Mutation screening of the tau gene in patients with early-onset Alzheimer's disease

Hyperphosphorylated microtubule associated protein tau, present in neurofib rillary tangles, is a prominent pathological feature of Alzheimer's disease (AD). The gene encoding tau (MAPT) was recently found mutated in frontotem poral dementia (FTD) and other tauopathies. We studied MAPT as a candidate gene in the etiology of AD. The study population consisted of 101 early-ons et AD patients and 117 controls. Mutation analysis did not detect causal mu tations in exons 9 to 13 encoding the microtubule-binding domains involved in FTD, however, two novel polymorphisms were detected in exon 9. Using the Ala169 polymorphism in exon 9 and a previously reported (CA)(n)-repeat pol ymorphism in intron 9, an association study was performed. No association w ith early-onset AD was detected. Together, our data indicate that MAPT does not play a role in early-onset AD. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.