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Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
Mov Disord. 2010 Oct 30; 25(14):2340-5.MD

Abstract

The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance.

Authors+Show Affiliations

Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain. javier.ruizmartinez@osakidetza.netNo 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, Non-U.S. Gov't

Language

eng

PubMed ID

20721916

Citation

Ruiz-Martínez, Javier, et al. "Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain)." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 25, no. 14, 2010, pp. 2340-5.
Ruiz-Martínez J, Gorostidi A, Ibañez B, et al. Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain). Mov Disord. 2010;25(14):2340-5.
Ruiz-Martínez, J., Gorostidi, A., Ibañez, B., Alzualde, A., Otaegui, D., Moreno, F., López de Munain, A., Bergareche, A., Gómez-Esteban, J. C., & Martí Massó, J. F. (2010). Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain). Movement Disorders : Official Journal of the Movement Disorder Society, 25(14), 2340-5. https://doi.org/10.1002/mds.23278
Ruiz-Martínez J, et al. Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain). Mov Disord. 2010 Oct 30;25(14):2340-5. PubMed PMID: 20721916.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain). AU - Ruiz-Martínez,Javier, AU - Gorostidi,Ana, AU - Ibañez,Berta, AU - Alzualde,Ainhoa, AU - Otaegui,David, AU - Moreno,Fermin, AU - López de Munain,Adolfo, AU - Bergareche,Alberto, AU - Gómez-Esteban,Juan Carlos, AU - Martí Massó,José F, PY - 2010/8/20/entrez PY - 2010/8/20/pubmed PY - 2011/2/23/medline SP - 2340 EP - 5 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 25 IS - 14 N2 - The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/20721916/Penetrance_in_Parkinson's_disease_related_to_the_LRRK2_R1441G_mutation_in_the_Basque_country__Spain__ L2 - https://doi.org/10.1002/mds.23278 DB - PRIME DP - Unbound Medicine ER -