Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE The presence of hyposmia and of neuropsychiatric, dysautonomic and sleep disturbances was assessed in 33 LRRK2-G2019S-PD patients by standardized questionnaires and validated scales. 25330404 2015
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE To further characterize mitochondrial dysfunction in LRRK2(G2019S) mutant Parkinson disease (PD) patient tissue (M-LRRK2(G2019S)), determine whether ursodeoxycholic acid (UDCA) also exerts a beneficial effect on mitochondrial dysfunction in nonmanifesting LRRK2(G2019S) mutation carriers (NM-LRRK2(G2019S)), and assess UDCA for its beneficial effect on neuronal dysfunction in vivo. 26253449 2015
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE We studied 25 PD patients: 12 with the LRRK2 mutation (6 G2019S and 6 R1441G), and 13 with iPD. 23764467 2014
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE Our findings indicate that the LRRK2 kinase activity is critical for neurodegeneration caused by R1441C and G2019S mutations, suggesting that kinase inhibition of LRRK2 may represent a promising therapeutic strategy for PD. 23065705 2013
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE To gain insight into systemic molecular events associated with an age-related neurodegenerative disorder, we compared gene expression patterns in peripheral blood mononuclear cells (PBMCs) sampled from elderly, healthy controls and from Parkinson's disease (PD) patients carrying the most frequently found mutation of the LRRK2 gene (G2019S). 20096956 2011
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE Genetic testing for G2019S in sporadic late-onset Parkinson's disease can be considered in some situations and may be useful in populations with high carrier status. 19804413 2010
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE The Leucine-Rich Repeat Kinase 2 (LRRK2) Gly2019Ser mutation is frequent among Parkinson's disease (PD) patients from the Arab, Jewish, and Iberian populations, while another mutation, Arg1441Gly, is common in the Basque population. 17064949 2007
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE The G2019S mutation is a risk factor in both early- and late-onset Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease. 17050822 2006
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.090 GeneticVariation BEFREE The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. 16272257 2006