P4‐293: New evidence of temporal kinetics of CSF Aβ1‐38/1‐40/1‐42 and phosphorylated tau in seven FAD cases with novel PSEN1 mutations

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MCI were classified as AD-like rather than control-like using this classifier. There was strong evidence for mitochondrial dysfunction in MCI and AD blood. Expression inmany complex I-V genes, mitochondrial ribosome subunits and other genes associated with oxidative phosphorylation were decreased. These mirror changes observed in AD brain. Increased expression of genes encoding adhesionmolecules and other immune-related genes was also found along with an small elevation in monocyte number in AD and basophil number in MCI and AD.Conclusions:We report an accurate blood expression biomarker of AD which identifies people displaying structural changes in their brain consistent with an AD diagnosis. The majority of MCI were classified as AD rather than control, using the AD biomarker. This suggests the classifier detects either early prodromal AD or related disease with common aetiology. This study identifies targets such as mitochondrial activity which could be monitored in blood in future therapeutic interventions.

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