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Journal of Neural Transmission

Erschienen in:

01.11.2009 | Movement Disorders - Review Article

The LRRK2 G2019S mutation as the cause of Parkinson’s disease in Ashkenazi Jews

verfasst von: Avner Thaler, Elissa Ash, Ziv Gan-Or, Avi Orr-Urtreger, Nir Giladi

Erschienen in: Journal of Neural Transmission | Ausgabe 11/2009

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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.

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Titel: The LRRK2 G2019S mutation as the cause of Parkinson’s disease in Ashkenazi Jews
verfasst von: Avner Thaler
Elissa Ash
Ziv Gan-Or
Avi Orr-Urtreger
Nir Giladi
Publikationsdatum: 01.11.2009
Verlag: Springer Vienna
Erschienen in: Journal of Neural Transmission / Ausgabe 11/2009
Print ISSN: 0300-9564
Elektronische ISSN: 1435-1463
DOI: https://doi.org/10.1007/s00702-009-0303-0

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