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Genetic analysis of LRRK2 mutations in patients with Parkinson disease.
J Neurol Sci. 2006 Dec 21; 251(1-2):102-6.JN

Abstract

In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R1441), have been identified as important genetic causes of Parkinson disease (PD). To evaluate the frequency of R1441C/G/H and G2019S mutations in the LRRK2 gene in North American patients with PD and to explore genotype-phenotype correlations, we screened 496 PD patients from North America. One Hispanic female was heterozygous for the LRRK2 R1441G mutation, and six other cases including 2 non-Jewish/non-Hispanic whites, 3 Ashkenazi Jewish, and 1 Hispanic, were found to be heterozygous for the LRRK2 G2019S mutation. G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G. All six G2019S carriers shared a common haplotype with that observed in Europeans and North Africans. The clinical features of all seven cases with LRRK2 mutation were quite broad and included early and late disease onset. These finding may provide new insights into the cause and diagnosis of PD and have implications for genetic counseling.

Authors+Show Affiliations

Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.No 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., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17097110

Citation

Deng, Hao, et al. "Genetic Analysis of LRRK2 Mutations in Patients With Parkinson Disease." Journal of the Neurological Sciences, vol. 251, no. 1-2, 2006, pp. 102-6.
Deng H, Le W, Guo Y, et al. Genetic analysis of LRRK2 mutations in patients with Parkinson disease. J Neurol Sci. 2006;251(1-2):102-6.
Deng, H., Le, W., Guo, Y., Hunter, C. B., Xie, W., Huang, M., & Jankovic, J. (2006). Genetic analysis of LRRK2 mutations in patients with Parkinson disease. Journal of the Neurological Sciences, 251(1-2), 102-6.
Deng H, et al. Genetic Analysis of LRRK2 Mutations in Patients With Parkinson Disease. J Neurol Sci. 2006 Dec 21;251(1-2):102-6. PubMed PMID: 17097110.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic analysis of LRRK2 mutations in patients with Parkinson disease. AU - Deng,Hao, AU - Le,WeiDong, AU - Guo,Yi, AU - Hunter,Christine B, AU - Xie,WenJie, AU - Huang,MaoSheng, AU - Jankovic,Joseph, Y1 - 2006/11/09/ PY - 2006/02/24/received PY - 2006/08/07/revised PY - 2006/09/11/accepted PY - 2006/11/14/pubmed PY - 2007/2/23/medline PY - 2006/11/14/entrez SP - 102 EP - 6 JF - Journal of the neurological sciences JO - J Neurol Sci VL - 251 IS - 1-2 N2 - In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R1441), have been identified as important genetic causes of Parkinson disease (PD). To evaluate the frequency of R1441C/G/H and G2019S mutations in the LRRK2 gene in North American patients with PD and to explore genotype-phenotype correlations, we screened 496 PD patients from North America. One Hispanic female was heterozygous for the LRRK2 R1441G mutation, and six other cases including 2 non-Jewish/non-Hispanic whites, 3 Ashkenazi Jewish, and 1 Hispanic, were found to be heterozygous for the LRRK2 G2019S mutation. G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G. All six G2019S carriers shared a common haplotype with that observed in Europeans and North Africans. The clinical features of all seven cases with LRRK2 mutation were quite broad and included early and late disease onset. These finding may provide new insights into the cause and diagnosis of PD and have implications for genetic counseling. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/17097110/Genetic_analysis_of_LRRK2_mutations_in_patients_with_Parkinson_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-510X(06)00400-X DB - PRIME DP - Unbound Medicine ER -