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Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
BMC Neurol. 2008 Jan 22; 8:1.BN

Abstract

BACKGROUND

Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe.

METHODS

Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and late-onset familial Portuguese Parkinson disease patients. This series comprises 66 patients selected from a consecutive series of 132 patients. This selection was made in order to include only early onset patients (age at onset below 50 years) or late-onset patients with a positive family history (at least one affected relative). All genes were sequenced bi-directionally, and, additionally, SNCA, PRKN and PINK1 were subjected to gene dosage analysis.

RESULTS

We found mutations both in LRRK2 and PRKN, while the remaining genes yielded no mutations. Seven of the studied patients showed pathogenic mutations, in homozygosity or compound heterozygosity for PRKN, and heterozygosity for LRRK2.

CONCLUSION

Mutations are common in Portuguese patients with Parkinson's disease, and these results clearly have implications not only for the genetic diagnosis, but also for the genetic counseling of these patients.

Authors+Show Affiliations

Center for Neurosciences and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal. brasj@nia.nih.govNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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, N.I.H., Intramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18211709

Citation

Bras, Jose, et al. "Analysis of Parkinson Disease Patients From Portugal for Mutations in SNCA, PRKN, PINK1 and LRRK2." BMC Neurology, vol. 8, 2008, p. 1.
Bras J, Guerreiro R, Ribeiro M, et al. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurol. 2008;8:1.
Bras, J., Guerreiro, R., Ribeiro, M., Morgadinho, A., Januario, C., Dias, M., Calado, A., Semedo, C., Oliveira, C., Hardy, J., & Singleton, A. (2008). Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurology, 8, 1. https://doi.org/10.1186/1471-2377-8-1
Bras J, et al. Analysis of Parkinson Disease Patients From Portugal for Mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurol. 2008 Jan 22;8:1. PubMed PMID: 18211709.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. AU - Bras,Jose, AU - Guerreiro,Rita, AU - Ribeiro,Maria, AU - Morgadinho,Ana, AU - Januario,Cristina, AU - Dias,Margarida, AU - Calado,Ana, AU - Semedo,Cristina, AU - Oliveira,Catarina, AU - Hardy,John, AU - Singleton,Andrew, Y1 - 2008/01/22/ PY - 2007/06/12/received PY - 2008/01/22/accepted PY - 2008/1/24/pubmed PY - 2008/3/28/medline PY - 2008/1/24/entrez SP - 1 EP - 1 JF - BMC neurology JO - BMC Neurol VL - 8 N2 - BACKGROUND: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe. METHODS: Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and late-onset familial Portuguese Parkinson disease patients. This series comprises 66 patients selected from a consecutive series of 132 patients. This selection was made in order to include only early onset patients (age at onset below 50 years) or late-onset patients with a positive family history (at least one affected relative). All genes were sequenced bi-directionally, and, additionally, SNCA, PRKN and PINK1 were subjected to gene dosage analysis. RESULTS: We found mutations both in LRRK2 and PRKN, while the remaining genes yielded no mutations. Seven of the studied patients showed pathogenic mutations, in homozygosity or compound heterozygosity for PRKN, and heterozygosity for LRRK2. CONCLUSION: Mutations are common in Portuguese patients with Parkinson's disease, and these results clearly have implications not only for the genetic diagnosis, but also for the genetic counseling of these patients. SN - 1471-2377 UR - https://www.unboundmedicine.com/medline/citation/18211709/Analysis_of_Parkinson_disease_patients_from_Portugal_for_mutations_in_SNCA_PRKN_PINK1_and_LRRK2_ L2 - https://bmcneurol.biomedcentral.com/articles/10.1186/1471-2377-8-1 DB - PRIME DP - Unbound Medicine ER -