% carrying compound heterozygous parkin mutations.
A higher frequency of parkin exon rearrangements than of sequence mutations was observed. Patients with parkin exons 9 and 12 rearrangements showed a later age at onset than did cases with other regions affected (40.3 ± 4.5 vs 30.1 ± 8.8; P = .005), suggesting a mutational hot spot in the etiology of Mexican-mestizo patients with EOPD. To our knowledge, this study represents the largest sampling of Mexican-mestizo patients with EOPD cases for which parkin sequence and dosage alterations were analyzed. © 2012 Movement Disorder Society