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High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain).
Mov Disord. 2011 Nov; 26(13):2343-6.MD

Abstract

The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at-risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age-specific incidence of PD by the Kaplan-Meier method. Thirty-two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one-half of G2019S mutation carriers manifest motor symptoms of PD.

Authors+Show Affiliations

Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

21954089

Citation

Sierra, María, et al. "High Frequency and Reduced Penetrance of LRRK2 G2019S Mutation Among Parkinson's Disease Patients in Cantabria (Spain)." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 26, no. 13, 2011, pp. 2343-6.
Sierra M, González-Aramburu I, Sánchez-Juan P, et al. High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain). Mov Disord. 2011;26(13):2343-6.
Sierra, M., González-Aramburu, I., Sánchez-Juan, P., Sánchez-Quintana, C., Polo, J. M., Berciano, J., Combarros, O., & Infante, J. (2011). High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain). Movement Disorders : Official Journal of the Movement Disorder Society, 26(13), 2343-6. https://doi.org/10.1002/mds.23965
Sierra M, et al. High Frequency and Reduced Penetrance of LRRK2 G2019S Mutation Among Parkinson's Disease Patients in Cantabria (Spain). Mov Disord. 2011;26(13):2343-6. PubMed PMID: 21954089.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain). AU - Sierra,María, AU - González-Aramburu,Isabel, AU - Sánchez-Juan,Pascual, AU - Sánchez-Quintana,Coro, AU - Polo,José Miguel, AU - Berciano,José, AU - Combarros,Onofre, AU - Infante,Jon, Y1 - 2011/09/27/ PY - 2011/06/04/received PY - 2011/08/04/revised PY - 2011/08/29/accepted PY - 2011/9/29/entrez PY - 2011/9/29/pubmed PY - 2012/4/6/medline SP - 2343 EP - 6 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 26 IS - 13 N2 - The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at-risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age-specific incidence of PD by the Kaplan-Meier method. Thirty-two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one-half of G2019S mutation carriers manifest motor symptoms of PD. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/21954089/High_frequency_and_reduced_penetrance_of_LRRK2_G2019S_mutation_among_Parkinson's_disease_patients_in_Cantabria__Spain__ L2 - https://doi.org/10.1002/mds.23965 DB - PRIME DP - Unbound Medicine ER -