PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Cotton wool plaques ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE Finally, similarly as the cotton wool plaques in AD resulting from exon 9 deletion in the presenilin-1 gene, the Arctic plaques induced only modest glial and inflammatory tissue reaction. 24252272 2013
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE Most of the "functional" mutations for ER Ca2+ leak were clustered in the exon 8-9 area of PSEN1 gene and segregated with the cotton wool plaques and spastic paraparesis clinical phenotype occasionally observed in PS1 FAD patients. 20634584 2010
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. 20460383 2010
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE The PSEN1 AD mutations giving rise to CWP produce unusually high levels of the amyloid beta peptide (Abeta) ending at position 42 or 43, and the main component of CWP is amino-terminally truncated forms of amyloid beta peptide starting after the alternative beta-secretase cleavage site at position 11. 17995932 2008
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE Although beta-amyloid (Abeta) plaques in brain tissue are characteristic of AD patients, space occupying "cotton-wool" plaques (CWPs) lacking dense Abeta cores have also been described in patients with mutations in exon 9 of the PS-1 gene. 17545141 2007
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis. 17645236 2007
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. 16941492 2006
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE Our results indicate that amino-terminally truncated Abeta peptide species ending at residues 42 and 43 are the main Abeta peptides deposited in brain parenchyma and LMD-CWPs in association with the PSEN1 V261I mutation. 16086583 2005
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 Biomarker phenotype BEFREE We considered that the mutant PSEN1 might play an important role in the pathogenetic process of both aggregation of alpha-synuclein into Lewy bodies and deposition of beta-amyloid into cotton wool plaques. 15732120 2005
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 Biomarker phenotype BEFREE In conclusion, (1) a frontal lobe syndrome-like personality change may be one of the characteristic clinical features of early-onset CWP-AD, (2) the deposition pattern of Abeta40 and Abeta42 in CWP-AD is more variable than that of presenilin-1-linked cases, (3) Abeta deposition can result in development of dementia without tau pathology, and (4) CWP-AD with LBs and several other neurodegenerative disorders with LBs share a common process involving alpha-synuclein and NAC deposition. 12883830 2003
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. 12111359 2002
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		0.100 GeneticVariation phenotype BEFREE Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques. 11489138 2001