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

• Published in: Neuroscience letters Vol. 277; no. 2; pp. 137 - 139
• Main Authors: Roks, Gerwin, Dermaut, Bart, Heutink, Peter, Julliams, Ann, Backhovens, Hubert, Van de Broeck, Marleen, Serneels, Sally, Hofman, Albert, Van Broeckhoven, Christine, van Duijn, Cornelia M, Cruts, Marc
• Format: Journal Article
• Language: English
• Published: Shannon Elsevier Ireland Ltd 24.12.1999; Elsevier
• Subjects: Aged; Alleles; Alzheimer Disease - genetics; Alzheimer’s disease; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Mutational Analysis; Early-onset; Exons - genetics; Genetic epidemiology; Genotype; Humans; Introns - genetics; Medical sciences; Middle Aged; Neurology; Polymorphism, Genetic - genetics; Tau gene; tau Proteins - genetics; Tau gene; Alzheimer’s disease; Genetic epidemiology; Early-onset; Human; Nervous system diseases; Gene; Tau protein; Alzheimer disease; Central nervous system disease; Genetics; Early; Degenerative disease; Mutation; Epidemiology; Cerebral disorder
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/S0304-3940(99)00861-7

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.