Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Federica PerroneMaria BjerkeElisabeth HensAnne SiebenMaarten TimmersArne De RoeckRik VandenbergheKristel SleegersJean-Jacques MartinPeter P De DeynSebastiaan EngelborghsJulie van der ZeeChristine Van BroeckhovenRita Cacacenull null

Published in: Alzheimer's research & therapy (2020)

This is the first time that Aβ1-43 levels were analysed in CSF of AD patients with genetic mutations in the AD causal genes. The observed reduction of Aβ1-43 in APP and PSENs carriers highlights the pathogenic role of longer Aβ peptides in AD pathogenesis. Alterations in Aβ1-43 could prove useful in understanding the pathogenicity of unclear APP and PSENs variants, a critical step towards a more efficient genetic counselling.

Keyphrases

cerebrospinal fluid
genome wide
early onset
copy number
dna methylation
biofilm formation
gene expression
pseudomonas aeruginosa
amino acid
cystic fibrosis