title: Mutation screening of the tau gene in patients with early-onset Alzheimer's disease.
abstract: 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.
authors.affiliation: Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.
authors.forename: G
authors.initials: G
authors.lastname: Roks
authors.forename: B
authors.initials: B
authors.lastname: Dermaut
authors.forename: P
authors.initials: P
authors.lastname: Heutink
authors.forename: A
authors.initials: A
authors.lastname: Julliams
authors.forename: H
authors.initials: H
authors.lastname: Backhovens
authors.forename: M
authors.initials: M
authors.lastname: Van de Broeck
authors.forename: S
authors.initials: S
authors.lastname: Serneels
authors.forename: A
authors.initials: A
authors.lastname: Hofman
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: C M
authors.initials: CM
authors.lastname: van Duijn
authors.forename: M
authors.initials: M
authors.lastname: Cruts
mesh_terms: D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins