Search

The presence of apolipoprotein E (ApoE) ℇ4 allele is a risk factor for Alzheimer's disease (AD) and associated with a more pronounced reduction of amyloid-β 1-42 (Aβ1-42) in the cerebrospinal fluid (CSF). Because a decrease of Aβ1-42 and increase of tau protein levels, both important biomarkers for AD, are also reported in Creutzfeldt-Jakob disease (CJD), we analyzed if a similar relationship can be observed in this rapid progressive dementia. Our study included 309 patients with sporadic CJD (147 neuropathologically confirmed and 162 probable cases). We analyzed the role of ApoE ℇ4 in sporadic CJD (sCJD), in particular the influence on the CSF-markers 14-3-3 protein, tau protein, neuron-specific enolase, S100 protein, Aβ1-42, and Aβ1-40. No differences in the ApoE ℇ4 allele frequency and ApoE genotype distribution between sCJD and published healthy controls were observed. The ApoE ℇ4 allele had no effect on disease duration or age at onset. We detected a dose-dependent ApoE ℇ4 effect on the decrease of Aβ1-42 in sCJD. ApoE ℇ4 carriers with one ApoE ℇ4 allele showed significantly reduced Aβ1-42 values (p < 0.0001) in comparison with non-carriers. ApoE ℇ4 allele is not a risk factor for sCJD but modifies the Aβ1-42 levels in CSF in a similar manner as in AD. Based on our results in sCJD patients, we hypothesize that the ApoE ℇ4 effect on Aβ1-42 values might not be disease-specific. [ABSTRACT FROM AUTHOR]