APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease
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Cited by (124)
Experimental modelling of Alzheimer's disease for therapeutic screening
2022, European Journal of Medicinal Chemistry ReportsA novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease
2014, Neuroscience LettersCitation Excerpt :ApoE is a susceptibility gene that is frequently found in EO-AD and LO-AD cases [34]. However, in PSEN1 mutation carriers, the ApoE ε4 genotype is typically not the determining factor in EO-AD [35], and studies suggest that the ApoE ε4 allele rather has its maximum impact in patients between the ages of 60 and 70 years [36]. As the patient reported a positive family history of early-onset dementia, we were able to detect the same Ala275Val mutation in the DNA of the patient's father demonstrating the cosegregation with a similar disease.
Genetics of Alzheimer Disease
2013, Emery and Rimoin's Principles and Practice of Medical Geneticsγ-secretases: from cell biology to therapeutic strategies
2010, The Lancet NeurologyCitation Excerpt :The reason why PSEN2 mutations manifest at an older age than do PSEN1 mutations is unclear, and further work on the differential tissue distribution or the reported differences79,80 in molecular properties of PSEN2 or γ-secretase might yield an explanation. In contrast to sporadic Alzheimer's disease, no major modifiers of age at onset have been identified in patients with early-onset familial disease.81,82 The only modifier suggested in families with early-onset disease is the HLA-2 genotype, but the precise mechanism is unclear.83,84
Linking Aβ and Tau in Late-Onset Alzheimer's Disease: A Dual Pathway Hypothesis
2008, NeuronCitation Excerpt :As a corollary in living subjects, cerebral spinal fluid (CSF) studies have also found an association between APOE4 genotype and both Aβ (Galasko et al., 1998; Sunderland et al., 2004) and phospho-tau levels (Glodzik-Sobanska et al., 2007; Golombowski et al., 1997). Although FTD caused by tau mutations does not appear to be robustly influenced by APOE4 genotype (Houlden et al., 1999; Pickering-Brown et al., 2000), it is plausible that the mutations override the impact of APOE4, similar to the lack of APOE4's effect in AD patients with presenilin mutations (Van Broeckhoven et al., 1994). In support of this, in one study relatively young nondemented individuals (mean = 44), unlikely to have plaques or Aβ pathology, were found to have more tangles in the entorhinal area if they were APOE4 positive (Ghebremedhin et al., 1998).