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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.

Original publication

DOI

10.1016/s0304-3940(99)00861-7

Type

Journal article

Journal

Neuroscience letters

Publication Date

12/1999

Volume

277

Pages

137 - 139

Addresses

Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.

Keywords

Humans, Alzheimer Disease, tau Proteins, DNA Mutational Analysis, Genotype, Polymorphism, Genetic, Alleles, Introns, Exons, Aged, Middle Aged