Dominique Campion

TL;DR: Meta-analyses of all data provided compelling evidence that ABCA7 and the MS4A gene cluster are new Alzheimer's disease susceptibility loci and independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance.

TL;DR: Three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease are observed, providing additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's Disease.

TL;DR: Analysis of additional members of a pedigree known to segregate a Met239Val mutation in PS-2 revealed that the age of onset of symptoms is highly variable (range 45-88 years), and this variability is not attributable to differences in ApoE genotypes.

TL;DR: Exome sequencing in autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes found that in five patients, the SORL1 gene harbored unknown nonsense or missense mutations, suggesting further genetic heterogeneity, involving another gene of the same pathway is present in ADEOAD.