Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation.


Journal Article

We identified a case of Alzheimer's disease with a deletion of the lysine residue at codon 280 (DeltaK280) in exon 10-encoded microtubule-binding repeat domain of the tau gene (MAPT). This mutation was originally identified in a sporadic case of frontotemporal dementia (FTD) with a family history of Parkinson's disease. In the original report, the authors were careful in their assessment of the pathogenicity and suggested one could not be sure whether the mutation was pathogenic or not. The mutation has always presented a conundrum because it is the only known mutation, of assumed pathogenicity, which increases the proportion of 3-repeat tau mRNA in in vitro assays. Here we present the clinical and pathological features of a new case with this mutation and discuss whether the mutation is indeed pathogenic.

Full Text

Cited Authors

  • Momeni, P; Pittman, A; Lashley, T; Vandrovcova, J; Malzer, E; Luk, C; Hulette, C; Lees, A; Revesz, T; Hardy, J; de Silva, R

Published Date

  • March 2009

Published In

Volume / Issue

  • 30 / 3

Start / End Page

  • 388 - 393

PubMed ID

  • 17723255

Pubmed Central ID

  • 17723255

Electronic International Standard Serial Number (EISSN)

  • 1558-1497

Digital Object Identifier (DOI)

  • 10.1016/j.neurobiolaging.2007.07.013


  • eng

Conference Location

  • United States