Get access

High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease§

Authors

  • Jorge Luis Guerrero Camacho BSc,

    1. Neurogenetics Department, National Institute of Neurology and Neurosurgery “Manuel Velasco Suárez,” Mexico City, Mexico
    2. PhD candidate in Biological Sciences, Universidad Autónoma Metropolitana, Mexico City, Mexico
    Search for more papers by this author
  • Nancy Monroy Jaramillo MSc,

    1. Neurogenetics Department, National Institute of Neurology and Neurosurgery “Manuel Velasco Suárez,” Mexico City, Mexico
    Search for more papers by this author
  • Petra Yescas Gómez PhD,

    1. Neurogenetics Department, National Institute of Neurology and Neurosurgery “Manuel Velasco Suárez,” Mexico City, Mexico
    Search for more papers by this author
  • Mayela Rodríguez Violante MD,

    1. Movement Disorders Clinic, National Institute of Neurology and Neurosurgery “Manuel Velasco Suárez,” Mexico City, Mexico
    Search for more papers by this author
  • Catherine Boll Woehrlen MD, PhD,

    1. Neurology Division, National Institute of Neurology and Neurosurgery “Manuel Velasco Suárez,” Mexico City, Mexico
    Search for more papers by this author
  • Ma. Elisa Alonso Vilatela MD,

    1. Neurogenetics Department, National Institute of Neurology and Neurosurgery “Manuel Velasco Suárez,” Mexico City, Mexico
    Search for more papers by this author
  • Marisol López López PhD

    Corresponding author
    1. Biological Systems Department, Universidad Autónoma Metropolitana, Campus Xochimilco, Mexico City, Mexico
    • Biological Systems Department, Universidad Autónoma Metropolitana, Campus Xochimilco, Calzada del Hueso 1100, Col.Villa Quietud, Coyoacán, Mexico City, 04960, Mexico
    Search for more papers by this author

  • 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).

  • 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.

Abstract

Background:

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.

Methods:

We analyzed the entire sequence-coding region and dosage mutations of parkin in 63 Mexican-mestizo EOPD patients and 120 controls.

Results:

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.

Conclusions:

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

Ancillary