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Title: Mutation screening of the tau gene in patients with early-onset Alzheimer's disease
Authors: Roks, G
Dermaut, Bart
Heutink, P
Julliams, A
Backhovens, H
Van De Broeck, M
Serneels, S
Hofman, A
Van Broeckhoven, C
van Duijn, CM
Cruts, M # ×
Issue Date: Dec-1999
Publisher: Elsevier/North-Holland
Series Title: Neuroscience Letters vol:277 issue:2 pages:137-139
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. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.
URI: 
ISSN: 0304-3940
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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