GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Impaired cognition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Further meta-analyses showed that GBA variants rs76763715 (p < 0.001) and rs421016 (p = 0.001) were significantly associated with more cognitive impairment in people with PD. 31292011 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Patients carrying severe GBA1 mutations showed (1) an earlier age at onset, (2) more pronounced cognitive decline and higher prevalence of rapid eye movement sleep behavior disorder, and (3) reduced CSF levels of total alpha-synuclein. 31670439 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE This study reports for the first time cognitive impairment by two independent behavioural tests in heterozygous GBA1 mutant mice (D409V/WT) which demonstrate significant cognitive impairment by the age of 12 months. 31299418 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Also, we replicated previous reports of GBA coding variants (rs2230288: p.E365K; rs75548401: rs75548401" genes_norm="2629">p.T408M) being associated with greater motor and cognitive decline over time, and an APOE E4 tagging variant (rs429358) being associated with greater cognitive deficits in patients. 31505070 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE At a mean follow-up of 7.5 years after DBS, cognitive impairment was more prevalent (70% vs 19%) and more severe in GBA mutation carriers compared to non-carriers (60% vs 6% were severely impaired). 28777757 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE GBA mutations are associated with a distinct profile of cognitive impairment and a greater prevalence of depression. 28802919 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE PD patient who carry mutations in the GBA gene demonstrates more significant cognitive decline compared to idiopathic PD patients. 27401793 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor. 27571329 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE The discovery that E326K negatively impacts cognitive performance approximately doubles the proportion of PD patients we now recognize are at risk for more severe GBA-related cognitive deficits. 26296077 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Mutations in the GBA gene were associated with more severe motor and cognitive dysfunction, supporting a specific contribution of the GBA gene or lysosome function to this clinical syndrome. 27723861 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Mutations in the GBA gene pathogenic for neuropathic GD and complex alleles shift longitudinal cognitive decline in PD into "high gear." 27717005 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Individuals with mutation in the lysosomal enzyme glucocerebrosidase (GBA) gene are at significantly high risk of developing Parkinson's disease with cognitive deficit. 24919969 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE In addition, genetic variation in the apolipoprotein E (APOE), catechol-O-methyltransferase (COMT), microtubule-associated protein tau (MAPT), and glucocerebrosidase (GBA) genes may confer risk for cognitive impairment in PD; and gait disturbance may also indicate an increased risk for dementia. 24757111 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Compared with patients having PD without GBA mutations, patients having PD with GBA mutations were younger at disease onset (P = .04) and were more likely to demonstrate cognitive dysfunction (P = .001). 23699752 2013
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Importantly, hippocampal expression of glucocerebrosidase in Gba1(D409V/D409V) mice (starting at 4 or 12 mo of age) also reversed their cognitive impairment when examined using a novel object recognition test. 23297226 2013
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Patients with GBA mutations generally have an earlier onset of Parkinson disease and more cognitive impairment than those without GBA mutations. 22843412 2012