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PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients.
Mov Disord. 2009 Aug 15; 24(11):1693-6.MD

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.

Authors+Show Affiliations

Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, SP, Brazil. cleciojunior@yahoo.com.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19562775

Citation

Godeiro-Junior, Clecio, et al. "PINK1 Mutations in a Brazilian Cohort of Early-onset Parkinson's Disease Patients." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 24, no. 11, 2009, pp. 1693-6.
Godeiro-Junior C, de Carvalho-Aguiar PM, Felício AC, et al. PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients. Mov Disord. 2009;24(11):1693-6.
Godeiro-Junior, C., de Carvalho-Aguiar, P. M., Felício, A. C., Barsottini, O. G., Silva, S. M., Borges, V., Andrade, L. A., & Ferraz, H. B. (2009). PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients. Movement Disorders : Official Journal of the Movement Disorder Society, 24(11), 1693-6. https://doi.org/10.1002/mds.22685
Godeiro-Junior C, et al. PINK1 Mutations in a Brazilian Cohort of Early-onset Parkinson's Disease Patients. Mov Disord. 2009 Aug 15;24(11):1693-6. PubMed PMID: 19562775.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients. AU - Godeiro-Junior,Clecio, AU - de Carvalho-Aguiar,Patricia M, AU - Felício,Andre C, AU - Barsottini,Orlando G P, AU - Silva,Sonia M A, AU - Borges,Vanderci, AU - Andrade,Luiz Augusto F, AU - Ferraz,Henrique Ballalai, PY - 2009/6/30/entrez PY - 2009/6/30/pubmed PY - 2010/1/16/medline SP - 1693 EP - 6 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 24 IS - 11 N2 - 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. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/19562775/PINK1_mutations_in_a_Brazilian_cohort_of_early_onset_Parkinson's_disease_patients_ L2 - https://doi.org/10.1002/mds.22685 DB - PRIME DP - Unbound Medicine ER -