Assays for pre-mortem cerebrospinal fluid (CSF) measurements of total-and phosphorylated forms of tau (t-tau, p-tau) and Aβ1-42 show direct associations with post-mortem tau NFT and Aβ plaque pathology in AD [95] where low Aβ1-42 and high t-tau and p-tau represent a signature of AD pathology. The gene discussed is MAPT; the disease is Alzheimer disease.