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The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.
J Neural Transm (Vienna). 2009 Nov; 116(11):1473-82.JN

Abstract

Mutations in the leucine rich repeat kinase 2 gene (LRRK2) are recognized as the most common cause of genetic Parkinsonism to date. The G2019S mutation has been implicated as an important determinant of Parkinson's disease (PD) in both Ashkenazi Jewish and North African Arab populations with carrier frequency of 29.7% among familial and 6% in sporadic Ashkenazi Jewish PD cases. PD patients with the G2019S mutation display similar clinical characteristics to patients with sporadic PD. While the function of the LRRK2 protein has yet to be fully determined, its distribution coincides with brain areas most affected by PD. The G2019S mutation is believed to be responsible for up-regulation of LRRK2 kinase activity, which may ultimately play a role in neuronal loss. The utility of LRRK2 G2019S screening in family members of Ashkenazi PD patients is discussed. LRRK2 G2019S mutation carriers without PD may be an ideal population for the study of possible neuroprotective strategies as they become available, and for furthering the understanding of the pathogenesis and long-term clinical outcomes of the disease.

Authors+Show Affiliations

Department of Neurology, Sourasky Medical Center, Tel-Aviv, Israel. avnerth@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

19756366

Citation

Thaler, Avner, et al. "The LRRK2 G2019S Mutation as the Cause of Parkinson's Disease in Ashkenazi Jews." Journal of Neural Transmission (Vienna, Austria : 1996), vol. 116, no. 11, 2009, pp. 1473-82.
Thaler A, Ash E, Gan-Or Z, et al. The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. J Neural Transm (Vienna). 2009;116(11):1473-82.
Thaler, A., Ash, E., Gan-Or, Z., Orr-Urtreger, A., & Giladi, N. (2009). The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. Journal of Neural Transmission (Vienna, Austria : 1996), 116(11), 1473-82. https://doi.org/10.1007/s00702-009-0303-0
Thaler A, et al. The LRRK2 G2019S Mutation as the Cause of Parkinson's Disease in Ashkenazi Jews. J Neural Transm (Vienna). 2009;116(11):1473-82. PubMed PMID: 19756366.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. AU - Thaler,Avner, AU - Ash,Elissa, AU - Gan-Or,Ziv, AU - Orr-Urtreger,Avi, AU - Giladi,Nir, PY - 2009/03/31/received PY - 2009/08/22/accepted PY - 2009/9/17/entrez PY - 2009/9/17/pubmed PY - 2010/2/13/medline SP - 1473 EP - 82 JF - Journal of neural transmission (Vienna, Austria : 1996) JO - J Neural Transm (Vienna) VL - 116 IS - 11 N2 - Mutations in the leucine rich repeat kinase 2 gene (LRRK2) are recognized as the most common cause of genetic Parkinsonism to date. The G2019S mutation has been implicated as an important determinant of Parkinson's disease (PD) in both Ashkenazi Jewish and North African Arab populations with carrier frequency of 29.7% among familial and 6% in sporadic Ashkenazi Jewish PD cases. PD patients with the G2019S mutation display similar clinical characteristics to patients with sporadic PD. While the function of the LRRK2 protein has yet to be fully determined, its distribution coincides with brain areas most affected by PD. The G2019S mutation is believed to be responsible for up-regulation of LRRK2 kinase activity, which may ultimately play a role in neuronal loss. The utility of LRRK2 G2019S screening in family members of Ashkenazi PD patients is discussed. LRRK2 G2019S mutation carriers without PD may be an ideal population for the study of possible neuroprotective strategies as they become available, and for furthering the understanding of the pathogenesis and long-term clinical outcomes of the disease. SN - 1435-1463 UR - https://www.unboundmedicine.com/medline/citation/19756366/The_LRRK2_G2019S_mutation_as_the_cause_of_Parkinson's_disease_in_Ashkenazi_Jews_ L2 - https://doi.org/10.1007/s00702-009-0303-0 DB - PRIME DP - Unbound Medicine ER -