Brief Report

PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients†

  1. Clecio Godeiro-Junior MD1,2,*,
  2. Patricia M. de Carvalho-Aguiar MD, PhD1,2,
  3. Andre C. Felício MD1,2,
  4. Orlando G.P. Barsottini MD, PhD1,2,
  5. Sonia M.A. Silva MD, PhD1,
  6. Vanderci Borges MD, PhD1,
  7. Luiz Augusto F. Andrade MD, PhD2,
  8. Henrique Ballalai Ferraz MD, PhD1

Article first published online: 26 JUN 2009

DOI: 10.1002/mds.22685

Issue

Movement Disorders

Movement Disorders

Volume 24, Issue 11, pages 1693–1696, 15 August 2009

Additional Information

How to Cite

Godeiro-Junior, C., de Carvalho-Aguiar, P. M., Felício, A. C., Barsottini, O. G., Silva, S. M., Borges, V., Andrade, L. A. F. and Ferraz, H. B. (2009), PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients. Movement Disorders, 24: 1693–1696. doi: 10.1002/mds.22685

Author Information

  1. 1

    Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo-SP, Brazil

  2. 2

    Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil

*Rua Napoleão de Barros, 566, ap. 93, São Paulo, São Paulo, Brazil 04024-002

  1. †

    Potential conflict of interest: Nothing to report.

Publication History

  1. Issue published online: 26 AUG 2009
  2. Article first published online: 26 JUN 2009
  3. Manuscript Accepted: 27 MAY 2009
  4. Manuscript Revised: 28 FEB 2009
  5. Manuscript Received: 12 NOV 2008

Funded by

  • Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
  • Fondation Philanthropique Edmond J. Safra

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Keywords:

  • Parkinson's disease;
  • early-onset;
  • PINK1

Abstract

Data on the frequency of PINK1 mutations in Brazilian patients with early-onset Parkinson's disease (EOPD) are lacking. The aim of this report was to investigate mutations of the PINK1 gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD patients were included. All eight PINK1 exons and exon-intron boundaries were analyzed. We did not find any pathogenic mutation of PINK1 in our cohort. Single Nucleotide Polymorphisms (SNP) were identified in 46.7% of the patients and in 45.9% of controls (P = 0.9). The SNPs identified in our patients had already been described in previous reports. The results of our study support the hypothesis that mutations in PINK1 may not be a relevant cause of EOPD. In Brazil, if we consider only EOPD patients, it seems that parkin and LRRK2 mutations are more common. © 2009 Movement Disorder Society

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