Fall risk and gait in Parkinson's disease: The role of the LRRK2 G2019S mutation

2013 ◽  
Vol 28 (12) ◽  
pp. 1683-1690 ◽  
Author(s):  
Anat Mirelman ◽  
Talia Heman ◽  
Kira Yasinovsky ◽  
Avner Thaler ◽  
Tanya Gurevich ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Fall Risk ◽  
G2019s Mutation ◽  
Lrrk2 G2019s

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

2006 ◽  
Vol 21 (8) ◽  
pp. 1232-1235 ◽  
Author(s):  
Roberta Marongiu ◽  
Daniele Ghezzi ◽  
Tamara Ialongo ◽  
Francesco Soleti ◽  
Antonio Elia ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
G2019s Mutation ◽  
Lrrk2 G2019s

scholarly journals Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

2010 ◽  
Vol 19 (10) ◽  
pp. 1998-2004 ◽  
Author(s):  
Suzanne Lesage ◽  
Etienne Patin ◽  
Christel Condroyer ◽  
Anne-Louise Leutenegger ◽  
Ebba Lohmann ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
G2019s Mutation ◽  
Lrrk2 G2019s

Ashkenazi Parkinson’s disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries

Neurogenetics ◽  
2009 ◽  
Vol 10 (4) ◽  
pp. 355-358 ◽  
Author(s):  
Anat Bar-Shira ◽  
Carolyn M. Hutter ◽  
Nir Giladi ◽  
Cyrus P. Zabetian ◽  
Avi Orr-Urtreger
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
G2019s Mutation ◽  
Lrrk2 G2019s ◽  
Common Founder

scholarly journals Pharmacological rescue of impaired mitophagy in Parkinson’s disease-related LRRK2 G2019S knock-in mice

2020 ◽  
Author(s):  
Francois Singh ◽  
Alan R. Prescott ◽  
Graeme Ball ◽  
Alastair D. Reith ◽  
Ian G. Ganley
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Kinase Inhibitors ◽  
Kinase Inhibitor ◽  
Neurodegenerative Disorder ◽  
Reporter Mice ◽  
Lrrk2 G2019s ◽  
Lrrk2 Kinase

AbstractParkinson’s disease (PD) is a major and progressive neurodegenerative disorder, yet the biological mechanisms involved in its aetiology are poorly understood. Evidence links this disorder with mitochondrial dysfunction and/or impaired lysosomal degradation – key features of the autophagy of mitochondria, known as mitophagy. Here we investigated the role of LRRK2, a protein kinase frequently mutated in PD, on this process in vivo. Using mitophagy and autophagy reporter mice, bearing either knockout of LRRK2 or expressing the pathogenic kinase-activating G2019S LRRK2 mutation, we found that basal mitophagy was specifically altered in clinically relevant cells and tissues. Our data show that basal mitophagy inversely correlates with LRRK2 kinase activity in vivo. In support of this, use of distinct LRRK2 kinase inhibitors in cells increased basal mitophagy, and a CNS penetrant LRRK2 kinase inhibitor, GSK3357679A, rescued the mitophagy defects observed in LRRK2 G2019S mice. This study provides the first in vivo evidence that pathogenic LRRK2 directly impairs basal mitophagy, a process with strong links to idiopathic Parkinson’s disease, and demonstrates that pharmacological inhibition of LRRK2 is a rational mitophagy-rescue approach and potential PD therapy.

3.049 LEVODOPA-INDUCED DYSKINESIA IN PARKINSON'S DISEASE PATIENTS CARRYING THE LEUCINE-RICH REPEAT KINASE 2 (LRRK2) G2019S MUTATION

2012 ◽  
Vol 18 ◽  
pp. S181
Author(s):  
G. Yahalom ◽  
N. Kaplan ◽  
A. Vituri ◽  
O.S. Cohen ◽  
R. Inzelberg ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Leucine Rich Repeat ◽  
G2019s Mutation ◽  
Lrrk2 G2019s

The LRRK2 G2019S mutation status does not affect the outcome of subthalamic stimulation in patients with Parkinson's disease

2013 ◽  
Vol 19 (11) ◽  
pp. 1053-1056 ◽  
Author(s):  
Lior Greenbaum ◽  
Simon D. Israeli-Korn ◽  
Oren S. Cohen ◽  
Sandra Elincx-Benizri ◽  
Gilad Yahalom ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mutation Status ◽  
G2019s Mutation ◽  
Subthalamic Stimulation ◽  
Lrrk2 G2019s

LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson’s disease patients

2010 ◽  
Vol 117 (7) ◽  
pp. 847-853 ◽  
Author(s):  
Soraya Bardien ◽  
Angelica Marsberg ◽  
Rowena Keyser ◽  
Debbie Lombard ◽  
Suzanne Lesage ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
South African ◽  
Mutation Frequency ◽  
G2019s Mutation ◽  
Haplotype Data ◽  
Lrrk2 G2019s

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: Clinical and demographic characteristics

2013 ◽  
Vol 537 ◽  
pp. 1-5 ◽  
Author(s):  
Emilia Mabel Gatto ◽  
Virginia Parisi ◽  
Daniela Paola Converso ◽  
Juan José Poderoso ◽  
María Cecilia Carreras ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Demographic Characteristics ◽  
G2019s Mutation ◽  
Lrrk2 G2019s
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