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Is the G2019S LRRK2 mutation common in all southern European populations?
J Clin Neurosci. 2008 Sep; 15(9):1027-30.JC

Abstract

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene, especially the G2019S mutation, have been identified as a common cause of Parkinson's disease in southern European and other Mediterranean populations (Iberians, Ashkenazi Jews and North African Arabs). Owing to the geographic and historic vicinity of Greece with areas of high prevalence of LRRK2 mutations we studied the frequency of the G2019S mutation in a well characterized cohort of familial and sporadic Parkinson's disease patients of Greek origin from mainland Greece. The prevalence of the LRRK2 R1441C mutation and the G2385R Asian polymorphism was also determined. We identified no patients with any of the studied mutations/polymorphisms. Very low prevalence of the LRRK2 G2019S mutation has been reported in other southern European populations. LRRK2 mutations appear to be limited in certain populations and differing ancestry and founder effects may explain the reported variability. Accurate estimations of the frequency and penetrance of different LRRK2 mutations are essential for correct and cost-efficient use of genetic testing and proper genetic counseling of patients with Parkinson's disease.

Authors+Show Affiliations

Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida 33136, USA. spapapetropoulos@med.miami.eduNo 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

18617409

Citation

Papapetropoulos, Spiridon, et al. "Is the G2019S LRRK2 Mutation Common in All Southern European Populations?" Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, vol. 15, no. 9, 2008, pp. 1027-30.
Papapetropoulos S, Adi N, Shehadeh L, et al. Is the G2019S LRRK2 mutation common in all southern European populations? J Clin Neurosci. 2008;15(9):1027-30.
Papapetropoulos, S., Adi, N., Shehadeh, L., Bishopric, N., Singer, C., Argyriou, A. A., & Chroni, E. (2008). Is the G2019S LRRK2 mutation common in all southern European populations? Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 15(9), 1027-30. https://doi.org/10.1016/j.jocn.2007.08.013
Papapetropoulos S, et al. Is the G2019S LRRK2 Mutation Common in All Southern European Populations. J Clin Neurosci. 2008;15(9):1027-30. PubMed PMID: 18617409.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Is the G2019S LRRK2 mutation common in all southern European populations? AU - Papapetropoulos,Spiridon, AU - Adi,Nikhil, AU - Shehadeh,Lina, AU - Bishopric,Nanette, AU - Singer,Carlos, AU - Argyriou,Andreas A, AU - Chroni,Elizabeth, Y1 - 2008/07/09/ PY - 2007/03/19/received PY - 2007/06/14/revised PY - 2007/08/21/accepted PY - 2008/7/12/pubmed PY - 2008/10/25/medline PY - 2008/7/12/entrez SP - 1027 EP - 30 JF - Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia JO - J Clin Neurosci VL - 15 IS - 9 N2 - Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene, especially the G2019S mutation, have been identified as a common cause of Parkinson's disease in southern European and other Mediterranean populations (Iberians, Ashkenazi Jews and North African Arabs). Owing to the geographic and historic vicinity of Greece with areas of high prevalence of LRRK2 mutations we studied the frequency of the G2019S mutation in a well characterized cohort of familial and sporadic Parkinson's disease patients of Greek origin from mainland Greece. The prevalence of the LRRK2 R1441C mutation and the G2385R Asian polymorphism was also determined. We identified no patients with any of the studied mutations/polymorphisms. Very low prevalence of the LRRK2 G2019S mutation has been reported in other southern European populations. LRRK2 mutations appear to be limited in certain populations and differing ancestry and founder effects may explain the reported variability. Accurate estimations of the frequency and penetrance of different LRRK2 mutations are essential for correct and cost-efficient use of genetic testing and proper genetic counseling of patients with Parkinson's disease. SN - 0967-5868 UR - https://www.unboundmedicine.com/medline/citation/18617409/Is_the_G2019S_LRRK2_mutation_common_in_all_southern_European_populations L2 - https://linkinghub.elsevier.com/retrieve/pii/S0967-5868(07)00529-2 DB - PRIME DP - Unbound Medicine ER -