Hyperphosphorylated microtubule associated protein tau, present in neurofibrillary tangles, is a prominent pathological feature of Alzheimer's disease (AD). The gene encoding tau (MAPT) was recently found mutated in frontotemporal dementia (FTD) and other tauopathies. We studied MAPT as a candidate gene in the etiology of AD. The study population consisted of 101 early-onset AD patients and 117 controls. Mutation analysis did not detect causal mutations 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 polymorphism in intron 9, an association study was performed. No association with early-onset AD was detected. Together, our data indicate that MAPT does not play a role in early-onset AD.

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doi.org/10.1016/S0304-3940(99)00861-7, hdl.handle.net/1765/5838
Neuroscience Letters
Erasmus MC: University Medical Center Rotterdam

Roks, G., Dermaut, B., Heutink, P., Julliams, A., Backhovens, H., van den Broeck, M., … Cruts, M. (1999). Mutation screening of the tau gene in patients with early-onset Alzheimer's disease. Neuroscience Letters, 277(2), 137–139. doi:10.1016/S0304-3940(99)00861-7