rs661, PSEN1

N. diseases: 2
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE With this goal in mind, asymptomatic (n = 5) and symptomatic (n = 5) carriers of presenilin-1 (PS1) mutations (C410Y or A426P) that lead to early-onset AD and noncarrier controls from both kindreds (n = 2) were studied with PiB-PET imaging and compared with sporadic AD subjects (n = 12) and controls from the general population (n = 18). 17553989 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. 17545141 2007
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.010 GeneticVariation BEFREE Here, we sought to detect signs of FAD in presymptomatic carriers of the PSEN1 mutation (C410Y) by use of a neuropsychological examination, functional MRI during learning and memory tasks and MRI volumetry. 17012294 2006