PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Amnesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002622
Disease: Amnesia
Amnesia 		0.020 GeneticVariation disease BEFREE We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss. 22531416 2012
CUI: C0002622
Disease: Amnesia
Amnesia 		0.020 Biomarker disease BEFREE Recent studies have revealed that forebrain specific conditional knockouts of PS1 and PS2 genes (cPSKO) cause both neuronal degeneration and memory loss without evidence of formation of amyloid plaques. 17981591 2008